The AGCU X Plus STR system is a newly developed multiplex PCR kit that detects 32 X-chromosomal STR loci simultaneously.These are DXS6807,DXS9895,linkage group 1(DXS10148,DXS10135,DXS8378),DXS9902,DXS6795,DXS6810,DXS1...The AGCU X Plus STR system is a newly developed multiplex PCR kit that detects 32 X-chromosomal STR loci simultaneously.These are DXS6807,DXS9895,linkage group 1(DXS10148,DXS10135,DXS8378),DXS9902,DXS6795,DXS6810,DXS10159,DXS10162,DXS10164,DXS7132,linkage group 2(DXS10079,DXS10074,DXS10075),DXS981,DXS6800,DXS6803,DXS6809,DXS6789,DXS7424,DXS101,DXS7133,GATA172D05,GATA165B12,linkage group 3(DXS10103,HPRTB,DXS10101),GATA31E08 and linkage group 4(DXS8377,DXS10134,DXS7423).A major advantage of this kit is that it takes into account linkage between loci,in addition to detecting more X-STR loci.In order to evaluate the forensic application of 32 X-STR fl uorescence amplifi cation system,PCR settings,sensitivity,species specifi city,stability,DNA mixtures,concordance,stutter,sizing precision,and population genetics investigation were evaluated according to the Scientific Working Group on DNA Analysis Methods(SWGDAM)developmental validation guidelines.The study showed that the genotyping results of each locus were signifi cantly accurate when the DNA template was at least 62.5 pg.Complete profi les were obtained for the 1∶1 and 1∶3 combinations.A total of 209 unrelated individuals from Southern Chinese Han community,consisting of 84 females and 125 males,were selected for population studies,and 285 allele profi les were detected from 32 X-STR loci.The polymorphism information content(PIC)ranged from 0.2721 in DXS6800,to 0.9105 in DXS10135,with an average of 0.6798.DXS10135(PIC=0.9105)was the most polymorphic locus,with discrimination power(DP)of 0.9164 and 0.9871 for the male and female.The cumulative PD_(F),PD_(M),MEC_(trio) and MEC_(duo) valu es were all greater than 0.999999999.There were 78 different DXS10103-HPRTB-DXS10101 haplotypes among the 125 males,and the haplotype diversity was 0.9810.There was no signifi cant difference in the cumulative PD_(F),PD_(M),MEC_(trio) and MEC_(duo) values whether considering linkage or not.In summary,the new X-STR multiplex typing system is effective and reliable,which can be useful in human genetic analysis and kinship testing as a potent complement to autosomal STR typing.展开更多
The MiSeq FGx^(TM) Forensic Genomics System types 231 genetic markers in one multiplex polymerase chain reaction (PCR) assay.The markers include core forensic short tandem repeats (STRs) as well as identity,ancestry a...The MiSeq FGx^(TM) Forensic Genomics System types 231 genetic markers in one multiplex polymerase chain reaction (PCR) assay.The markers include core forensic short tandem repeats (STRs) as well as identity,ancestry and phenotype informative short nucleotide polymorphisms (SNPs).In this work,the MiSeq FGx^(TM) Forensic Genomics System was evaluated by analysing reproducibility,sensitivity,mixture identification and forensic phenotyping capabilities of the assay.Furthermore,the genotype calling of the ForenSeq^(TM) Universal Analysis Software was verified by analysing fastq.gz files from the MiSeq FGx^(TM) platform using the softwares STRinNGS and GATK.Overall,the performance of the MiSeq FGx^(TM) Forensic Genomics System was high.However,locus and allele drop-outs were relatively frequent at six loci (two STRs and four human identification SNPs) due to low read depth or skewed heterozygote balances,and the stutter ratios were larger than those observed with conventional STR genotyping methods.The risk of locus and allele drop-outs increased dramatically when the amount of DNA in the first PCR was lower than 250 pg.Two-person 50∶1 mixtures were identified as mixtures,whereas 100∶1 and 1000∶1 mixtures were not.Y-chromosomal short tandem repeats (Y-STRs) alleles were detected in the 100∶1 and 1000∶1 female/male mixtures.The ForenSeq^(TM) Universal Analysis Software provided the data analyst with useful alerts that simplified the analysis of the large number of markers.Many of the alerts were due to user-defined,locus-specific criteria.The results shown here indicated that the default settings should be altered for some loci.Also,recommended changes to the assay and software are discussed.展开更多
The probative value of animal forensic genetic evidence relies on laboratory accuracy and reliability.Inter-laboratory comparisons allow laboratories to evaluate their performance on specific tests and analyses and to...The probative value of animal forensic genetic evidence relies on laboratory accuracy and reliability.Inter-laboratory comparisons allow laboratories to evaluate their performance on specific tests and analyses and to continue to monitor their output.The International Society for Animal Genetics(ISAG)administered animal forensic comparison tests(AFCTs)in 2016 and 2018 to assess the limitations and capabilities of laboratories offering forensic identification,parentage and species determination services.The AFCTs revealed that analyses of low DNA template concentrations(≤300 pg/μL)constitute a significant challenge that has prevented many laboratories from reporting correct identification and parentage results.Moreover,a lack of familiarity with species testing protocols,interpretation guidelines and representative databases prevented over a quarter of the participating laboratories from submitting correct species determination results.Several laboratories showed improvement in their genotyping accuracy over time.However,the use of forensically validated standards,such as a standard forensic short tandem repeat(STR)kit,preferably with an allelic ladder,and stricter guidelines for STR typing,may have prevented some common issues from occurring,such as genotyping inaccuracies,missing data,elevated stutter products and loading errors.The AFCTs underscore the importance of conducting routine forensic comparison tests to allow laboratories to compare results from each other.Laboratories should keep improving their scientific and technical capabilities and continuously evaluate their personnel’s proficiency in critical techniques such as low copy number(LCN)analysis and species testing.Although this is the first time that the ISAG has conducted comparison tests for forensic testing,findings from these AFCTs may serve as the foundation for continuous improvements of the overall quality of animal forensic genetic testing.展开更多
Objective Population genetic analysis based on genetic markers harbors valuable forensic applications.In this regard,it is informative and imperative to explore Han groups as they are the largest population of China.I...Objective Population genetic analysis based on genetic markers harbors valuable forensic applications.In this regard,it is informative and imperative to explore Han groups as they are the largest population of China.In particular,there is a largely underrepresented amount of information from recent decades regarding the southeast costal Han Chinese.Therefore,the aim of this study is to investigate the available genetic characteristics of the Han population living in the Jinjiang,Fujian Province,Southeastern China.Methods We sampled 858 saliva samples and used the commercially available Microreader^(TM) Y Prime Plus ID System to identify population data of Y-short tandem repeat(STR)loci of this region.Results A total of 822 different haplotypes were observed.The overall haplotype diversity,discriminatory power and haplotype match probability were 0.9999,0.9999 and 0.0012,respectively.Conclusion Our results showed that the Jinjiang Han population was closely genetically related to Han groups of China.Overall,we identified a set of 37 Y-STRs that are highly polymorphic,and that can provide meaningful information in forensic practice and human genetic research.展开更多
