广州汉族群体DYS391基因座多态性分析

目的探讨Y—STR基因座DYS391的多态性及其法医学应用价值。方法用荧光标记引物、变性PAGE、激光自动扫描检测PCR扩增产物的方法,调查广州地区111例汉族无关男性个体DYS391等位基因分布状况;对该位点的种属特异性、突变率及其在混合斑个体识别中的价值等与法医学应用有关的问题进行了研究。结果DYS391基因座共检出3个等位基因,人类特异性较高,未发现突变。结论Y—SIR基因座DYS391的基因检测在法医物证学中的应用价值大,尤其是在父权鉴定及混合斑的个体识别中具有其它方法不具备的优越性。     

DYS391、DYS393基因座X染色体扩增对法医鉴定影响的探讨

目的探讨提高DYS391和DYS393基因座特异性扩增方法及两基因座的X染色体扩增产物对法医学鉴定结论的影响。方法DYS391和DYS393基因座采用PCR扩增、聚丙烯酰胺凝胶电泳结合银染进行分析。结果稀释模板DNA浓度和提高退火温度对提高此两Y染色体基因座特异性扩增并不明显。DYS391和DYS393的X染色体扩增产物对法医学鉴定结论有误导可能性。结论在法医学鉴定尤其是性别鉴定中应谨慎应用DYS391和DYS393基因座。     

用复合扩增方法检测4个Y-STR基因座单倍型

目的建立复合扩增Y-STR基因座的体系,获得中国汉族人的单倍型频率。方法复合扩增DYS439、DYS390、GATA-A7.2和DYS3934个基因座,用聚丙烯酰胺凝胶电泳和银染法进行基因分型。结果调查中国汉族558名无关男性个体,4个基因座分别检出7、7、7和6个等位基因,共180种单倍型,其单倍型的个体识别率为0.9853。结论该复合扩增体系在建立Y染色体STR数据库、在群体遗传研究和法医学鉴定中有应用意义。     

3个Y-STR的复合扩增及其单倍型

目的 建立复合扩增Y-STR基因座的体系,获得广东汉族人的单倍型频率。方法 复合扩增DYS439、DYS437和DYS434三个基因座,用聚丙烯酰胺凝胶电泳银染法进行基因分型,检测广东汉族327名无关男性个体的单倍型。结果 3个基因座分别检出6个、4个和4个等位基因,共38种单倍型,其单倍型的个体识别率为0.8796。结论 Y-STR基因座复合扩增体系和建立的Y染色体STR数据库,在法医学鉴定中有应用意义。     

太原地区汉族人群DYS390、DYS391、DYS393基因座多态性

Y 染色体STR基因座在不同人群的差异性远高于常染色体基因座[1] 。因此 ,为了获得鉴定能力高的检测系统 ,要尽可能多的分析多个STR基因座。本文作者采用复合扩增结合银染技术 ,对太原地区汉族男性人群DYS390、DYS391、DYS393基因座进行单个基因座等位基因频率和单倍型分布频率调查 ,旨在为遗传学、法医学及其他相关研究提供基础资料。1　材料与方法1 1　样本16 3例无血缘关系汉族男性个体的枸橼酸钠抗凝血 (山西医科大学第一医院提供 ) ;10例两代家系血(本室亲子鉴定案例 ) ;1例健康男性个体的肾脏、肝脏、脾脏、血液 (本院病理室提…     

29个Y-STR基因座复合扩增体系的建立CSCD

目的建立29个Y-STR基因座的复合扩增体系,进行遗传多态性调查,并评价其法医学应用价值。方法采用五色荧光标记技术,对29个Y-STR基因座（DYS456、DYS389Ⅰ、DYS437、DYS447、DYS389Ⅱ、DYS438、DYS522、DYS460、DYS458、DYS622、DYS390、DYS392、DYS448、DYS449、DYS391、Y-GATA-H4、DYS388、DYS19、DYS385a/b、DYS527a/b、DYS393、DYS459a/b、DYS635、DYS439、DYS570和DYS627）进行复合扩增和毛细管电泳检测。调查山东汉族2 000名无关男性个体29个Y-STR基因座的遗传多态性数据,并对系统性能进行检测。结果本方法同时检测29个Y-STR基因座,在2 000名个体中共检出1 981种单倍型,基因多样性在0.370 0～0.965 4。方法特异性好,分型结果准确稳定,灵敏度达0.05 ng,实际案例常见生物检材的检验结果良好。结论 29个Y-STR基因座复合扩增检测法可以用于实际案例检验,调查所获数据对建立Y-STR数据库的相关研究和应用具有重要意义。     

