Karyotype prescription is based on clinical signs (or reasons for karyotype prescription) which are phenotypic manifestations associated with chromosomal abnormalities. The aim of this study was to establish a corresp...Karyotype prescription is based on clinical signs (or reasons for karyotype prescription) which are phenotypic manifestations associated with chromosomal abnormalities. The aim of this study was to establish a correspondence between karyotype indications and their results in patients. This was a retrospective study that was carried out in the Histology-Embryology-Cytogenetics laboratory of the University Hospital of Cocody-Abidjan from 2014 to 2019. 58 patient files were identified and included the indication or reason for prescribing a constitutional karyotype and the biological result obtained. An individual data sheet was used to collect the data. 17 reasons for prescription were identified and divided into 2 groups. Sexual ambiguity was the most frequent reason (29.3%). The first group (G1) represented the 10 reasons for which the karyotype results were normal. The second group (G2) corresponded of the 7 motives with normal or abnormal karyotype results. Several anomalies were listed according to these reasons: inversions, mosaics (anomalies of number and structure) and trisomy 21. The last was the most frequent chromosomal anomaly (69.24%). It was found in several reasons for karyotype prescription: malformations, neurological disorders, suspected trisomy and cardiac pathology. Several factors could explain these results, among which are the limits of the karyotype and the non-genetic causes that can induce these abnormal phenotypes. Complementary examinations to the karyotype are molecular cytogenetic techniques, notably fluorescence in situ hybridization (FISH) and array comparative genomic hybridization (Array-CGH).展开更多
The karyotypes of 27 individuals of Elymus nutans from eight wild populations in the Qinghai Plateau were analyzed using sequential FISH and GISH. High FISH pattern polymorphism and karyotype variation were detected w...The karyotypes of 27 individuals of Elymus nutans from eight wild populations in the Qinghai Plateau were analyzed using sequential FISH and GISH. High FISH pattern polymorphism and karyotype variation were detected within and among populations. The chromosome variations were mainly characterized as repeat deletions and amplifications along with inter-genomic translocations. The chromosomes of the St and Y genomes demonstrated higher polymorphism than those of the H genome. Six different intergenomic translocations were identified in 33.3% of individuals; type Ⅰ and Ⅱ translocations were detected with higher frequency. Further analysis revealed that type Ⅰ and Ⅱ translocations were distributed in different geographic regions. The origin of high karyotype variation of E. nutans in the Qinghai plateau is further discussed.展开更多
The karyotypes of three species of marine Veneroida molluscs, Solen grandis Dunker, Saxidomus purpuratus Sowerby and Mactra chinensis Philippi were studied by using the adult gill tissues. The chromosomes were prepare...The karyotypes of three species of marine Veneroida molluscs, Solen grandis Dunker, Saxidomus purpuratus Sowerby and Mactra chinensis Philippi were studied by using the adult gill tissues. The chromosomes were prepared through injecting phytohemagglutinin (PHA) and colchicine, hypotonic treatment, chopping air-dry, and squashing technology. The results show that the diploid chromosome numbers of the three Veneroida species are the same as 2n=38. The karyotype of Solen grandis is 26m+6sm+2st+4t, NF=70, the karyotype of Saxidomus purpuratus is 32m+2sm+4st/t, NF=72, and the karyotype of Mactra chinensis is 20m+16sm+2st/t, NF=74. Satellite and sex chromosome were not found among the chromosomes of three species.展开更多
This paper reported karyotypes of the Hobby and Kestrel collected from the suburb of Qiqihaer City.These karyotypes were compared and analyzed, on the basis of tile study of karyotypes of nine birds species in Falconi...This paper reported karyotypes of the Hobby and Kestrel collected from the suburb of Qiqihaer City.These karyotypes were compared and analyzed, on the basis of tile study of karyotypes of nine birds species in Falconiformes by Bfan Xiaozhuang and Li Qingwei. It was considered that differences in habits of birds and ecological environment not only cause fslcons to differ from others, but also differences in a genus, even within a species. This difference may result from fusion of microchromosomes.展开更多
The chromosomal number variations & structural aberrations of the MDCK cell line, primary feline or canine kidney cell(FKC or CKC) and Hela cell line were investigated and their karyotypes of conventional chromoso...The chromosomal number variations & structural aberrations of the MDCK cell line, primary feline or canine kidney cell(FKC or CKC) and Hela cell line were investigated and their karyotypes of conventional chromosome bands were analyzed. The carcinogenesis or tumorigenicity testing of these cell lines in about 232 nude mice and for colony formation in soft agarose and for haemagglutination under different concentration of plant lectins of these cells were carried out. Under the prerequisite that the incidence of cancer or tumor in negative-control nude mice inoculated subcutaneously with primary feline or canine kidney cell cultures purified in vitro at passage 3 was 0 (0/22) and 0 (0/10), respectively. The incidence of the progressively-growing malignant tumor(MT) in positive-control nude mice inoculated subcutaneously with Hela cell cultures of KB, X, or NM20/X strain was 10/10, 25/25 and 5/51, respectively. The results showed that the incidence of tumor in nude mice with tetrapioid YA strain of MDCK cell during 20 - 45 passages, with hypodiploid JB strain of MDCK cell on passage 25, with di-and hypoploid JC strain of MDCK cell during 2 - 15passages or with hypoploid M strain of MDCK cell during 9 - 27 passages was 28/58, 1/5, 4/18 and 0/31,respectively. The chromosomal analysis results showed that the ratio of difference in the rate of