Deoxyribonucleic acid(DNA)genetic markers and ribonucleic acid(RNA)molecular markers have been widely used in forensic practices including individual identification,parentage testing,body fluid identification,determin...Deoxyribonucleic acid(DNA)genetic markers and ribonucleic acid(RNA)molecular markers have been widely used in forensic practices including individual identification,parentage testing,body fluid identification,determination of the age of stains,and molecular pathological diagnosis.Variant information of biological evidence and their interrelation could be revealed by the integrated detection of DNA/RNA markers.The integrated detection workflow aims to simplify working procedures,reduce time consuming and save valuable samples collected from crime scenes.Next-generation sequencing(NGS)may be an effective method for integrated DNA/RNA detection.In this review,DNA/RNA co-extraction strategies,simultaneous detection methods based on capillary electrophoresis were summarized.Research on NGS-based integrated detection methods of DNA and RNA markers was reviewed to provide a reference for forensic medicine researches and applications.展开更多
Anthropologists are often the custodians of long-term unidentified human remains though their positions as curators of university or museum skeletal collections.Various factors decrease the solvability of these legacy...Anthropologists are often the custodians of long-term unidentified human remains though their positions as curators of university or museum skeletal collections.Various factors decrease the solvability of these legacy cases including the passage of time,the loss of provenience for specific cases,and lack of documentation or case records.While anthropologists can contribute important information toward identification,it is often necessary to explore novel and cross-disciplinary strategies to resolve difficult cold cases.In long cold cases,the postmortem interval,in particular,may be difficult to estimate leading to further challenges in achieving identification.Modern advances in radiocarbon bomb pulse dating,isotope analysis,and actualistic studies have contributed to positive identification of unidentified human remains in some legacy cases,but may not be available to all forensic practitioners and law enforcement from resource-poor agencies.Pooling resources,as well as collaborating with professionals outside of forensic anthropology,is a useful strategy to pursue when anthropological methods are exhausted.The case study presented here demonstrates a collaborative approach between forensic anthropologists,forensic genetic genealogists,and law enforcement in a century-old homicide.The dismembered and mummified parts of a male body were recovered in a remote cave in 1979 and again in 1991.Despite forensic anthropologists creating and updating the biological profile over the decades from recovery to present,no identification was made until the application of forensic genetic genealogy(FGG)to the case in 2019.New interpretations of bone microstructure and trauma analysis are presented for the case,alongside the historical documentation and“proof of life”evidence used by the genealogy team.A review of the FGG methods underscores the challenges in this case(e.g.significant endogamy,multiple aliases used by the victim)and the steps taken toward resolution.Ultimately,a combined anthropology and genealogy approach resulted in a confirmed identity for a man who was murdered in 1916.展开更多
Species identification of biological samples is widely used in such fields as forensic science and food industry. A variety of accurate and reliable methods have been developed in recent years. The current review show...Species identification of biological samples is widely used in such fields as forensic science and food industry. A variety of accurate and reliable methods have been developed in recent years. The current review shows common target genes and screening criteria suitable for species identification, and described various DNA-based molecular biology methods about species identification. Additionally, it discusses the future development of species identification combined with real-time PCR and sequencing technologies.展开更多
A six-color fluorescent multiplex amplification system for 31 Y-chromosomal short tandem repeats(Y-STRs)(DYS19,DYS390,DYS391,DYF399S1,DYF404S1,DYS439,DYS444,DYS449,DYS452,DYS456,DYS458,DYS460,DYS481,DYS508,DYS513,DYS5...A six-color fluorescent multiplex amplification system for 31 Y-chromosomal short tandem repeats(Y-STRs)(DYS19,DYS390,DYS391,DYF399S1,DYF404S1,DYS439,DYS444,DYS449,DYS452,DYS456,DYS458,DYS460,DYS481,DYS508,DYS513,DYS516,DYS518,DYS543,DYS547,DYS549,DYS552,DYS557,DYS570,DYS576,DYS612,DYS622,DYS626,DYS627,DYS630,DYS635,and Y-GATA-A10)was developed for investigating the mutation rates of 31 highly mutated Y-STR genes in the Han population of northern China.The mutation rates of the 31 highly mutated Y-STRs were calculated using the father-son pair study method after typing 526 Northern Han father-son pairs with this system.Statistically,148 Y-STR mutations were found,with mutation rates ranging from 0(95%confidence interval[CI]0 to 9.0×10^(−3),DYS622)to 7.0×10^(−2)(95%CI 5.1×10^(−2)to 9.7×10^(−2),DYF399S1).Out of these,126 father-son pairs were successfully identified,with a distinction rate of 24.0%(95%CI 20.4%-27.9%).The ability of the 31 highly mutated Y-STRs to distinguish closely related males from the same paternal lineage in the Northern Han population is extremely valuable for criminal investigations and other purposes.展开更多
The generation of a DNA profile from skeletal remains is an important part of the identifica-tion process in both mass disaster and unidentified person cases. Since bones and teeth are often the only biological materi...The generation of a DNA profile from skeletal remains is an important part of the identifica-tion process in both mass disaster and unidentified person cases. Since bones and teeth are often the only biological materials remaining after exposure to environmental conditions, intense heat, certain traumatic events and in cases where a significant amount of time has passed since the death of the individual, the ability to purify large quantities of informative DNA from these hard tissues would be beneficial. Since sampling the hard tissues for gen-etic analysis is a destructive process, it is important to understand those environmental and intrinsic factors that contribute to DNA preservation. This will serve as a brief introduction to these topics, since skeletal sampling strategies and molecular taphonomy have been dis-cussed in depth elsewhere. Additionally advances in skeletal DNA extraction and analysis will be discussed. Currently there is great variation in the DNA isolation methods used by laboratories to purify DNA from the hard tissues;however, a standardized set of short tan-dem repeat (STR) loci is analyzed by many US laboratories to allow for comparisons across samples and jurisdictions. Recent advances have allowed for the generation of DNA profiles from smaller quantities of template DNA and have expanded the number of loci analyzed for greater discriminatory power and predictions regarding the geographic ancestry and phenotype of the individual. Finally, utilizing databases and expanding the number of com-parison samples will be discussed in light of their role in the identification process.展开更多