4个Y-STR基因座遗传多态性及分子克隆技术制备分型标准物

目的研究Y染色体4个新发现的STR基因座在成都汉族群体中的遗传多态性,寻找适合于法医学应用的Y-STR基因座并用分子克隆法制备其等位基因分型标准物。方法用PCR扩增和非变性聚丙烯酰胺凝胶电泳技术,对105名成都地区汉族无血缘关系男性个体的4个Y-STR基因座进行分型。并通过分子克隆技术制备DYS643基因座的等位基因分型标准物。结果DYS632、DYS634、DYS642和DYS643四个STR基因座均具有Y染色体特异性,在成都汉族群体中等位基因个数分别为2、4、3和5,共检测出31种单倍型;DYS643基因座的等位基因分型标准物可以用于群体研究。结论DYS643基因座及其分子克隆法制备的等位基因分型标准物具有较高的法医学应用价值。     

武汉汉族群体3个多拷贝Y-STR基因座的遗传多态性

目的提供DYS385、DYS459和DYS464基因座的群体遗传学资料。方法用荧光标记引物及ABI 3100型基因分析仪对武汉地区176名汉族男性无关个体的DYS385、DYS459和DYS464 3个多拷贝Y-STR基因座进行分型。结果在DYS385和DYS459基因座的个体,可观察到1~2个不同长度的扩增产物;DYS464基因座个体,可观察到1~4个不同长度的扩增产物。DYS385基因座检出14个等位基因及47种单倍型,DYS459检出4个等位基因及7种单倍型,DYS464检出9个等位基因及51种单倍型,其单倍型多样性分别为0.9591、0.6047和0.9560。3个基因座构成的联合单倍型共有133种,其多样性值达0.9909。结论3个多拷贝Y-STR基因座均为高多态性的遗传标记,联合应用具有较高的个体分辨能力。     

藏族群体7个Y-STR基因座及单倍型的遗传多态性

目的调查藏族Y染色体7个STR基因座及单倍型的遗传多态性。方法应用PCR、变性聚丙烯酰胺凝胶电泳结合银染显色分型技术,检测67例藏族男性DNA样品。结果在DYS393、DYS389Ⅰ、DYS19、DYS390、DYS389Ⅱ、DYS392等6个基因座中共检出25个等位基因,DYS385基因座检出22个等位基因组,频率分布在0.0149～0.5075之间,各基因座DP值分布在0.5075～0.8991之间,以DYS385基因座最高。由7个基因座组成的YH6系统单倍型有51种,DP值为0.9887,DYS393与DYS389Ⅱ基因座等位基因少,推测藏族群体在进化过程中可能发生过瓶颈事件。结论上述7个STR基因座属于高鉴别能力基因座,单倍型具有很高的遗传多态性。     

中国成都汉族群体三个Y-STR基因座复合扩增及其单倍型的研究

目的建立一种同步检测Y-STR基因座的方法。方法采用复合扩增的方法同时对三个基因座(DYS390、DYS391及DYS393)进行扩增。结果成功地对这三个Y-STR基因座进行了同步扩增,并用其对中国成都汉族群体进行群体遗传学研究。结论三个Y-STR基因座在中国成都汉族群体个人识别几率为0.8965±0.0081,证明这个体系可用于个人识别和群体遗传学研究。     

Y-STR polymorphism in Central Anatolian Region of Turkey

Eight Y-chromosome specific STR (Y-STR) loci including DYS19, DYS388, DYS389I, DYS389II, DYS390, DYS391, DYS392 and DYS393 were investigated in a group of males from Central Anatolian Region of Turkey. Healthy 59 males living in this region for at least three generations were included in the study. PCR analysis was carried out with Y-STR specific primers on genomic DNA obtained from peripheral blood samples and size determination of PCR products was performed by silver staining following 6% polyacrylamide gel electrophoresis (PAGE). DYS388 was found to be the locus with lowest diversity (D) whereas DYS389II was the locus with highest diversity. The current study presented a framework of variation for the eight Y-STR loci in Central Anatolian population.     

Y-STR haplotype data and allele frequency of the DXS10011 locus in a Japanese population sample

The distribution of allele frequency of X-chromosomal STR, DXS10011, from 99 unrelated Japanese, 72 male and 27 female, were determined by PCR amplification and PAGE. At the same time, haplotype frequencies of five Y-chromosomal STR loci, DYS19, DYS389I, DYS389II, DYS390 and DYS393 from male samples were determined.     

Y chromosome STR haplotypes in three UK populations

Eleven Y chromosome short tandem repeat markers: DYS19, DYS385, DYS389I, DYS389II, DYS390, DYS391, DYS392, DYS393, DYS437, DYS438 and DYS439, have been typed in the three main UK population groups: Caucasians, Afro-Caribbeans and South Asians. Existing PCR reactions were adapted to incorporate DYS437, DYS438 and DYS439. The observed 11 loci haplotypes and the individual allele frequencies for each locus are presented. Distinct differences for most markers were observed between the population groups studied.     