modal chromosome number between high (mcs + n) and lowest (mcs)passages was not more than 5 % - 15 % and the structure aberrations was generally 0 - 3%. These results proved that the genetic characteristics of chromosomal number of cell lines determines their tumorigenicity, but it is species-specific. MDCK line has tumorigenicity no matter what its chromosome karyotype is, at least it has very low tumorigenicity even when its modal chromosome number is hypoploid. The repeatedly frozen, thawed and split controls of tumorigenicity-positive cell lines(X strain of Hela, M strain of BHK-21, JA strain of Vero, YA strain of MDCK) have much lower tumorigenicity or are even non-carcinogenesis, and the repeatedly frozen, thawed and split controls of very low tumorigenicity cell lines (M or JC strain of MDCK) are certainly non-carcinogenic and never have increased tumorigenicity.It is thus evident that MDCK cell of M, JB or JC strain can be approved as substrate for the preparation of attenuated viral vaccines, but MDCK cell of YA strain can not be approved as substrate for the preparation of comattenuated viral vaccines. In summary, all strains of MDCK cell line have tunorigenicity, at least have low tumorigencity, never have non-cancinogenic MDCK, but very low tumorigenicity MDCK cell strains can certainly be used for the approval production of canine viral vaccines if the DNA content in viral cell cultures was remarkably decreased through conventional means in manufacturing process. Therefore, the master cell stock and working cell bank of MDCK line used for vaccine manufacture were established in China, which are free of infectious agents, and described with respect to cytogenetic characteristics and tumorigenicity. Tests showed that there were correlations among cell line chromosome number variations, anchorage independence in soft agarose, haemagglutination under plant lectins, and tumor-forming ability in nude mice, thus all the in vitro tests are economic, simple and reliable means for monitoring the tumor-forming ability of MDCK line in nude mice.展开更多
Ocimum basilicum is widely distributed in the tropical and subtropical regions of the world, with greatest variability in Africa and India. It is valued in many countries for its culinary, medicinal, industrial and re...Ocimum basilicum is widely distributed in the tropical and subtropical regions of the world, with greatest variability in Africa and India. It is valued in many countries for its culinary, medicinal, industrial and religious importance. Although cytogenetic entries on the plant have been made in other geographical locations of the world, in Nigeria, such entries, prior to this report, have been limited if not completely unavailable. In this analysis, axillary buds, obtained from growing plants, were used to conduct mitotic study. Results from this study showed chromosome counts of 2n = 48 and 60, thus bringing to light the existence of chromosome number variation and the possibility of polyploidy at different levels in the plant species in this agro-ecological zone. This research has, therefore, established that at least there are two cytotypes in the population of Ocimum basilicum growing in the humid forest vegetation zone of Nigeria. Analysis of the two cytotypes revealed asymmetrical karyotypes, indicative of advancement in the evolutionary trend of the plant species.展开更多
The karyotype of Ardea purpucea and Ardea cinerea, Ciconiifores, are presented in this paper. Chromosome preparations were made from bone marrow cells and stained with Giemsa.The diploid number of chromosome of Ardea ...The karyotype of Ardea purpucea and Ardea cinerea, Ciconiifores, are presented in this paper. Chromosome preparations were made from bone marrow cells and stained with Giemsa.The diploid number of chromosome of Ardea purpucea and Ardea cinerea are 62 ± and 60 ±respectively. The numbers of macrochromosome of these two birds are same, namely 11 pairs. Among them,six pairs of macrochromosome are morphologically very similar between the two birds.展开更多
The Hengduan Mountains region is a biodiversity hotspot. In this study, we report the karyotypes of 19 species(21 populations) of Asteraceae from this region, 14 of which are reported for the first time. We also exami...The Hengduan Mountains region is a biodiversity hotspot. In this study, we report the karyotypes of 19 species(21 populations) of Asteraceae from this region, 14 of which are reported for the first time. We also examined polyploidy in Asteraceae plants and summarized karyotype data in the literature for 69 congeneric taxa. In these genera, there were five different ploidy levels in the region, though the most dominant was diploid(73.08%). There is no direct evidence that ploidy level and karyotype asymmetry are associated with the distribution of recorded Asteraceae species from the Hengduan Mountains. This suggests that polyploidy(26.92%) may not play an important role in the evolutionary history of these plants, even though, among these genera, the ratio of paleopolyploidy was high(46.15%).展开更多
BACKGROUND Confined placental mosaicism(CPM)is one of the major reasons for discrepancies between the results of non-invasive prenatal testing(NIPT)and fetal karyotype analysis.CASE SUMMARY We encountered a primiparou...BACKGROUND Confined placental mosaicism(CPM)is one of the major reasons for discrepancies between the results of non-invasive prenatal testing(NIPT)and fetal karyotype analysis.CASE SUMMARY We encountered a primiparous singleton pregnant woman with a rare CPM consisting of 47,XY,+21;47,XXY;and 46,XY,who obtained a false-positive result on NIPT with a high risk for trisomy 21.Copy-number variation sequencing on amniotic fluid cells,fetal tissue,and placental biopsies showed that the fetal karyotype was 47,XXY,while the placenta was a rare mosaic of 47,XY,+21;47,XXY;and 46,XY.CONCLUSION The patient had a rare CPM consisting of 47,XY,+21;47,XXY;and 46,XY,which caused a discrepancy between the result of NIPT and the actual fetal karyotype.It is important to remember that NIPT is a screening test,not a diagnostic test.Any positive result should be confirmed with invasive testing,and routine ultrasound examination is still necessary after a negative result.展开更多
