Five characteristics(hair forms,nasal profile,nostril forms,mongoloid fold and upper eyelid fold)were respectively investigated in six nationalities,including the Buyi,Miao,Shui,Maonan,Dong,and Han nationalities in So...Five characteristics(hair forms,nasal profile,nostril forms,mongoloid fold and upper eyelid fold)were respectively investigated in six nationalities,including the Buyi,Miao,Shui,Maonan,Dong,and Han nationalities in Southern Guizhou,China.The gene frequencies of five characteristics in the six nationalities were estimated and compared.The results indicated that:(1)for hair forms and nasal profile,the frequency of the dominant gene was lower than that of their recessive gene,but the opposite was true for nostril forms.(2)Among different nationalities,the difference of gene frequency of the mongoloid fold,nasal profile,hair forms and upper eyelid fold was quite significant,which was followed by that of nostril forms.展开更多
X-linked redegreen color blindness is the most widespread form of vision impairment.The study aimed to determine the prevalence and gene frequencies of redegreen color vision impairments among children of six differen...X-linked redegreen color blindness is the most widespread form of vision impairment.The study aimed to determine the prevalence and gene frequencies of redegreen color vision impairments among children of six different human populations of Jammu province.A total of 1028 healthy subjects(6e15 years of age)were selected from five Muslim populations and the color vision impairments were determined using the Ishihara’s test of color deficiency.The gene frequency was calculated using HardyeWeinberg equilibrium method.The prevalence of color vision deficiency(CVD)ranged from 5.26%to 11.36%among males and 0.00%e3.03%among females of six different populations.The gender based differences in the frequency of CVD was found to be statistically significant(p<0.0001),with a higher prevalence among male(7.52%)as compared to female(0.83%)children.We observed high frequency of deutan as compared to protan defects.The incidences of deuteranomaly(5.68%)and deuteranopia(2.27%)were higher among male children of Syed population while the frequencies of protanomaly(1.94%),protanopia(1.28%)and achromacy(2.27%)were the highest among male subjects of Khan,Malik and Syed populations,respectively.The allele and genotype frequencies showed cogent differences among six populations.The population based assessment of CVDs help patients to follow adaptive strategies that could minimize the risks of the disease.展开更多
Objective:To screen the blood group system genes of Duffy,Lutheran,Kidd,Diego,Dombrock blood group systems of Li ethnic group in Hainan Province and provide laboratory data for the rare blood group database in this ar...Objective:To screen the blood group system genes of Duffy,Lutheran,Kidd,Diego,Dombrock blood group systems of Li ethnic group in Hainan Province and provide laboratory data for the rare blood group database in this area.Methods:The alleles of Duffy,Lutheran,Kidd,Diego,Dombrock blood group systems of 300 voluntary participants of Li ethnic group in Hainan were detected by sequence-specific primer polymerase chain reaction,and the polymorphism was analyzed.Results:The allele frequencies of Duffy,Lutheran,Kidd,Diego,Dombrock blood group systems of Li ethnic groups in Hainan Province are 0.9583 for Fy^(a),0.0417 for Fy^(b),0.8350 for Au^(a),0.1650 for Au^(b),0.4500 for Jk^(a),0.5500 for Jk^(b),0.0667 for Di^(a),0.9333 for Di^(b),0.1017 for Doa and 0.8983 for Dob,respectively.The antigen incompatibility rates of Fy^(a)/Fy^(b),Au^(a)/Au^(b),Jk^(a)/Jk^(b),Di^(a)/Di^(b),Doa/Dob of Duffy,Lutheran,Kidd,Diego,Dombrock blood group systems were 7.67%,23.76%,37.25%,11.67%and 16.60%,respectively.Conclusion:The gene frequencies of Duffy,Lutheran,Kidd,Diego,Dombrock blood group systems of Li ethnic group in Hainan Province are polymorphic,and the antigen incompatibility rates of alleles are higher,which is quite different from that of other nationalities in China and with unique ethnic distribution characteristics.It is of great significance to establish the rare blood group database in this region.展开更多
Objective To study the genetic relationship between Kirgiz individuals living in Sinkiang China and analyze the difference among Kirgiz and the other population with STR polymorphisms.Methods PCR amplification was per...Objective To study the genetic relationship between Kirgiz individuals living in Sinkiang China and analyze the difference among Kirgiz and the other population with STR polymorphisms.Methods PCR amplification was performed using PE9700,the PCR products were typed by automated sequencer and genescan.Results A database of nine STR loci of Kirgiz was established.It shows there are at least 73 STR alleles and 191 genotypes in Kirgiz.Genotype frequencies distribution showed no deviation from Hardy-Weinberg equilibrium by χ2-test.Kirgiz was compared with the other Chinese ethnic groups,then the American Black and the White.Conclusion These results suggested that the nine STR loci and Amelogenin locus were very useful in human identification,biological archaeology and gene resource studies.展开更多