Haplotype frequencies of 16 Y-chromosome STR loci in the Barcelona metropolitan area population using Y-Filer kit

Haplotype frequencies for 16 Y-chromosomal short tandem repeat (STR) loci, included in the Y-Filer kit, were determined in 247 unrelated healthy individuals from the Barcelona metropolitan area (Catalonia, NE Spain). After PCR amplification and denaturing PAGE electrophoresis, DYS456, DYS389I, DYS390, DYS389II, DYS458, DYS19, DYS385a/b, DYS393, DYS391, DYS439, DYS635, DYS392, Y GATA H4.1, DYS437, DYS438 and DYS448 loci were typed. The aim of this study is to evaluate the performance in our population of the 16 loci of the Y-chromosome present in the new Y-Filer commercial identification kit, and acquire haplotype frequencies for mathematic processing of the forensic diagnosis in our geographical working area. In this sample, all haplotypes were unique. From the forensic point of view, the combined polymorphisms of the Y-Filer kit provide a high diagnostic efficiency.     

Haplotypes for 13 Y-chromosomal STR loci in South Tunisian population (Sfax region)

Nine Y-STR loci from the "minimal haplotype" (DYS19, DYS385a/b, DYS389I, DYS389II, DYS390, DYS391, DYS392, DYS393) included in Y-STR Haplotype Reference Databases (YHRD) with 4 additional Y-STRs (DYS436, DYS437, DYS438, DYS439) were analyzed by PCR using duplex and Y-PLEX 12 kit, followed by automatic genotyping in a sample of 105 Tunisian males originating from Sfax region (south Tunisia). Allelic frequencies and gene diversities for each Y-STR locus were determined. The high haplotype diversity (0.9932) and discrimination capacity (0.7714) show the usefulness of these loci for human identification in forensic studies and paternity tests in Tunisia. The most common haplotype was shared by 4.7% (5 individuals) of the sample was only found in samples from the Tunisian population reported in YHRD. One private allele for DYS392 (allele 17) was discovered and duplications were observed for five loci (DYS19, DYS389I, DYS393, DYS437 and DYS439).     

Y-STR haplotypes in Central Anatolia region of Turkey

Allele frequencies and haplotypes of the 11 Y-chromosome STRs loci, namely DYS19, DYS385a/b, DYS389I/II, DYS390, DYS391, DYS392, DYS393, DYS438, and DYS439 were determined in a sample of 113 unrelated males from the Central Anatolia region of Turkey. In the 113 samples 106 different haplotypes were encountered, of which 100 were observed only once. The overall haplotype diversity was 0.9987. In the study, a duplication at locus DYS19 and locus DYS393 was observed. The results demonstrate that these loci will be very useful for human identification in forensic cases and paternity tests in the Central Anatolia region.     

Nine-locus Y-chromosome STR profiling of Caucasian and Xhosa populations from Cape Town, South Africa

Y-chromosome STR markers are not widely used in forensic case work in South Africa. To begin assessing the forensic value of these markers in South Africa, samples were collected from 100 English-speaking Caucasian males and 99 Xhosa males, living in the Cape Town metropolitan area. Allele and haplotype frequencies were determined for nine Y-chromosome STR loci (DYS19, DYS389-I, DYS389-II, DYS390, DYS391, DYS392, DYS393, and the duplicated locus DYS385). Unique haplotypes were obtained for 47 Xhosa males and 66 Caucasians.     

Genetic analysis of 17 Y-chromosomal STRs haplotypes of Chinese Tibetan ethnic group residing in Qinghai province of China

We have co-amplified and analyzed 17 Y-chromosomal STRs loci including European 'extended haplotypes' (DYS19, DYS389 I, DYS389 II, DYS390, DYS391, DYS392, DYS393, DYS385a,b, DYS438, and DYS439) and also six additional loci DYS437, DYS448, DYS456, DYS458, DYS635 and YGATA H4 in a population sample of 167 healthy unrelated autochthonous male individuals of Chinese Tibetan ethnic minority group residing in Qinghai province of China using a multiplex PCR system. The gene diversity values for the Y-STRs loci ranged from a minimum 0.3581 for DYS391 locus to a maximum of 0.8702 for DYS385a,b loci in Tibetan population. A total of 163 haplotypes were identified in the set of Y-STR loci, of which 159 were unique and 4 found in two individuals. The overall haplotype diversity for the set of Y-STRs loci was 0.9998, and the discrimination capacity was 0.9938. Research results will be valuable for human identification and paternity tests in the region and for Chinese population genetic study in the future.