Background:Thanks to an improved therapeutic regimen in childhood B-cell precursor acute lymphoblastic leukemia(BCP-ALL),5 year-overall survival now exceeds 90%.Unfortunately,the 25%of children who relapse have an ini...Background:Thanks to an improved therapeutic regimen in childhood B-cell precursor acute lymphoblastic leukemia(BCP-ALL),5 year-overall survival now exceeds 90%.Unfortunately,the 25%of children who relapse have an initial poor prognosis,potentially driven by pre-existing or emerging molecular anomalies.The latter are initially and essentially identified by cytogenetics.However,some subtle alterations are not visible through karyotyping.Methods:Single nucleotide polymorphisms(SNP)array is an alternative way of chromosomal analysis allowing for a more in-depth evaluation of chromosomal modifications such as the assessment of copy number alterations(CNA)and loss of heterozygosity(LOH).This method was applied here in retrospective diagnosis/relapse paired samples from seven children with BCP-ALL and in a prospective cohort of 38 newly diagnosed childhood cases.Results:In the matched study,compared to the initial karyotype,SNP array analysis reclassified two patients as poor prognosis cases.Modulation during relapse was seen for 4 CNA and 0.9 LOH.In the prospective study,SNP reclassified the 10 patients with intermediate karyotype as 7 good prognosis and 3 poor prognosis.Ultimately,in all the children tested,SNP array allowed to identify additional anomalies compared to conventional karyotype,refine its prognostic value and identify some druggable anomalies that could be used for precision medicine.Overall,the anomalies detected could be segregated in four groups respectively involved in B-cell development,cell proliferation,transcription and molecular pathways.Conclusion:SNP therefore appears to be a method of choice in the integrated diagnosis of BCP ALL,especially for patients initially classified as intermediate prognosis.This complementary method of both cytogenetics and high throughput sequencing allows to obtain further classified information and can be useful in case of failure of these techniques.展开更多
BACKGROUND The clinical manifestations of trisomy 7 mosaicism are diverse and nonspecific,so prenatal diagnosis is very difficult.CASE SUMMARY Two pregnant women with abnormal prenatal screening results were included....BACKGROUND The clinical manifestations of trisomy 7 mosaicism are diverse and nonspecific,so prenatal diagnosis is very difficult.CASE SUMMARY Two pregnant women with abnormal prenatal screening results were included.One was a 22-year-old woman(G1P0).At 31st week of gestation,ultrasound revealed that the posterior horn of the left lateral ventricle was 10 mm and the right renal pelvis had a separation of 7 mm.The other pregnant woman was 33 years old(G2P1L1A0),and her fetus was found to have a cardiac malformation at the 24th week of gestation.Copy number variation sequencing,whole-exome sequencing and karyotype analysis were carried out after amniocentesis,and both fetuses were diagnosed with trisomy 7 mosaicism.After parental counseling,one woman continued the pregnancy,and the other woman terminated the pregnancy.CONCLUSION In trisomy 7 mosaicism,the low proportion of trisomy does not lead to abortion,but can result in abnormal fetal development,which can be detected via ultrasound.Therefore,clinicians need to pay more attention to various aspects of fetal growth and development,combining with imaging,cellular,molecular genetics and other methods to perform comprehensive evaluations of fetuses to provide more reliable genetic counseling for pregnant women.展开更多
Evidence of whole-genome duplications(WGDs)and subsequent karyotype changes has been detected in most major lineages of living organisms on Earth.To clarify the complex resulting multi-layered patterns of gene colline...Evidence of whole-genome duplications(WGDs)and subsequent karyotype changes has been detected in most major lineages of living organisms on Earth.To clarify the complex resulting multi-layered patterns of gene collinearity in genome analyses,there is a need for convenient and accurate toolkits.To meet this need,we developed WGDI(Whole-Genome Duplication Integrated analysis),a Python-based command-line tool that facilitates comprehensive analysis of recursive polyploidization events and cross-species genome alignments.WGDI supports three main workflows(polyploid inference,hierarchical inference of genomic homology,and ancestral chromosome karyotyping)that can improve the detection of WGD and characterization of WGD-related events based on high-quality chromosome-level genomes.Significantly,it can extract complete synteny blocks and facilitate reconstruction of detailed karyotype evolution.This toolkit is freely available at GitHub(https://github.com/SunPengChuan/wgdi).As an example of its application,WGDI convincingly clarified karyotype evolution in Aquilegia coerulea and Vitis vinifera following WGDs and rejected the hypothesis that Aquilegia contributed as a parental lineage to the allopolyploid origin of core dicots.展开更多
For studying species origin, systematic evolution and phylogenetic relationship of Gazania rigens, four different G. rigens varieties, with different flower colors, were subjected to chromosome karyotype analysis. The...For studying species origin, systematic evolution and phylogenetic relationship of Gazania rigens, four different G. rigens varieties, with different flower colors, were subjected to chromosome karyotype analysis. The somatic chromosome number in three varieties ‘Hongwen', ‘Xingbai'and ‘Richu' was 2n = 10, while in ‘Zhongguo Xunzhangju' it was 2n = 20. We speculate that the cardinal number of chromosomes in G. rigens plants is x = 5, in which case ‘Zhongguo Xunzhangju' is a tetraploid. The karyotype formulae of ‘Hongwen', ‘Xingbai' and ‘Richu' were 2n = 8m + 2sm,2n = 8m + 2sm and 2n = 10 m respectively. The karyotype formula of ‘Zhongguo Xunzhangju' was 2n = 18 m + 2sm. The asymmetrical karyotype coefficients of the four G. rigens varieties ranged from 53.80% to 58.84%. Only ‘Richu' had a ‘1A' karyotype, while the others were relatively symmetric ‘2A'. Karyotype analysis indicates that the three introduced varieties have a close genetic relationship.展开更多