Background:Significant brain volume deviation is an essential phenotype in children with neurodevelopmental delay(NDD),but its genetic basis has not been fully characterized.This study attempted to analyze the genetic...Background:Significant brain volume deviation is an essential phenotype in children with neurodevelopmental delay(NDD),but its genetic basis has not been fully characterized.This study attempted to analyze the genetic factors associated with significant whole-brain deviation volume(WBDV).Methods:We established a reference curve based on 4222 subjects ranging in age from the first postnatal day to 18 years.We recruited only NDD patients without acquired etiologies or positive genetic results.Cranial magnetic resonance imaging(MRI)and clinical exome sequencing(2742 genes)data were acquired.A genetic burden test was performed,and the results were compared between patients with and without significant WBDV.Literature review analyses and BrainSpan analysis based on the human brain developmental transcriptome were performed to detect the potential role of genetic risk factors in human brain development.Results:We recruited a total of 253 NDD patients.Among them,26 had significantly decreased WBDV(<-2 standard deviations[SDs]),and 14 had significantly increased WBDV(>+2 SDs).NDD patients with significant WBDV had higher rates of motor development delay(49.8%[106/213]vs.75.0%[30/40],P=0.003)than patients without significant WBDV.Genetic burden analyses found 30 genes with an increased allele frequency of rare variants in patients with significant WBDV.Analyses of the literature further demonstrated that these genes were not randomly identified:burden genes were more related to the brain development than background genes(P=1.656e^(-9)).In seven human brain regions related to motor development,we observed burden genes had higher expression before 37-week gestational age than postnatal stages.Functional analyses found that burden genes were enriched in embryonic brain development,with positive regulation of synaptic growth at the neuromuscular junction,positive regulation of deoxyribonucleic acid templated transcription,and response to hormone,and these genes were shown to be expressed in neural progenitors.Based on single cell sequencing analyses,we found TUBB2B gene had elevated expression levels in neural progenitor cells,interneuron,and excitatory neuron and SOX15 had high expression in interneuron and excitatory neuron.Conclusion:Idiopathic NDD patients with significant brain volume changes detected by MRI had an increased prevalence of motor development delay,which could be explained by the genetic differences characterized herein.展开更多
文摘Five characteristics(hair forms,nasal profile,nostril forms,mongoloid fold and upper eyelid fold)were respectively investigated in six nationalities,including the Buyi,Miao,Shui,Maonan,Dong,and Han nationalities in Southern Guizhou,China.The gene frequencies of five characteristics in the six nationalities were estimated and compared.The results indicated that:(1)for hair forms and nasal profile,the frequency of the dominant gene was lower than that of their recessive gene,but the opposite was true for nostril forms.(2)Among different nationalities,the difference of gene frequency of the mongoloid fold,nasal profile,hair forms and upper eyelid fold was quite significant,which was followed by that of nostril forms.
文摘X-linked redegreen color blindness is the most widespread form of vision impairment.The study aimed to determine the prevalence and gene frequencies of redegreen color vision impairments among children of six different human populations of Jammu province.A total of 1028 healthy subjects(6e15 years of age)were selected from five Muslim populations and the color vision impairments were determined using the Ishihara’s test of color deficiency.The gene frequency was calculated using HardyeWeinberg equilibrium method.The prevalence of color vision deficiency(CVD)ranged from 5.26%to 11.36%among males and 0.00%e3.03%among females of six different populations.The gender based differences in the frequency of CVD was found to be statistically significant(p<0.0001),with a higher prevalence among male(7.52%)as compared to female(0.83%)children.We observed high frequency of deutan as compared to protan defects.The incidences of deuteranomaly(5.68%)and deuteranopia(2.27%)were higher among male children of Syed population while the frequencies of protanomaly(1.94%),protanopia(1.28%)and achromacy(2.27%)were the highest among male subjects of Khan,Malik and Syed populations,respectively.The allele and genotype frequencies showed cogent differences among six populations.The population based assessment of CVDs help patients to follow adaptive strategies that could minimize the risks of the disease.