A forensic validation study of the Early Access HuaxiaTM Platinum Polymerase Chain Reaction (PCR) kit was completed to document the performance capabilities and limitations.The genotyping of DNA samples was consistent...A forensic validation study of the Early Access HuaxiaTM Platinum Polymerase Chain Reaction (PCR) kit was completed to document the performance capabilities and limitations.The genotyping of DNA samples was consistent across a large range of template DNA concentrations,with complete profiles obtained at 0.125 ng;however,no more than 2 mm× 1.2 mm punches of samples would be recommended for direct amplification.The size precision and accuracy test revealed the genotyping ability;while consistent results were obtained when comparing the kit with other commercially available systems.In addition,the whole PCR amplification can finish within approximately 45 min,making the system suitable for fastdetection.However,only partial profiles may be obtained with challenging samples,including DNA stored on Foam-Tipped Applicators (FTA) cards or some case samples.For the forensic application in ethnic groups,a total of 282 and 229 alleles were obtained in Han and Mongolia,respectively.Since the 23 short tandem repeats were independent from each other,the cumulative power of exclusion in duos was 0.999999157188 and the cumulative power of exclusion in trios was 0.999999999859 in the Han group while the cumulative power of exclusion in duos (CPEduo) was 0.999 998 848 26 and cumulative power of exclusion in trios (CPEtrio) was 0.999 999 999 79 in the Mongolia group.And good internal consistency was found between the two investigated groups and the Sichuan Han,Hui,Tibetan and Uygur according to available reference data.展开更多
With the characteristics of low mutation rate,length variation and short amplicon size,insertion/deletion polymorphisms(InDels)have the advantages of both short tandem repeats(STRs)and single nucleotide polymorphisms(...With the characteristics of low mutation rate,length variation and short amplicon size,insertion/deletion polymorphisms(InDels)have the advantages of both short tandem repeats(STRs)and single nucleotide polymorphisms(SNPs).Herein,people of two ethnicities from Hainan Island were genotyped for the first time using the Investigator DIPplex kit.We investigated the forensic parameters of the 30 InDels and the phylogenetic relationships among different populations.The accumulated powers of discrimination and powers of exclusion were 0.9999999999646 and 0.9897 in the Hainan Han population and 0.9999999999292 and 0.9861 in the Hainan Li population,respectively.Additionally,population comparisons among geographically,ethnically and linguistically diverse populations via cluster heatmap,multidimensional scaling,principal component analysis,phylogenetic tree and STRUCTURE analyses demonstrated that the Hainan Han population had genetic similarities to the other Han,She and Tujia populations,while the Hainan Li population had close genetic relationships to the Zhuang and Miao groups;both populations had a high degree of genetic differentiation from most Turkic-speaking populations.Aforementioned results suggested that the 30 autosomal InDels are highly polymorphic and informative,which are suitable for human identification and population genetics.展开更多
Thanatomicrobiome,or the postmortem microbiome,has been recognized as a useful microbial marker of the time and location of host death.In this mini-review,we compare the experimental methods commonly applied to thanat...Thanatomicrobiome,or the postmortem microbiome,has been recognized as a useful microbial marker of the time and location of host death.In this mini-review,we compare the experimental methods commonly applied to thanatomicrobiome studies to the state-of-the-art methodologies in the microbiome field.Then,we review present findings in thanatomicrobiome studies,focusing on the diversity of the thanatomicrobiome composition and prediction models that have been proposed.Finally,we discuss potential improvements and future directions of the field.展开更多
Many studies have examined the genetic contribution to suicide.However,data on suicide in the Italian population are scarce.We therefore aimed to address this gap by investigating a cohort of 111 Italians for whom a v...Many studies have examined the genetic contribution to suicide.However,data on suicide in the Italian population are scarce.We therefore aimed to address this gap by investigating a cohort of 111 Italians for whom a verdict of suicide had been declared in court in Florence,Italy between 2007 and 2017.This cohort included 86 men and 25 women.DNA samples were obtained from tissues or blood,and 22 genes from multiple neurobiological pathways previously shown to be associated with the pathogenesis of suicide were analysed.Next-generation sequencing was used to compare these gene sequences with those from a large,normal population.In this study,we identified 19 gene variants that were present at significantly lower frequencies in our Italian cohort than in the general population.In addition,four missense mutations were identified in four different genes:Monoamine Oxidase A(MAOA),5-Hydroxytryptamine Receptor 2 A(HTR2A),Sodium Voltage-Gated Channel Alpha Subunit 8(SCN8A),and Nitric Oxide Synthase 3(NOS3).Our study identified several potential genetic links with suicide in a cohort of Italians and supports a relationship between specific genetic variants and suicidal behaviour in this population.展开更多
In this research,genotyping data of 43 InDel loci in 311 Han individuals in Ankang City,Shaanxi Province,China were detected using a self-developed five-dye multiplex amplification panel.The allelic frequencies and fo...In this research,genotyping data of 43 InDel loci in 311 Han individuals in Ankang City,Shaanxi Province,China were detected using a self-developed five-dye multiplex amplification panel.The allelic frequencies and forensic parameters of all InDel loci were calculated.The combined power of discrimination and probability of exclusion values were 0.99999999999999999882739 and 0.999887424,respectively,which demonstrated that this 43-InDel panel was powerful for individual identifications in Ankang Han population.Moreover,genetic distances,pairwise F_(ST)values,principal component analyses,phylogenetic trees and STRUCTURE analyses were performed to investigate the genetic affinities between Ankang Han and reference groups.Population genetic investigations indicated that Ankang Han population had a close genetic relationship with Southern Han population compared with other reference groups.展开更多
X chromosomal short tandem repeats(X-STRs)have the characteristics of both autosomal and uniparental genetic markers and have been shown to be particularly useful in forensic casework.However,relevant research or repo...X chromosomal short tandem repeats(X-STRs)have the characteristics of both autosomal and uniparental genetic markers and have been shown to be particularly useful in forensic casework.However,relevant research or reports have not focused on X-STRs in the Hani population.To investigate the genetic variation and forensic efficiency of 16 X-STR loci in the Hani ethnic minority,we calculated the allele frequencies and forensic parameters of 451(116 males and 335 females)unrelated healthy Hani individuals from Yunnan Province,Southwest China.All these loci are highly polymorphic in Hani individuals in Yunnan Province except DXS6800.The combined power of discrimination in males(PDM)and power of discrimination in females(PDF)were found to be 0.999999998433993 and 0.999999999999998,respectively.Furthermore,a population genetic structure investigation between the Yunnan Hani population and another 18 populations was performed using a principal component analysis,multidimensional scaling plot and neighbouring-joining phylogenetic tree and the findings illustrated that neighbouring populations and different nationalities in the same area appeared to have a closer evolutionary relationship.This study provides the first batch of X chromosome genetic polymorphism data of the Hani population in Yunnan Province,Southwest China and enriches the reference database of the Chinese minority population.展开更多