Combining morphological comparison with karyotyping can make a more accurate and comprehensive study of mandarin fish(Siniperca spp.)and hybrid progenies.In recent years,the domestication of hybrid mandarin fish has b...Combining morphological comparison with karyotyping can make a more accurate and comprehensive study of mandarin fish(Siniperca spp.)and hybrid progenies.In recent years,the domestication of hybrid mandarin fish has become a hot spot in China,and it is essential to evaluate the nutritional value of the fish after food conversion.In this study,the F1 hybrid(S.chuatsi♀×S.scherzeri♂)were fed with artificial feed for five months.Afterwards,we studied the morphology,karyotypes,and biochemical composition of muscle in the F1 hybrid and its parents.The morphological results showed that total length and body height of the F1 hybrid appear to derive more from S.chuatsi than S.scherzeri.The DNA ploidy and karyotype results indicated that the F1 hybrid have a diploid chromosome number(2n=48)and the same karyotypes(2n=4sm+14th+30t,NF=52)with its parents,suggesting that the chromosome of the mandarin fish has convergence in the process of evolution.The results of biochemical composition of muscle showed that there were no significant difference in other nutritional indicators(P>0.05),except the Gly(glycine)content of the F1 hybrid was significantly higher than that of S.chuatsi(P<0.05)under the experimental feeding regime,suggesting that the nutritional value of the F1 hybrid with artificial feeding culture is also higher.The study is expected to provide a reference for further research on the domestication,classification,chromosomes,and nutritional requirements of mandarin fish.展开更多
The karyotypes of three shrew species(Mammalia,Soricomorpha,Soricidae)from Nepal were examined for the first time.Based on the karyotypes and overall differences in skull size,the current Episoriculus caudatus appeare...The karyotypes of three shrew species(Mammalia,Soricomorpha,Soricidae)from Nepal were examined for the first time.Based on the karyotypes and overall differences in skull size,the current Episoriculus caudatus appeared to include two distinct species:the larger E.caudatus and the smaller Episoriculus sacratus.Episoriculus sacratus has three subspecies,E.s.soluensis in Nepal and Sikkim,E.s.umbrinus in Assam,Myanmar and the Yunnan Province of China,and E.s.sacratus in the Sichuan Province of China.Soriculus nigrescens had a diploid chromosome number(2n)and fundamental number(FN),including two X chromosomes,of 64 and 92,respectively,consisting of 11 metacentric or submetacentric,two subtelocentric and 18 acrocentric pairs of autosomes,a metacentric X and an acrocentric Y chromosome.Episoriculus sacratus soluensis had 2n=74 and FN=126,consisting of 12 metacentric or submetacentric,13 subtelocentric and 11 acrocentric pairs of autosomes,a submetacentric X and an acrocentric Y chromosome.Episoriculus caudatus had 2n=60 and FN=118,consisting of 19 metacentric or submetacentric,nine subtelocentric and one acrocentric pair of autosomes,a subtelocentric X and an acrocentric Y chromosome.The karyotypes of these three species are characterized by their large 2n and FN values compared with other Soricidae.展开更多
The karyotype analysis and physical locations of 45S rDNA were carried out by means of fluorescence in situ hybridization in three species,and two forms of Sophora,two species of Robina,and one species of Amorpha.S.ja...The karyotype analysis and physical locations of 45S rDNA were carried out by means of fluorescence in situ hybridization in three species,and two forms of Sophora,two species of Robina,and one species of Amorpha.S.japonica L.,S.japonica L.f.oligophylla Franch.,S.japonica L.f.pendula Loud.,and S.xanthantha C.Y.Ma.are all tetraploids with 2n=28.There were four 45S rDNA sites in pericentromeric regions of two pairs of chromosomes in each of them.S.rubriflora Tsoong.is a triploid with 2n=21,and three sites were located in each satellite of group 5 chromosomes.In R.pseudoacacia L.(2n=2x=22),we examined four intensive signals in te-lomeric regions of two pairs of satellite chromosomes.In R.hispida L.(2n=2x=30),there were four other signals in centromeric regions besides those like in R.pseudoacacia.Amorpha fruticosa L.has most chromosomes(2n=40)among the eight materials,however,there were only six 45S rDNA loci and they laid in centromeric regions,and satellites of three pairs of chromosomes.45S rDNA is a valuable chromosomal landmark in karyotype analysis.The distribution and genomic organization of rDNA in the three genera were also discussed.展开更多
T-lymphoblastic lymphoma(T-LBL)is a rare and aggressive form of non-Hodgkin’s lymphoma and little is known about their molecular background.However,complex karyotypes were already related to this group of malignancy ...T-lymphoblastic lymphoma(T-LBL)is a rare and aggressive form of non-Hodgkin’s lymphoma and little is known about their molecular background.However,complex karyotypes were already related to this group of malignancy and associated with poor outcome.Here,we describe a 17-year-old female being diagnosed with T-LBL and a normal karyotype after standard G-banding with trypsin-Giemsa(GTG)-banding.However,further analyses including high-resolution molecular approaches,array-comparative genomic hybridization(aCGH),multiplex ligation-dependent probe amplification,fluorescence in situ hybridization and multicolor chromosome banding revealed a cryptic complex karyotype,NUP214-ABL1 gene fusion,episomes and intra-tumor genetic heterogeneity.In addition,homozygous loss of CDKN2A,as well as amplification of oncogene TLX1(HOX11)were detected.Actually,NUP214-ABL1 fusion gene replicated autonomously in this case as episomes.Overall,highly amplification of NUP214-ABL1 fusion gene defines possibly a new subgroup of T-LBL patients which accordingly could benefit from treatment with tyrosine kinase inhibitors.As episomes are missed in standard karyotyping aCGH should be performed routinely in T-LBL to possibly detect more of such cases.展开更多