基金Hainan Provincial Natural Science Foundation of China(No.820QN410)Hainan Province Clinical Medical Center(No.QWYH202175)。
文摘Objective:To screen the blood group system genes of Duffy,Lutheran,Kidd,Diego,Dombrock blood group systems of Li ethnic group in Hainan Province and provide laboratory data for the rare blood group database in this area.Methods:The alleles of Duffy,Lutheran,Kidd,Diego,Dombrock blood group systems of 300 voluntary participants of Li ethnic group in Hainan were detected by sequence-specific primer polymerase chain reaction,and the polymorphism was analyzed.Results:The allele frequencies of Duffy,Lutheran,Kidd,Diego,Dombrock blood group systems of Li ethnic groups in Hainan Province are 0.9583 for Fy^(a),0.0417 for Fy^(b),0.8350 for Au^(a),0.1650 for Au^(b),0.4500 for Jk^(a),0.5500 for Jk^(b),0.0667 for Di^(a),0.9333 for Di^(b),0.1017 for Doa and 0.8983 for Dob,respectively.The antigen incompatibility rates of Fy^(a)/Fy^(b),Au^(a)/Au^(b),Jk^(a)/Jk^(b),Di^(a)/Di^(b),Doa/Dob of Duffy,Lutheran,Kidd,Diego,Dombrock blood group systems were 7.67%,23.76%,37.25%,11.67%and 16.60%,respectively.Conclusion:The gene frequencies of Duffy,Lutheran,Kidd,Diego,Dombrock blood group systems of Li ethnic group in Hainan Province are polymorphic,and the antigen incompatibility rates of alleles are higher,which is quite different from that of other nationalities in China and with unique ethnic distribution characteristics.It is of great significance to establish the rare blood group database in this region.
基金This work was supported by the National Natural Science Foundation of China(No.39940401).
文摘Objective To study the genetic relationship between Kirgiz individuals living in Sinkiang China and analyze the difference among Kirgiz and the other population with STR polymorphisms.Methods PCR amplification was performed using PE9700,the PCR products were typed by automated sequencer and genescan.Results A database of nine STR loci of Kirgiz was established.It shows there are at least 73 STR alleles and 191 genotypes in Kirgiz.Genotype frequencies distribution showed no deviation from Hardy-Weinberg equilibrium by χ2-test.Kirgiz was compared with the other Chinese ethnic groups,then the American Black and the White.Conclusion These results suggested that the nine STR loci and Amelogenin locus were very useful in human identification,biological archaeology and gene resource studies.
基金grants from the Science and Technology Commission of Shanghai Municipal(No.19411964400)Shanghai Municipal Science and Technology Major Project(No.2018SHZDZX01)ZJLab.
文摘Background:Significant brain volume deviation is an essential phenotype in children with neurodevelopmental delay(NDD),but its genetic basis has not been fully characterized.This study attempted to analyze the genetic factors associated with significant whole-brain deviation volume(WBDV).Methods:We established a reference curve based on 4222 subjects ranging in age from the first postnatal day to 18 years.We recruited only NDD patients without acquired etiologies or positive genetic results.Cranial magnetic resonance imaging(MRI)and clinical exome sequencing(2742 genes)data were acquired.A genetic burden test was performed,and the results were compared between patients with and without significant WBDV.Literature review analyses and BrainSpan analysis based on the human brain developmental transcriptome were performed to detect the potential role of genetic risk factors in human brain development.Results:We recruited a total of 253 NDD patients.Among them,26 had significantly decreased WBDV(<-2 standard deviations[SDs]),and 14 had significantly increased WBDV(>+2 SDs).NDD patients with significant WBDV had higher rates of motor development delay(49.8%[106/213]vs.75.0%[30/40],P=0.003)than patients without significant WBDV.Genetic burden analyses found 30 genes with an increased allele frequency of rare variants in patients with significant WBDV.Analyses of the literature further demonstrated that these genes were not randomly identified:burden genes were more related to the brain development than background genes(P=1.656e^(-9)).In seven human brain regions related to motor development,we observed burden genes had higher expression before 37-week gestational age than postnatal stages.Functional analyses found that burden genes were enriched in embryonic brain development,with positive regulation of synaptic growth at the neuromuscular junction,positive regulation of deoxyribonucleic acid templated transcription,and response to hormone,and these genes were shown to be expressed in neural progenitors.Based on single cell sequencing analyses,we found TUBB2B gene had elevated expression levels in neural progenitor cells,interneuron,and excitatory neuron and SOX15 had high expression in interneuron and excitatory neuron.Conclusion:Idiopathic NDD patients with significant brain volume changes detected by MRI had an increased prevalence of motor development delay,which could be explained by the genetic differences characterized herein.