Y chromosomal genetic markers in the non-recombining region are commonly used for human evolution research,familial searching,and forensic male differentiation since they strictly follow paternal inheritance.Y chromos...Y chromosomal genetic markers in the non-recombining region are commonly used for human evolution research,familial searching,and forensic male differentiation since they strictly follow paternal inheritance.Y chromosomal short tandem repeats(Y-STRs)possess extraordinarily advantages in forensic applications because of their high polymorphisms and special genetic pattern.Here,we assessed the genetic diversities of 41 Y-STRs and three Y chromosomal insertion/deletion(Y-InDels)loci in the Chinese Inner Mongolia Han population;besides,genetic differentiation analyses among the studied Han population and other previously reported populations were conducted based on 27 same Y-STRs.Totally,425 alleles were observed in 324 Inner Mongolia Han individuals for these Y-markers.Gene diversities of these Y-markers distributed from 0.0306 to 0.9634.The haplotype diversity and discriminatory capacity of these Y-markers in the Inner Mongolia Han population were 0.9999 and 0.98457,respectively.Haplotype resolution comparisons of different Y-marker groups in the studied Han population revealed that higher haplotype resolution could be achieved for these 44 Y-markers.Population genetic analyses of the Inner Mongolia Han population and other reference populations demonstrated that the studied Han population had relatively closer genetic affinities with Northern Han Chinese populations than Southern Han and other minority groups.To sum up,these 44 Y-markers can be utilized as a valuable tool for male differentiation in the Inner Mongolia Han population.展开更多
Short tandem repeats on the Y chromosome(Y-STRs),characterized by paternal inheritance,are valuable in forensic practice.Notably,the potential application of Y-STRs in pedigrees should be drawn upon,especially in Chin...Short tandem repeats on the Y chromosome(Y-STRs),characterized by paternal inheritance,are valuable in forensic practice.Notably,the potential application of Y-STRs in pedigrees should be drawn upon,especially in China’s surname-concentrated natural villages.The study focused on 50 Y-STRs,including 13 rapidly mutating(RM)Y-STRs that largely constitute the current Y-STR commercial kits,and determined the differences in these Y-STRs between branches in a large pedigree and the discriminatory power of these haplotypes in different units for male relatives.As indicated in the results,14 inconsistencies were observed at 9 Y-STRs between 10 father-son pairs.In addition,these 50 Y-STR haplotypes discriminated 10 out of 47 father-son pairs,106 of 148 cousin pairs,70 of 119 uncle-nephew pairs,17 of 39 brother pairs,and 14 out of 33 grandfather-grandson pairs in a large pedigree.The RM Y-STR set is able to differentiate close male relatives in a large pedigree.展开更多
As a result of the expansion of old Tibet on the Qinghai-Tibet Plateau,Tibetans diverged into three main branches,Ü-Tsang,Amdo,and Kham Tibetan.Ü-Tsang Tibetans are geographically distributed across the wide...As a result of the expansion of old Tibet on the Qinghai-Tibet Plateau,Tibetans diverged into three main branches,Ü-Tsang,Amdo,and Kham Tibetan.Ü-Tsang Tibetans are geographically distributed across the wide central and western portions of the Qinghai-Tibet Plateau while Lhasa is the central gathering place for Tibetan culture.The AGCU Y30,a 6-dye fluorescence kit including 30 slowly and moderately mutated Y-STR loci,has been validated for its stability and sensitivity in different biomaterials and diverse Chinese populations(Han and other minorities),and widely used in the practical work of forensic science.However,the 30 Y-STR profiling of Tibetan,especially forÜ-Tsang Tibetan,were insufficient.We utilized the AGCU Y30 to genotype 577Ü-Tsang Tibetan unrelated males from Lhasa in the Tibet Autonomous Region of China to fill up the full and accurate Y-STR profiles.A total of 552 haplotypes were observed,536(97.10%)of which were unique.One hundred and ninety-four alleles were observed at 26 single copy loci and the allelic frequencies ranged from 0.0017 to 0.8180.For the two multi-copy loci DYS385a/b and DYS527a/b,64 and 36 allelic combinations were observed,respectively.The gene diversity(GD)values ranged from 0.3079 at DYS391 to 0.9142 at DYS385a/b and the overall haplotype diversity(HD)was 0.9998,and its discrimination capacity(DC)was 0.9567.The population genetic analyses demonstrated that LhasaÜ-Tsang Tibetan had close relationships with other Tibetan populations from Tibet and Qinghai,especially withÜ-Tsang Tibetan.From the perspective of Y haplogroups,the admixture of the southward Qiang people with dominant haplogroup O-M122 and the northward migrations of the initial settlers of East Asia with haplogroup D-M175 hinted the Sino-Tibetan homologous,thus,we could not ignore the gene flows with other Sino-Tibetan populations,especially for Han Chinese,to characterize the forensic genetic landscape of Tibetan.展开更多
Short tandem repeats(STRs)play an essential role in forensic genetics due to their high degree of polymorphisms,wide distributions and easy detection method.In this study,allelic frequencies and forensic statistical p...Short tandem repeats(STRs)play an essential role in forensic genetics due to their high degree of polymorphisms,wide distributions and easy detection method.In this study,allelic frequencies and forensic statistical parameters of the 19 autosomal STR loci in a Kazak ethnic group were calculated,and its genetic relationships with reference populations were assessed in order to understand population structure better and enrich population genetic data for forensic practice in Chinese Kazak ethnic group.There were 226 identified alleles with the corresponding allelic frequencies ranging from 0.0008 to 0.5295 in the 628 unrelated healthy Kazak individuals in Xinjiang Uygur Autonomous Region.All autosomal STRs were conformed to the Hardy-Weinberg equilibrium after Bonferroni’s correction.The cumulative power of discrimination and the combined probability of exclusion of all the 19 autosomal STRs were 0.999999999999999999999997162 and 0.999999994484,respectively.Furthermore,the DA distances and Fixation index values of pairwise populations,principal component analysis,multidimensional scaling analysis,phylogenetic tree analysis and structure analysis were conducted to probe the genetic relationships between the Kazak group and other reference populations.The population genetic results showed that these 19 autosomal STR loci were characterised by high genetic diversities in the Kazak group.Furthermore,the studied Kazak group had close genetic relationships with the Uyghur group and the Uzbek group.The present results may facilitate understanding the genetic background of the Chinese Xinjiang Kazak group.展开更多
Insertion/deletion polymorphisms(InDels)have been treated as a prospective and helpful genetic marker in the fields of forensic human identification,anthropology and population genetics for the past few years.In this ...Insertion/deletion polymorphisms(InDels)have been treated as a prospective and helpful genetic marker in the fields of forensic human identification,anthropology and population genetics for the past few years.In this study,we developed a six-dye multiplex typing system consisting of 34 autosomal InDels and Amelogenin for forensic application.The contained InDels were specifically selected for Chinese population with the MAF≥0.25 in East Asia,which do not overlap with the markers of Investigator^(■)DIPplex kit.The typing system was named as GoldeneyeTM DNA ID System 35InDel Kit,and a series of developmental validation studies including repeatability/reproducibility,concordance,accuracy,sensitivity,stability,species specificity and population genetics were conducted on this kit.We confirmed that the 35InDel kit is precise,sensitive,species specific and robust for forensic practice.Moreover,the 35InDel kit is capable of typing DNA extracted from forensic routine case-type samples as well as degraded samples and mixture samples.All markers are proved to be highly polymorphic with an average observed heterozygosity(He)of 0.4582.The combined power of discrimination(CPD)is 0.999999999999978 and the combined power of exclusion in duos(CPE_(D))and trios(CPE_(T))are 0.978837 and 0.999573,respectively,which are higher than those of the Investigator^(■)DIPplex kit.Thus,the GoldeneyeTM DNA ID System 35InDel kit is suitable for forensic human identification and could serve as a supplementary typing system for paternity testing.展开更多