The order Gobiiformes is made up of more than 2200 species,representing one of the most diverse groups among teleost fishes.The biological causes for the tachytelic karyotype evolution of the gobies have not yet been ...The order Gobiiformes is made up of more than 2200 species,representing one of the most diverse groups among teleost fishes.The biological causes for the tachytelic karyotype evolution of the gobies have not yet been fully studied.Here we expanded cytogenetic data for the Eleotridae family,analyzing the neotropical species Dormitator maculatus,Eleotris pisonis,Erotelis smaragdus,and Guavina guavina.In addition,a meta-analytical approach was followed for elucidating the karyotype diversification versus biological aspects(habitat and egg type)of the Gobiiformes.The species E.smaragdus and E.pisonis present 2n=46 acrocentric chromosomes(NF=46),D.maculatus 2n=46(36sm+4st+6a;NF=86),and G.guavina,the most divergent karyotype,with 2n=52 acrocentric chromosomes(NF=52).Besides numeric and structural diversification in the karyotypes,the mapping of rDNAs and microsatellites also showed noticeable numerical and positional variation,supporting the high chromosomal evolutionary dynamism of these species.In Gobiiformes,karyotype patterns which are more divergent from the basal karyotype(2n=46a)are associated with characteristics less effective to dispersion,such as the benthic habit.These adaptive characteristics,connected with the organization of the repetitive DNA content in the chromosomes,likely play a synergistic role in the remarkable karyotype diversification of this group.展开更多
Objective To explore the cytogenetic and prognostic significance of monosomal karyotype(MK)in adult patients with acute myeloid leukemia(AML).Methods From September 2002 to Nevember 2014 in Blood Diseases Hospital,Chi...Objective To explore the cytogenetic and prognostic significance of monosomal karyotype(MK)in adult patients with acute myeloid leukemia(AML).Methods From September 2002 to Nevember 2014 in Blood Diseases Hospital,Chinese Academy of Medical Sciences,97Cases with AML were enrolled,including 96 cases展开更多
文摘Karyotype prescription is based on clinical signs (or reasons for karyotype prescription) which are phenotypic manifestations associated with chromosomal abnormalities. The aim of this study was to establish a correspondence between karyotype indications and their results in patients. This was a retrospective study that was carried out in the Histology-Embryology-Cytogenetics laboratory of the University Hospital of Cocody-Abidjan from 2014 to 2019. 58 patient files were identified and included the indication or reason for prescribing a constitutional karyotype and the biological result obtained. An individual data sheet was used to collect the data. 17 reasons for prescription were identified and divided into 2 groups. Sexual ambiguity was the most frequent reason (29.3%). The first group (G1) represented the 10 reasons for which the karyotype results were normal. The second group (G2) corresponded of the 7 motives with normal or abnormal karyotype results. Several anomalies were listed according to these reasons: inversions, mosaics (anomalies of number and structure) and trisomy 21. The last was the most frequent chromosomal anomaly (69.24%). It was found in several reasons for karyotype prescription: malformations, neurological disorders, suspected trisomy and cardiac pathology. Several factors could explain these results, among which are the limits of the karyotype and the non-genetic causes that can induce these abnormal phenotypes. Complementary examinations to the karyotype are molecular cytogenetic techniques, notably fluorescence in situ hybridization (FISH) and array comparative genomic hybridization (Array-CGH).
基金supported by the National Natural Science Foundation of Qinghai Province (2015-ZJ-903)the National Natural Science Foundation of China (31072075)
文摘The karyotypes of 27 individuals of Elymus nutans from eight wild populations in the Qinghai Plateau were analyzed using sequential FISH and GISH. High FISH pattern polymorphism and karyotype variation were detected within and among populations. The chromosome variations were mainly characterized as repeat deletions and amplifications along with inter-genomic translocations. The chromosomes of the St and Y genomes demonstrated higher polymorphism than those of the H genome. Six different intergenomic translocations were identified in 33.3% of individuals; type Ⅰ and Ⅱ translocations were detected with higher frequency. Further analysis revealed that type Ⅰ and Ⅱ translocations were distributed in different geographic regions. The origin of high karyotype variation of E. nutans in the Qinghai plateau is further discussed.
文摘The karyotypes of three species of marine Veneroida molluscs, Solen grandis Dunker, Saxidomus purpuratus Sowerby and Mactra chinensis Philippi were studied by using the adult gill tissues. The chromosomes were prepared through injecting phytohemagglutinin (PHA) and colchicine, hypotonic treatment, chopping air-dry, and squashing technology. The results show that the diploid chromosome numbers of the three Veneroida species are the same as 2n=38. The karyotype of Solen grandis is 26m+6sm+2st+4t, NF=70, the karyotype of Saxidomus purpuratus is 32m+2sm+4st/t, NF=72, and the karyotype of Mactra chinensis is 20m+16sm+2st/t, NF=74. Satellite and sex chromosome were not found among the chromosomes of three species.
文摘This paper reported karyotypes of the Hobby and Kestrel collected from the suburb of Qiqihaer City.These karyotypes were compared and analyzed, on the basis of tile study of karyotypes of nine birds species in Falconiformes by Bfan Xiaozhuang and Li Qingwei. It was considered that differences in habits of birds and ecological environment not only cause fslcons to differ from others, but also differences in a genus, even within a species. This difference may result from fusion of microchromosomes.
文摘The chromosomal number variations & structural aberrations of the MDCK cell line, primary feline or canine kidney cell(FKC or CKC) and Hela cell line were investigated and their karyotypes of conventional chromosome bands were analyzed. The carcinogenesis or tumorigenicity testing of these cell lines in about 232 nude mice and for colony formation in soft agarose and for haemagglutination under different concentration of plant lectins of these cells were carried out. Under the prerequisite that the incidence of cancer or tumor in negative-control nude mice inoculated subcutaneously with primary feline or canine kidney cell cultures purified in vitro at passage 3 was 0 (0/22) and 0 (0/10), respectively. The incidence of the progressively-growing malignant tumor(MT) in positive-control nude mice inoculated subcutaneously with Hela cell cultures of KB, X, or NM20/X strain was 10/10, 25/25 and 5/51, respectively. The results showed that the incidence of tumor in nude mice with tetrapioid YA strain of MDCK cell during 20 - 45 passages, with hypodiploid JB strain of MDCK cell on passage 25, with di-and hypoploid JC strain of MDCK cell during 2 - 15passages or with hypoploid M strain of MDCK cell during 9 - 27 passages was 28/58, 1/5, 4/18 and 0/31,respectively. The chromosomal analysis results showed that the ratio of difference in the rate of modal chromosome number between high (mcs + n) and lowest (mcs)passages was not more than 5 % - 15 % and the structure aberrations was generally 0 - 3%. These results proved that the genetic characteristics of chromosomal number of cell lines determines their tumorigenicity, but it is species-specific. MDCK line has tumorigenicity no matter what its chromosome karyotype is, at least it has very low tumorigenicity even when its modal chromosome number is hypoploid. The repeatedly frozen, thawed and split controls of tumorigenicity-positive cell lines(X strain of Hela, M strain of BHK-21, JA strain of Vero, YA strain of MDCK) have much lower tumorigenicity or are even non-carcinogenesis, and the repeatedly frozen, thawed and split controls of very low tumorigenicity cell lines (M or JC strain of MDCK) are certainly non-carcinogenic and never have increased tumorigenicity.It is thus evident that MDCK cell of M, JB or JC strain can be approved as substrate for the preparation of attenuated viral vaccines, but MDCK cell of YA strain can not be approved as substrate for the preparation of comattenuated viral vaccines. In summary, all strains of MDCK cell line have tunorigenicity, at least have low tumorigencity, never have non-cancinogenic MDCK, but very low tumorigenicity MDCK cell strains can certainly be used for the approval production of canine viral vaccines if the DNA content in viral cell cultures was remarkably decreased through conventional means in manufacturing process. Therefore, the master cell stock and working cell bank of MDCK line used for vaccine manufacture were established in China, which are free of infectious agents, and described with respect to cytogenetic characteristics and tumorigenicity. Tests showed that there were correlations among cell line chromosome number variations, anchorage independence in soft agarose, haemagglutination under plant lectins, and tumor-forming ability in nude mice, thus all the in vitro tests are economic, simple and reliable means for monitoring the tumor-forming ability of MDCK line in nude mice.
文摘Ocimum basilicum is widely distributed in the tropical and subtropical regions of the world, with greatest variability in Africa and India. It is valued in many countries for its culinary, medicinal, industrial and religious importance. Although cytogenetic entries on the plant have been made in other geographical locations of the world, in Nigeria, such entries, prior to this report, have been limited if not completely unavailable. In this analysis, axillary buds, obtained from growing plants, were used to conduct mitotic study. Results from this study showed chromosome counts of 2n = 48 and 60, thus bringing to light the existence of chromosome number variation and the possibility of polyploidy at different levels in the plant species in this agro-ecological zone. This research has, therefore, established that at least there are two cytotypes in the population of Ocimum basilicum growing in the humid forest vegetation zone of Nigeria. Analysis of the two cytotypes revealed asymmetrical karyotypes, indicative of advancement in the evolutionary trend of the plant species.
文摘The karyotype of Ardea purpucea and Ardea cinerea, Ciconiifores, are presented in this paper. Chromosome preparations were made from bone marrow cells and stained with Giemsa.The diploid number of chromosome of Ardea purpucea and Ardea cinerea are 62 ± and 60 ±respectively. The numbers of macrochromosome of these two birds are same, namely 11 pairs. Among them,six pairs of macrochromosome are morphologically very similar between the two birds.
基金supported by the National Natural Science Foundation of China (31670206, 31360049) to Zhi-Min Limajor Program of NSFC (grant 31590823, 31590820) to Hang Sun,NSFC (31370004, 31570213) to Jian-Wen Zhang
文摘The Hengduan Mountains region is a biodiversity hotspot. In this study, we report the karyotypes of 19 species(21 populations) of Asteraceae from this region, 14 of which are reported for the first time. We also examined polyploidy in Asteraceae plants and summarized karyotype data in the literature for 69 congeneric taxa. In these genera, there were five different ploidy levels in the region, though the most dominant was diploid(73.08%). There is no direct evidence that ploidy level and karyotype asymmetry are associated with the distribution of recorded Asteraceae species from the Hengduan Mountains. This suggests that polyploidy(26.92%) may not play an important role in the evolutionary history of these plants, even though, among these genera, the ratio of paleopolyploidy was high(46.15%).
基金Supported by the 345 Talent Project of Shengjing Hospital,No.M0298.
文摘BACKGROUND Confined placental mosaicism(CPM)is one of the major reasons for discrepancies between the results of non-invasive prenatal testing(NIPT)and fetal karyotype analysis.CASE SUMMARY We encountered a primiparous singleton pregnant woman with a rare CPM consisting of 47,XY,+21;47,XXY;and 46,XY,who obtained a false-positive result on NIPT with a high risk for trisomy 21.Copy-number variation sequencing on amniotic fluid cells,fetal tissue,and placental biopsies showed that the fetal karyotype was 47,XXY,while the placenta was a rare mosaic of 47,XY,+21;47,XXY;and 46,XY.CONCLUSION The patient had a rare CPM consisting of 47,XY,+21;47,XXY;and 46,XY,which caused a discrepancy between the result of NIPT and the actual fetal karyotype.It is important to remember that NIPT is a screening test,not a diagnostic test.Any positive result should be confirmed with invasive testing,and routine ultrasound examination is still necessary after a negative result.
基金Nantes University Hospital MEFRALL project,Grant/Award Number:RC_0144。
文摘Background:Thanks to an improved therapeutic regimen in childhood B-cell precursor acute lymphoblastic leukemia(BCP-ALL),5 year-overall survival now exceeds 90%.Unfortunately,the 25%of children who relapse have an initial poor prognosis,potentially driven by pre-existing or emerging molecular anomalies.The latter are initially and essentially identified by cytogenetics.However,some subtle alterations are not visible through karyotyping.Methods:Single nucleotide polymorphisms(SNP)array is an alternative way of chromosomal analysis allowing for a more in-depth evaluation of chromosomal modifications such as the assessment of copy number alterations(CNA)and loss of heterozygosity(LOH).This method was applied here in retrospective diagnosis/relapse paired samples from seven children with BCP-ALL and in a prospective cohort of 38 newly diagnosed childhood cases.Results:In the matched study,compared to the initial karyotype,SNP array analysis reclassified two patients as poor prognosis cases.Modulation during relapse was seen for 4 CNA and 0.9 LOH.In the prospective study,SNP reclassified the 10 patients with intermediate karyotype as 7 good prognosis and 3 poor prognosis.Ultimately,in all the children tested,SNP array allowed to identify additional anomalies compared to conventional karyotype,refine its prognostic value and identify some druggable anomalies that could be used for precision medicine.Overall,the anomalies detected could be segregated in four groups respectively involved in B-cell development,cell proliferation,transcription and molecular pathways.Conclusion:SNP therefore appears to be a method of choice in the integrated diagnosis of BCP ALL,especially for patients initially classified as intermediate prognosis.This complementary method of both cytogenetics and high throughput sequencing allows to obtain further classified information and can be useful in case of failure of these techniques.