文摘The AGCU X Plus STR system is a newly developed multiplex PCR kit that detects 32 X-chromosomal STR loci simultaneously.These are DXS6807,DXS9895,linkage group 1(DXS10148,DXS10135,DXS8378),DXS9902,DXS6795,DXS6810,DXS10159,DXS10162,DXS10164,DXS7132,linkage group 2(DXS10079,DXS10074,DXS10075),DXS981,DXS6800,DXS6803,DXS6809,DXS6789,DXS7424,DXS101,DXS7133,GATA172D05,GATA165B12,linkage group 3(DXS10103,HPRTB,DXS10101),GATA31E08 and linkage group 4(DXS8377,DXS10134,DXS7423).A major advantage of this kit is that it takes into account linkage between loci,in addition to detecting more X-STR loci.In order to evaluate the forensic application of 32 X-STR fl uorescence amplifi cation system,PCR settings,sensitivity,species specifi city,stability,DNA mixtures,concordance,stutter,sizing precision,and population genetics investigation were evaluated according to the Scientific Working Group on DNA Analysis Methods(SWGDAM)developmental validation guidelines.The study showed that the genotyping results of each locus were signifi cantly accurate when the DNA template was at least 62.5 pg.Complete profi les were obtained for the 1∶1 and 1∶3 combinations.A total of 209 unrelated individuals from Southern Chinese Han community,consisting of 84 females and 125 males,were selected for population studies,and 285 allele profi les were detected from 32 X-STR loci.The polymorphism information content(PIC)ranged from 0.2721 in DXS6800,to 0.9105 in DXS10135,with an average of 0.6798.DXS10135(PIC=0.9105)was the most polymorphic locus,with discrimination power(DP)of 0.9164 and 0.9871 for the male and female.The cumulative PD_(F),PD_(M),MEC_(trio) and MEC_(duo) valu es were all greater than 0.999999999.There were 78 different DXS10103-HPRTB-DXS10101 haplotypes among the 125 males,and the haplotype diversity was 0.9810.There was no signifi cant difference in the cumulative PD_(F),PD_(M),MEC_(trio) and MEC_(duo) values whether considering linkage or not.In summary,the new X-STR multiplex typing system is effective and reliable,which can be useful in human genetic analysis and kinship testing as a potent complement to autosomal STR typing.
基金All procedures performed in studies involving human participants were in accordance with the ethical stand-ards of the Danish Ethical Committee(H-3-2012-023)and with the 1964 Helsinki declaration and its later amendments or comparable ethical standards.Samples were taken from the biobank of the Department of Forensic Medicine,University of Copenhagen(RIBVFapproved by the Danish Data Protection Agency,j.no.2002-54-1080).The Danish ethical committee waived the requirement for informed consent(H-3-2012-023).
文摘The MiSeq FGx^(TM) Forensic Genomics System types 231 genetic markers in one multiplex polymerase chain reaction (PCR) assay.The markers include core forensic short tandem repeats (STRs) as well as identity,ancestry and phenotype informative short nucleotide polymorphisms (SNPs).In this work,the MiSeq FGx^(TM) Forensic Genomics System was evaluated by analysing reproducibility,sensitivity,mixture identification and forensic phenotyping capabilities of the assay.Furthermore,the genotype calling of the ForenSeq^(TM) Universal Analysis Software was verified by analysing fastq.gz files from the MiSeq FGx^(TM) platform using the softwares STRinNGS and GATK.Overall,the performance of the MiSeq FGx^(TM) Forensic Genomics System was high.However,locus and allele drop-outs were relatively frequent at six loci (two STRs and four human identification SNPs) due to low read depth or skewed heterozygote balances,and the stutter ratios were larger than those observed with conventional STR genotyping methods.The risk of locus and allele drop-outs increased dramatically when the amount of DNA in the first PCR was lower than 250 pg.Two-person 50∶1 mixtures were identified as mixtures,whereas 100∶1 and 1000∶1 mixtures were not.Y-chromosomal short tandem repeats (Y-STRs) alleles were detected in the 100∶1 and 1000∶1 female/male mixtures.The ForenSeq^(TM) Universal Analysis Software provided the data analyst with useful alerts that simplified the analysis of the large number of markers.Many of the alerts were due to user-defined,locus-specific criteria.The results shown here indicated that the default settings should be altered for some loci.Also,recommended changes to the assay and software are discussed.
文摘The probative value of animal forensic genetic evidence relies on laboratory accuracy and reliability.Inter-laboratory comparisons allow laboratories to evaluate their performance on specific tests and analyses and to continue to monitor their output.The International Society for Animal Genetics(ISAG)administered animal forensic comparison tests(AFCTs)in 2016 and 2018 to assess the limitations and capabilities of laboratories offering forensic identification,parentage and species determination services.The AFCTs revealed that analyses of low DNA template concentrations(≤300 pg/μL)constitute a significant challenge that has prevented many laboratories from reporting correct identification and parentage results.Moreover,a lack of familiarity with species testing protocols,interpretation guidelines and representative databases prevented over a quarter of the participating laboratories from submitting correct species determination results.Several laboratories showed improvement in their genotyping accuracy over time.However,the use of forensically validated standards,such as a standard forensic short tandem repeat(STR)kit,preferably with an allelic ladder,and stricter guidelines for STR typing,may have prevented some common issues from occurring,such as genotyping inaccuracies,missing data,elevated stutter products and loading errors.The AFCTs underscore the importance of conducting routine forensic comparison tests to allow laboratories to compare results from each other.Laboratories should keep improving their scientific and technical capabilities and continuously evaluate their personnel’s proficiency in critical techniques such as low copy number(LCN)analysis and species testing.Although this is the first time that the ISAG has conducted comparison tests for forensic testing,findings from these AFCTs may serve as the foundation for continuous improvements of the overall quality of animal forensic genetic testing.
基金This study was supported by the Shaanxi Basic Research Program of Natural Science(No.2021JQ-392).
文摘Objective Population genetic analysis based on genetic markers harbors valuable forensic applications.In this regard,it is informative and imperative to explore Han groups as they are the largest population of China.In particular,there is a largely underrepresented amount of information from recent decades regarding the southeast costal Han Chinese.Therefore,the aim of this study is to investigate the available genetic characteristics of the Han population living in the Jinjiang,Fujian Province,Southeastern China.Methods We sampled 858 saliva samples and used the commercially available Microreader^(TM) Y Prime Plus ID System to identify population data of Y-short tandem repeat(STR)loci of this region.Results A total of 822 different haplotypes were observed.The overall haplotype diversity,discriminatory power and haplotype match probability were 0.9999,0.9999 and 0.0012,respectively.Conclusion Our results showed that the Jinjiang Han population was closely genetically related to Han groups of China.Overall,we identified a set of 37 Y-STRs that are highly polymorphic,and that can provide meaningful information in forensic practice and human genetic research.
基金supported by the Ministry of Public Security of China(2019GABJC15)the Institute of Forensic Science,Ministry of Public Security of China(2018JB007).
文摘Deoxyribonucleic acid(DNA)genetic markers and ribonucleic acid(RNA)molecular markers have been widely used in forensic practices including individual identification,parentage testing,body fluid identification,determination of the age of stains,and molecular pathological diagnosis.Variant information of biological evidence and their interrelation could be revealed by the integrated detection of DNA/RNA markers.The integrated detection workflow aims to simplify working procedures,reduce time consuming and save valuable samples collected from crime scenes.Next-generation sequencing(NGS)may be an effective method for integrated DNA/RNA detection.In this review,DNA/RNA co-extraction strategies,simultaneous detection methods based on capillary electrophoresis were summarized.Research on NGS-based integrated detection methods of DNA and RNA markers was reviewed to provide a reference for forensic medicine researches and applications.
基金Funding was provided for DNA extraction/sequencing and forensic genetic genealogy through donations to the DNA Doe Project.
文摘Anthropologists are often the custodians of long-term unidentified human remains though their positions as curators of university or museum skeletal collections.Various factors decrease the solvability of these legacy cases including the passage of time,the loss of provenience for specific cases,and lack of documentation or case records.While anthropologists can contribute important information toward identification,it is often necessary to explore novel and cross-disciplinary strategies to resolve difficult cold cases.In long cold cases,the postmortem interval,in particular,may be difficult to estimate leading to further challenges in achieving identification.Modern advances in radiocarbon bomb pulse dating,isotope analysis,and actualistic studies have contributed to positive identification of unidentified human remains in some legacy cases,but may not be available to all forensic practitioners and law enforcement from resource-poor agencies.Pooling resources,as well as collaborating with professionals outside of forensic anthropology,is a useful strategy to pursue when anthropological methods are exhausted.The case study presented here demonstrates a collaborative approach between forensic anthropologists,forensic genetic genealogists,and law enforcement in a century-old homicide.The dismembered and mummified parts of a male body were recovered in a remote cave in 1979 and again in 1991.Despite forensic anthropologists creating and updating the biological profile over the decades from recovery to present,no identification was made until the application of forensic genetic genealogy(FGG)to the case in 2019.New interpretations of bone microstructure and trauma analysis are presented for the case,alongside the historical documentation and“proof of life”evidence used by the genealogy team.A review of the FGG methods underscores the challenges in this case(e.g.significant endogamy,multiple aliases used by the victim)and the steps taken toward resolution.Ultimately,a combined anthropology and genealogy approach resulted in a confirmed identity for a man who was murdered in 1916.
基金supported by the grants from the 12th Five-year Plan National Key Technology R&D Program of the Ministry of Science and Technology of P.R.China (2012BAK16B01)the National Natural Science Foundation of P.R.China (81330073, 81222041)
文摘Species identification of biological samples is widely used in such fields as forensic science and food industry. A variety of accurate and reliable methods have been developed in recent years. The current review shows common target genes and screening criteria suitable for species identification, and described various DNA-based molecular biology methods about species identification. Additionally, it discusses the future development of species identification combined with real-time PCR and sequencing technologies.
基金supported by the Fundamental Research Funds for the Central Universities.In addition,this study was also supported by opening research grants from Shanghai Key Lab of Forensic Medicine,Key Lab of Forensic Science,the Ministry of Justice,PR.China(Academy of Forensic Science)(No.KF202111).
文摘A six-color fluorescent multiplex amplification system for 31 Y-chromosomal short tandem repeats(Y-STRs)(DYS19,DYS390,DYS391,DYF399S1,DYF404S1,DYS439,DYS444,DYS449,DYS452,DYS456,DYS458,DYS460,DYS481,DYS508,DYS513,DYS516,DYS518,DYS543,DYS547,DYS549,DYS552,DYS557,DYS570,DYS576,DYS612,DYS622,DYS626,DYS627,DYS630,DYS635,and Y-GATA-A10)was developed for investigating the mutation rates of 31 highly mutated Y-STR genes in the Han population of northern China.The mutation rates of the 31 highly mutated Y-STRs were calculated using the father-son pair study method after typing 526 Northern Han father-son pairs with this system.Statistically,148 Y-STR mutations were found,with mutation rates ranging from 0(95%confidence interval[CI]0 to 9.0×10^(−3),DYS622)to 7.0×10^(−2)(95%CI 5.1×10^(−2)to 9.7×10^(−2),DYF399S1).Out of these,126 father-son pairs were successfully identified,with a distinction rate of 24.0%(95%CI 20.4%-27.9%).The ability of the 31 highly mutated Y-STRs to distinguish closely related males from the same paternal lineage in the Northern Han population is extremely valuable for criminal investigations and other purposes.
文摘The generation of a DNA profile from skeletal remains is an important part of the identifica-tion process in both mass disaster and unidentified person cases. Since bones and teeth are often the only biological materials remaining after exposure to environmental conditions, intense heat, certain traumatic events and in cases where a significant amount of time has passed since the death of the individual, the ability to purify large quantities of informative DNA from these hard tissues would be beneficial. Since sampling the hard tissues for gen-etic analysis is a destructive process, it is important to understand those environmental and intrinsic factors that contribute to DNA preservation. This will serve as a brief introduction to these topics, since skeletal sampling strategies and molecular taphonomy have been dis-cussed in depth elsewhere. Additionally advances in skeletal DNA extraction and analysis will be discussed. Currently there is great variation in the DNA isolation methods used by laboratories to purify DNA from the hard tissues;however, a standardized set of short tan-dem repeat (STR) loci is analyzed by many US laboratories to allow for comparisons across samples and jurisdictions. Recent advances have allowed for the generation of DNA profiles from smaller quantities of template DNA and have expanded the number of loci analyzed for greater discriminatory power and predictions regarding the geographic ancestry and phenotype of the individual. Finally, utilizing databases and expanding the number of com-parison samples will be discussed in light of their role in the identification process.
基金This study was supported by grants from the National Key R&D Program of China[grant number 2016YFC0800703]the National Natural Science Fund of China[grant numbers 81625013 and 81772028]+2 种基金the Shanghai Technology Stan-dard Programme[grant number 16DZ0501600]the Shang-hai Key Laboratory of Forensic Medicine[grant number 17DZ2273200]the Shanghai Forensic Service Platform[grant number 16DZ2290900].
文摘A forensic validation study of the Early Access HuaxiaTM Platinum Polymerase Chain Reaction (PCR) kit was completed to document the performance capabilities and limitations.The genotyping of DNA samples was consistent across a large range of template DNA concentrations,with complete profiles obtained at 0.125 ng;however,no more than 2 mm× 1.2 mm punches of samples would be recommended for direct amplification.The size precision and accuracy test revealed the genotyping ability;while consistent results were obtained when comparing the kit with other commercially available systems.In addition,the whole PCR amplification can finish within approximately 45 min,making the system suitable for fastdetection.However,only partial profiles may be obtained with challenging samples,including DNA stored on Foam-Tipped Applicators (FTA) cards or some case samples.For the forensic application in ethnic groups,a total of 282 and 229 alleles were obtained in Han and Mongolia,respectively.Since the 23 short tandem repeats were independent from each other,the cumulative power of exclusion in duos was 0.999999157188 and the cumulative power of exclusion in trios was 0.999999999859 in the Han group while the cumulative power of exclusion in duos (CPEduo) was 0.999 998 848 26 and cumulative power of exclusion in trios (CPEtrio) was 0.999 999 999 79 in the Mongolia group.And good internal consistency was found between the two investigated groups and the Sichuan Han,Hui,Tibetan and Uygur according to available reference data.