文摘BACKGROUND The clinical manifestations of trisomy 7 mosaicism are diverse and nonspecific,so prenatal diagnosis is very difficult.CASE SUMMARY Two pregnant women with abnormal prenatal screening results were included.One was a 22-year-old woman(G1P0).At 31st week of gestation,ultrasound revealed that the posterior horn of the left lateral ventricle was 10 mm and the right renal pelvis had a separation of 7 mm.The other pregnant woman was 33 years old(G2P1L1A0),and her fetus was found to have a cardiac malformation at the 24th week of gestation.Copy number variation sequencing,whole-exome sequencing and karyotype analysis were carried out after amniocentesis,and both fetuses were diagnosed with trisomy 7 mosaicism.After parental counseling,one woman continued the pregnancy,and the other woman terminated the pregnancy.CONCLUSION In trisomy 7 mosaicism,the low proportion of trisomy does not lead to abortion,but can result in abnormal fetal development,which can be detected via ultrasound.Therefore,clinicians need to pay more attention to various aspects of fetal growth and development,combining with imaging,cellular,molecular genetics and other methods to perform comprehensive evaluations of fetuses to provide more reliable genetic counseling for pregnant women.
基金This work was supported equally by the Strategic Priority Research Program of the Chinese Academy of Sciences(XDB31000000)the National Natural Science Foundation of China(grant numbers 31590821 and 91731301 to J.L.and 32070669to X.W.)+1 种基金the National Key Research and Development Program of China(2017YFC0505203 to Z.X.)also by the Fundamental Research Funds for the Central Universities(SCU2019D013 and 2020SCUNL207)and theNational High-Level Talents Special Support Plan(10 Thousand People Plan)。
文摘Evidence of whole-genome duplications(WGDs)and subsequent karyotype changes has been detected in most major lineages of living organisms on Earth.To clarify the complex resulting multi-layered patterns of gene collinearity in genome analyses,there is a need for convenient and accurate toolkits.To meet this need,we developed WGDI(Whole-Genome Duplication Integrated analysis),a Python-based command-line tool that facilitates comprehensive analysis of recursive polyploidization events and cross-species genome alignments.WGDI supports three main workflows(polyploid inference,hierarchical inference of genomic homology,and ancestral chromosome karyotyping)that can improve the detection of WGD and characterization of WGD-related events based on high-quality chromosome-level genomes.Significantly,it can extract complete synteny blocks and facilitate reconstruction of detailed karyotype evolution.This toolkit is freely available at GitHub(https://github.com/SunPengChuan/wgdi).As an example of its application,WGDI convincingly clarified karyotype evolution in Aquilegia coerulea and Vitis vinifera following WGDs and rejected the hypothesis that Aquilegia contributed as a parental lineage to the allopolyploid origin of core dicots.
基金financially supported by Project for Suzhou Science and Technology Support Program (Agriculture) (SNG201409)
文摘For studying species origin, systematic evolution and phylogenetic relationship of Gazania rigens, four different G. rigens varieties, with different flower colors, were subjected to chromosome karyotype analysis. The somatic chromosome number in three varieties ‘Hongwen', ‘Xingbai'and ‘Richu' was 2n = 10, while in ‘Zhongguo Xunzhangju' it was 2n = 20. We speculate that the cardinal number of chromosomes in G. rigens plants is x = 5, in which case ‘Zhongguo Xunzhangju' is a tetraploid. The karyotype formulae of ‘Hongwen', ‘Xingbai' and ‘Richu' were 2n = 8m + 2sm,2n = 8m + 2sm and 2n = 10 m respectively. The karyotype formula of ‘Zhongguo Xunzhangju' was 2n = 18 m + 2sm. The asymmetrical karyotype coefficients of the four G. rigens varieties ranged from 53.80% to 58.84%. Only ‘Richu' had a ‘1A' karyotype, while the others were relatively symmetric ‘2A'. Karyotype analysis indicates that the three introduced varieties have a close genetic relationship.
基金This research was supported by grants from the Youth Talent Development Plan of Shanghai Municipal Agricultural System,China(Grant No.20180303)the Shanghai Agriculture Applied Technology Development Program,China(Grant No.Z20170204).
文摘Combining morphological comparison with karyotyping can make a more accurate and comprehensive study of mandarin fish(Siniperca spp.)and hybrid progenies.In recent years,the domestication of hybrid mandarin fish has become a hot spot in China,and it is essential to evaluate the nutritional value of the fish after food conversion.In this study,the F1 hybrid(S.chuatsi♀×S.scherzeri♂)were fed with artificial feed for five months.Afterwards,we studied the morphology,karyotypes,and biochemical composition of muscle in the F1 hybrid and its parents.The morphological results showed that total length and body height of the F1 hybrid appear to derive more from S.chuatsi than S.scherzeri.The DNA ploidy and karyotype results indicated that the F1 hybrid have a diploid chromosome number(2n=48)and the same karyotypes(2n=4sm+14th+30t,NF=52)with its parents,suggesting that the chromosome of the mandarin fish has convergence in the process of evolution.The results of biochemical composition of muscle showed that there were no significant difference in other nutritional indicators(P>0.05),except the Gly(glycine)content of the F1 hybrid was significantly higher than that of S.chuatsi(P<0.05)under the experimental feeding regime,suggesting that the nutritional value of the F1 hybrid with artificial feeding culture is also higher.The study is expected to provide a reference for further research on the domestication,classification,chromosomes,and nutritional requirements of mandarin fish.