基金This work was supported by the National Natural Science Foundation of China[grant numbers 81571854 and 81871532]the Open Project of Key Laboratory of Forensic Genetics in Ministry of Public Security[grant number 2017FGKFKT01]the Fundamental Research Funds for the Central University[grant number YJ201651].
文摘With the characteristics of low mutation rate,length variation and short amplicon size,insertion/deletion polymorphisms(InDels)have the advantages of both short tandem repeats(STRs)and single nucleotide polymorphisms(SNPs).Herein,people of two ethnicities from Hainan Island were genotyped for the first time using the Investigator DIPplex kit.We investigated the forensic parameters of the 30 InDels and the phylogenetic relationships among different populations.The accumulated powers of discrimination and powers of exclusion were 0.9999999999646 and 0.9897 in the Hainan Han population and 0.9999999999292 and 0.9861 in the Hainan Li population,respectively.Additionally,population comparisons among geographically,ethnically and linguistically diverse populations via cluster heatmap,multidimensional scaling,principal component analysis,phylogenetic tree and STRUCTURE analyses demonstrated that the Hainan Han population had genetic similarities to the other Han,She and Tujia populations,while the Hainan Li population had close genetic relationships to the Zhuang and Miao groups;both populations had a high degree of genetic differentiation from most Turkic-speaking populations.Aforementioned results suggested that the 30 autosomal InDels are highly polymorphic and informative,which are suitable for human identification and population genetics.
基金This study is supported by the National Natural Science Foundation of China[grant numbers 81601651 and 81625013]the Science and Technology Committee of Shanghai Municipality[grant numbers 16dz1205500,16DZ2290900 and 17DZ2273200]+1 种基金the National Key R&D Program of China[grant number 2016YFC0800703]the Ministry of Finance of China[grant number GY2016D1].
文摘Thanatomicrobiome,or the postmortem microbiome,has been recognized as a useful microbial marker of the time and location of host death.In this mini-review,we compare the experimental methods commonly applied to thanatomicrobiome studies to the state-of-the-art methodologies in the microbiome field.Then,we review present findings in thanatomicrobiome studies,focusing on the diversity of the thanatomicrobiome composition and prediction models that have been proposed.Finally,we discuss potential improvements and future directions of the field.
文摘Many studies have examined the genetic contribution to suicide.However,data on suicide in the Italian population are scarce.We therefore aimed to address this gap by investigating a cohort of 111 Italians for whom a verdict of suicide had been declared in court in Florence,Italy between 2007 and 2017.This cohort included 86 men and 25 women.DNA samples were obtained from tissues or blood,and 22 genes from multiple neurobiological pathways previously shown to be associated with the pathogenesis of suicide were analysed.Next-generation sequencing was used to compare these gene sequences with those from a large,normal population.In this study,we identified 19 gene variants that were present at significantly lower frequencies in our Italian cohort than in the general population.In addition,four missense mutations were identified in four different genes:Monoamine Oxidase A(MAOA),5-Hydroxytryptamine Receptor 2 A(HTR2A),Sodium Voltage-Gated Channel Alpha Subunit 8(SCN8A),and Nitric Oxide Synthase 3(NOS3).Our study identified several potential genetic links with suicide in a cohort of Italians and supports a relationship between specific genetic variants and suicidal behaviour in this population.
基金This study was supported by National Natural Science Foundation of China(NSFC,81930055 and 81772031)Guangdong Province Universities and Colleges Pearl River Scholar Funded Scheme(GDUPS,2017).
文摘In this research,genotyping data of 43 InDel loci in 311 Han individuals in Ankang City,Shaanxi Province,China were detected using a self-developed five-dye multiplex amplification panel.The allelic frequencies and forensic parameters of all InDel loci were calculated.The combined power of discrimination and probability of exclusion values were 0.99999999999999999882739 and 0.999887424,respectively,which demonstrated that this 43-InDel panel was powerful for individual identifications in Ankang Han population.Moreover,genetic distances,pairwise F_(ST)values,principal component analyses,phylogenetic trees and STRUCTURE analyses were performed to investigate the genetic affinities between Ankang Han and reference groups.Population genetic investigations indicated that Ankang Han population had a close genetic relationship with Southern Han population compared with other reference groups.
基金This work was supported by the National Natural Science Foundation of China[grant numbers 81860258 and 31860300]Joint Special Funds for the Department of Science and Technology of Yunnan Province-Kunming Medical University[grant numbers 2017FE467(-022),2018FE001(-131)and 2019FE001(-011)]+3 种基金Yunnan Educational Science Foundation program[grant numbers 2018JS170 and 2018JS171]Yunnan Provincial Young Academic and Technical Leader Reserve Talent Project[grant number 2018HB104]Hundred-Talent Program of Kunming Medical University[grant number 60117190447]Science and Technology Innovation Group of Kunming Medical University[grant number CXTD201803].
文摘X chromosomal short tandem repeats(X-STRs)have the characteristics of both autosomal and uniparental genetic markers and have been shown to be particularly useful in forensic casework.However,relevant research or reports have not focused on X-STRs in the Hani population.To investigate the genetic variation and forensic efficiency of 16 X-STR loci in the Hani ethnic minority,we calculated the allele frequencies and forensic parameters of 451(116 males and 335 females)unrelated healthy Hani individuals from Yunnan Province,Southwest China.All these loci are highly polymorphic in Hani individuals in Yunnan Province except DXS6800.The combined power of discrimination in males(PDM)and power of discrimination in females(PDF)were found to be 0.999999998433993 and 0.999999999999998,respectively.Furthermore,a population genetic structure investigation between the Yunnan Hani population and another 18 populations was performed using a principal component analysis,multidimensional scaling plot and neighbouring-joining phylogenetic tree and the findings illustrated that neighbouring populations and different nationalities in the same area appeared to have a closer evolutionary relationship.This study provides the first batch of X chromosome genetic polymorphism data of the Hani population in Yunnan Province,Southwest China and enriches the reference database of the Chinese minority population.
基金supported by the National Natural Science Foundation of China[grant number 81525015].
文摘Y chromosomal genetic markers in the non-recombining region are commonly used for human evolution research,familial searching,and forensic male differentiation since they strictly follow paternal inheritance.Y chromosomal short tandem repeats(Y-STRs)possess extraordinarily advantages in forensic applications because of their high polymorphisms and special genetic pattern.Here,we assessed the genetic diversities of 41 Y-STRs and three Y chromosomal insertion/deletion(Y-InDels)loci in the Chinese Inner Mongolia Han population;besides,genetic differentiation analyses among the studied Han population and other previously reported populations were conducted based on 27 same Y-STRs.Totally,425 alleles were observed in 324 Inner Mongolia Han individuals for these Y-markers.Gene diversities of these Y-markers distributed from 0.0306 to 0.9634.The haplotype diversity and discriminatory capacity of these Y-markers in the Inner Mongolia Han population were 0.9999 and 0.98457,respectively.Haplotype resolution comparisons of different Y-marker groups in the studied Han population revealed that higher haplotype resolution could be achieved for these 44 Y-markers.Population genetic analyses of the Inner Mongolia Han population and other reference populations demonstrated that the studied Han population had relatively closer genetic affinities with Northern Han Chinese populations than Southern Han and other minority groups.To sum up,these 44 Y-markers can be utilized as a valuable tool for male differentiation in the Inner Mongolia Han population.
基金This work was supported by the National Natural Science Foundation of China[grant number 81401557]This study was funded by ICH-GCP Standardization Construction and Innovation of GCP System[grant number 2018ZX09201018-020].
文摘Short tandem repeats on the Y chromosome(Y-STRs),characterized by paternal inheritance,are valuable in forensic practice.Notably,the potential application of Y-STRs in pedigrees should be drawn upon,especially in China’s surname-concentrated natural villages.The study focused on 50 Y-STRs,including 13 rapidly mutating(RM)Y-STRs that largely constitute the current Y-STR commercial kits,and determined the differences in these Y-STRs between branches in a large pedigree and the discriminatory power of these haplotypes in different units for male relatives.As indicated in the results,14 inconsistencies were observed at 9 Y-STRs between 10 father-son pairs.In addition,these 50 Y-STR haplotypes discriminated 10 out of 47 father-son pairs,106 of 148 cousin pairs,70 of 119 uncle-nephew pairs,17 of 39 brother pairs,and 14 out of 33 grandfather-grandson pairs in a large pedigree.The RM Y-STR set is able to differentiate close male relatives in a large pedigree.
基金This project was supported by the Shanghai Key Laboratory of Forensic Medicine(Academy of Forensic Science)Open Project Foundation[grant number KF1812]the National Natural Science Foundation of China[grant number 81971786].
文摘As a result of the expansion of old Tibet on the Qinghai-Tibet Plateau,Tibetans diverged into three main branches,Ü-Tsang,Amdo,and Kham Tibetan.Ü-Tsang Tibetans are geographically distributed across the wide central and western portions of the Qinghai-Tibet Plateau while Lhasa is the central gathering place for Tibetan culture.The AGCU Y30,a 6-dye fluorescence kit including 30 slowly and moderately mutated Y-STR loci,has been validated for its stability and sensitivity in different biomaterials and diverse Chinese populations(Han and other minorities),and widely used in the practical work of forensic science.However,the 30 Y-STR profiling of Tibetan,especially forÜ-Tsang Tibetan,were insufficient.We utilized the AGCU Y30 to genotype 577Ü-Tsang Tibetan unrelated males from Lhasa in the Tibet Autonomous Region of China to fill up the full and accurate Y-STR profiles.A total of 552 haplotypes were observed,536(97.10%)of which were unique.One hundred and ninety-four alleles were observed at 26 single copy loci and the allelic frequencies ranged from 0.0017 to 0.8180.For the two multi-copy loci DYS385a/b and DYS527a/b,64 and 36 allelic combinations were observed,respectively.The gene diversity(GD)values ranged from 0.3079 at DYS391 to 0.9142 at DYS385a/b and the overall haplotype diversity(HD)was 0.9998,and its discrimination capacity(DC)was 0.9567.The population genetic analyses demonstrated that LhasaÜ-Tsang Tibetan had close relationships with other Tibetan populations from Tibet and Qinghai,especially withÜ-Tsang Tibetan.From the perspective of Y haplogroups,the admixture of the southward Qiang people with dominant haplogroup O-M122 and the northward migrations of the initial settlers of East Asia with haplogroup D-M175 hinted the Sino-Tibetan homologous,thus,we could not ignore the gene flows with other Sino-Tibetan populations,especially for Han Chinese,to characterize the forensic genetic landscape of Tibetan.
文摘Short tandem repeats(STRs)play an essential role in forensic genetics due to their high degree of polymorphisms,wide distributions and easy detection method.In this study,allelic frequencies and forensic statistical parameters of the 19 autosomal STR loci in a Kazak ethnic group were calculated,and its genetic relationships with reference populations were assessed in order to understand population structure better and enrich population genetic data for forensic practice in Chinese Kazak ethnic group.There were 226 identified alleles with the corresponding allelic frequencies ranging from 0.0008 to 0.5295 in the 628 unrelated healthy Kazak individuals in Xinjiang Uygur Autonomous Region.All autosomal STRs were conformed to the Hardy-Weinberg equilibrium after Bonferroni’s correction.The cumulative power of discrimination and the combined probability of exclusion of all the 19 autosomal STRs were 0.999999999999999999999997162 and 0.999999994484,respectively.Furthermore,the DA distances and Fixation index values of pairwise populations,principal component analysis,multidimensional scaling analysis,phylogenetic tree analysis and structure analysis were conducted to probe the genetic relationships between the Kazak group and other reference populations.The population genetic results showed that these 19 autosomal STR loci were characterised by high genetic diversities in the Kazak group.Furthermore,the studied Kazak group had close genetic relationships with the Uyghur group and the Uzbek group.The present results may facilitate understanding the genetic background of the Chinese Xinjiang Kazak group.
基金This study was supported by grants from the National Youth Top-Notch Talent of Ten Thousand Program[grant number WRQB2019]the Youth Science and Technology Innovation Leader of Ten Thousand Program[grant number 2018RA2102],China.
文摘Insertion/deletion polymorphisms(InDels)have been treated as a prospective and helpful genetic marker in the fields of forensic human identification,anthropology and population genetics for the past few years.In this study,we developed a six-dye multiplex typing system consisting of 34 autosomal InDels and Amelogenin for forensic application.The contained InDels were specifically selected for Chinese population with the MAF≥0.25 in East Asia,which do not overlap with the markers of Investigator^(■)DIPplex kit.The typing system was named as GoldeneyeTM DNA ID System 35InDel Kit,and a series of developmental validation studies including repeatability/reproducibility,concordance,accuracy,sensitivity,stability,species specificity and population genetics were conducted on this kit.We confirmed that the 35InDel kit is precise,sensitive,species specific and robust for forensic practice.Moreover,the 35InDel kit is capable of typing DNA extracted from forensic routine case-type samples as well as degraded samples and mixture samples.All markers are proved to be highly polymorphic with an average observed heterozygosity(He)of 0.4582.The combined power of discrimination(CPD)is 0.999999999999978 and the combined power of exclusion in duos(CPE_(D))and trios(CPE_(T))are 0.978837 and 0.999573,respectively,which are higher than those of the Investigator^(■)DIPplex kit.Thus,the GoldeneyeTM DNA ID System 35InDel kit is suitable for forensic human identification and could serve as a supplementary typing system for paternity testing.