文摘The karyotypes of three shrew species(Mammalia,Soricomorpha,Soricidae)from Nepal were examined for the first time.Based on the karyotypes and overall differences in skull size,the current Episoriculus caudatus appeared to include two distinct species:the larger E.caudatus and the smaller Episoriculus sacratus.Episoriculus sacratus has three subspecies,E.s.soluensis in Nepal and Sikkim,E.s.umbrinus in Assam,Myanmar and the Yunnan Province of China,and E.s.sacratus in the Sichuan Province of China.Soriculus nigrescens had a diploid chromosome number(2n)and fundamental number(FN),including two X chromosomes,of 64 and 92,respectively,consisting of 11 metacentric or submetacentric,two subtelocentric and 18 acrocentric pairs of autosomes,a metacentric X and an acrocentric Y chromosome.Episoriculus sacratus soluensis had 2n=74 and FN=126,consisting of 12 metacentric or submetacentric,13 subtelocentric and 11 acrocentric pairs of autosomes,a submetacentric X and an acrocentric Y chromosome.Episoriculus caudatus had 2n=60 and FN=118,consisting of 19 metacentric or submetacentric,nine subtelocentric and one acrocentric pair of autosomes,a subtelocentric X and an acrocentric Y chromosome.The karyotypes of these three species are characterized by their large 2n and FN values compared with other Soricidae.
文摘The karyotype analysis and physical locations of 45S rDNA were carried out by means of fluorescence in situ hybridization in three species,and two forms of Sophora,two species of Robina,and one species of Amorpha.S.japonica L.,S.japonica L.f.oligophylla Franch.,S.japonica L.f.pendula Loud.,and S.xanthantha C.Y.Ma.are all tetraploids with 2n=28.There were four 45S rDNA sites in pericentromeric regions of two pairs of chromosomes in each of them.S.rubriflora Tsoong.is a triploid with 2n=21,and three sites were located in each satellite of group 5 chromosomes.In R.pseudoacacia L.(2n=2x=22),we examined four intensive signals in te-lomeric regions of two pairs of satellite chromosomes.In R.hispida L.(2n=2x=30),there were four other signals in centromeric regions besides those like in R.pseudoacacia.Amorpha fruticosa L.has most chromosomes(2n=40)among the eight materials,however,there were only six 45S rDNA loci and they laid in centromeric regions,and satellites of three pairs of chromosomes.45S rDNA is a valuable chromosomal landmark in karyotype analysis.The distribution and genomic organization of rDNA in the three genera were also discussed.
文摘T-lymphoblastic lymphoma(T-LBL)is a rare and aggressive form of non-Hodgkin’s lymphoma and little is known about their molecular background.However,complex karyotypes were already related to this group of malignancy and associated with poor outcome.Here,we describe a 17-year-old female being diagnosed with T-LBL and a normal karyotype after standard G-banding with trypsin-Giemsa(GTG)-banding.However,further analyses including high-resolution molecular approaches,array-comparative genomic hybridization(aCGH),multiplex ligation-dependent probe amplification,fluorescence in situ hybridization and multicolor chromosome banding revealed a cryptic complex karyotype,NUP214-ABL1 gene fusion,episomes and intra-tumor genetic heterogeneity.In addition,homozygous loss of CDKN2A,as well as amplification of oncogene TLX1(HOX11)were detected.Actually,NUP214-ABL1 fusion gene replicated autonomously in this case as episomes.Overall,highly amplification of NUP214-ABL1 fusion gene defines possibly a new subgroup of T-LBL patients which accordingly could benefit from treatment with tyrosine kinase inhibitors.As episomes are missed in standard karyotyping aCGH should be performed routinely in T-LBL to possibly detect more of such cases.
基金The authors thank to the ICMBio/SISBIO(#19135-4)for the authorization in collecting specimens.We are also grateful to Dr.JoséGarcia Júnior for the taxonomic identification of specimens utilized in the study.This work was supported by the Conselho Nacional de Desenvolvimento Cient.ico e Tecnol.gico(CNPq)[#442664/2015-0,#442626/2019-3].
文摘The order Gobiiformes is made up of more than 2200 species,representing one of the most diverse groups among teleost fishes.The biological causes for the tachytelic karyotype evolution of the gobies have not yet been fully studied.Here we expanded cytogenetic data for the Eleotridae family,analyzing the neotropical species Dormitator maculatus,Eleotris pisonis,Erotelis smaragdus,and Guavina guavina.In addition,a meta-analytical approach was followed for elucidating the karyotype diversification versus biological aspects(habitat and egg type)of the Gobiiformes.The species E.smaragdus and E.pisonis present 2n=46 acrocentric chromosomes(NF=46),D.maculatus 2n=46(36sm+4st+6a;NF=86),and G.guavina,the most divergent karyotype,with 2n=52 acrocentric chromosomes(NF=52).Besides numeric and structural diversification in the karyotypes,the mapping of rDNAs and microsatellites also showed noticeable numerical and positional variation,supporting the high chromosomal evolutionary dynamism of these species.In Gobiiformes,karyotype patterns which are more divergent from the basal karyotype(2n=46a)are associated with characteristics less effective to dispersion,such as the benthic habit.These adaptive characteristics,connected with the organization of the repetitive DNA content in the chromosomes,likely play a synergistic role in the remarkable karyotype diversification of this group.
文摘Objective To explore the cytogenetic and prognostic significance of monosomal karyotype(MK)in adult patients with acute myeloid leukemia(AML).Methods From September 2002 to Nevember 2014 in Blood Diseases Hospital,Chinese Academy of Medical Sciences,97Cases with AML were enrolled,including 96 cases
