甘肃东乡族男性24个Y-STR基因座遗传多态性(英文)

目的检测24个Y-STR基因座单倍型的遗传多态性,探讨其法医物证学应用价值。方法应用AGCU Y24试剂盒和3130xl型遗传分析仪对154例甘肃东乡族男性无关个体的24个Y-STR基因座(DYS391、DYS389Ⅰ、DYS439、DYS389Ⅱ、DYS438、DYS643、DYS456、DYS458、DYS437、DYS635、DYS448、DYS527a/b、Y-GATA-H4、DYS447、DYS19、DYS392、DYS522、DYS393、DYS388、DYS390、DYS385a/b、DYS444)进行检测,获得其基因型分布情况。结果 154例样本中共检出153种单倍型,单倍型多样性为0.991 5和个体识别率为0.994 0。结论 24个Y-STR复合扩增体系具有较高单倍型遗传多态性和个体识别率。     

Population data for Y-chromosome haplotypes defined by 17 STRs (AmpFlSTR YFiler) in Central Portugal

The 17 Y-chromosome STR loci (DYS19, DYS389I, DYS389II, DYS390, DYS456, DYS391, DYS392, DYS393 and DYS385 a/b, DYS458, DYS439, DYS635, GATA H4.1, DYS437, DYS438 and DYS448) were determined for 100 unrelated males, living in Central Portugal, using the AmpFlSTR YFiler PCR Amplification kit (Applied Biosystems).A total of 99 different haplotypes were found, with only two individuals sharing the same haplotype. The overall haplotype diversity (HD) was determined as 0.9998, a value similar to other Y Filer data sets.Y-STR polymorphisms in Central Portugal population, using YFiler, provide a powerful discrimination tool for routine forensic applications.     

24个Y-STR基因座在云南苗族人群中的序列多态性

目的研究法医学常用Y-STR基因座在中国云南苗族男性个体中的序列多态性。方法采用M48磁珠提取纯化试剂盒提取样本DNA,使用ForenSeqTM DNA Signature Prep试剂盒制备文库,Miseq FGx平台进行测序,ForenSeq Universal Analysis v1.2.1软件进行数据分析,用Arlequin v3.5软件计算各Y-STR基因座相关的统计学参数,将Y-STR基因座长度多态性与序列多态性进行比较。结果108名云南苗族个体中共检出106种单倍型,总体单倍型多样性(HD)和Y-STR分型系统的分辨能力(DC)分别为0.9993和0.9815。24个Y-STR基因座共检出204个基因,基因多样性(gene diversity,GD)值为0.2177~0.9481,15个Y-STR基因座的GD值大于0.6。DYF387S1、DYS390、DYS389II、DYS437、DYS438、DYS448、DYS612基因座存在长度相同的基因核心序列不同的情况。结论该24个Y-STR基因座在云南苗族男性人群中具有丰富的遗传多态性。研究结果可为Y-STR数据库的建立、群体遗传学和法医学实践提供参考。     

复合扩增20个Y-STR基因座及其法医学的应用

目的建立20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。方法采用五色荧光素标记技术,对20个Y-STR基因座(DYS391、DYS389Ⅰ、DYS390、DYS389Ⅱ、DYS438、DYS460、Y GATA H4、DYS456、DYS439、DYS635、DYS448、DYS393、DYS388、DYS437、DYS19、DYS392、DYS458、DYS447、DYS385 a/b)进行复合扩增和毛细管电泳检测;调查辽宁汉族376名无关男性个体20个Y-STR基因座的遗传多态性数据;并对系统性能进行检测。结果本文方法同时检测20个Y-STR基因座,在376名个体中共检出376种单倍型,基因多样性在0.371 1～0.969 8之间;方法特异性好,分型结果准确稳定,灵敏度达0.062 5ng,实际案例常见生物检材的检验结果良好。结论20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数据库和相关研究和应用具有重要意义。     

Analysis of 16 Y-chromosomal STRs in an African descent sample population of Chocó (Colombia)

We studied and established a database and some parameters of forensic importance were calculated of 16 Y-STR (DYS19, DYS385, DYS389I/II, DYS390, DYS391, DYS392, DYS393, DYS437, DYS438, DYS439, DYS460, DYS461, GATA-A10, GATA-H4 and DYS635) in a population of 298 unrelated males of African descent of Chocó (Colombia) and a total of 257 haplotypes were identified using the present set of Y-STR markers, of which 224 were represented only once in the database. Twenty-six haplotypes were presents two times, six haplotypes were presents in three individuals and one haplotype in four men. The haplotype diversity was 0.9987 ± 0.0004. By combining the allelic states of the 16 Y-chromosomal STRs we could construct highly informative haplotypes that allowed the discrimination of 86.2% of the samples tested. With this work we established a database of Y-STR and some parameters of forensic importance. This approach represents a very powerful tool for individual identification and paternity testing in forensic genetic.     

Allele frequencies and population data for 17 Y-STR loci (AmpFlSTR Y-filer) in a Northern Portuguese population sample

Allele frequencies and population data for 17 Y-STR loci included in a new commercial kit that has recently been available, the AmpFlSTR Y-filer PCR amplification kit (Applied Biosystems), that permits the simultaneous amplification of all the markers included in the actually used European "extended haplotype", DYS19, DYS189I, DYS389II, DYS390, DYS391, DYS392, DYS393, DYS385I/II, DYS438, DYS439 and also DYS437, DYS448, DYS456, DYS458, DYS635 and Y GATA H4, were obtained from a sample of 175 healthy unrelated males and 45 father-son pairs from the North of Portugal. A total of 171 haplotypes were identified, of which 167 were unique and 4 were found in 2 individuals. The haplotype diversity (99.97%) and discrimination capacity (95.43%) were calculated. We report some non-standard situations, such as allele duplications and mutations. We also report a case of disputed paternity in which duplicated alleles plus an inconsistency of the transmitted alleles appeared.     

Haplotype analysis of 17 Y-STR loci in a Japanese population

We analyzed 17 Y-STR loci (DYS19, DYS389I, DYS389II, DYS390, DYS391, DYS392, DYS393, DYS385a/b, DYS438, DYS439, DYS456, DYS458 and DYS464a/b/c/d) in 252 Japanese males using three multiplex PCR typing systems. Two variants were found at DYS385a/b. A total of 244 different haplotypes were observed, of which 239 were found in single individuals. The haplotype diversity for the 17 loci was 0.996.     

High-throughput Y-STR typing of U.S. populations with 27 regions of the Y chromosome using two multiplex PCR assays

Two Y-chromosome short tandem repeat (STR) multiplex polymerase chain reaction (PCR) assays were used to generate haplotypes for 19 single copy and 3 multi-copy Y-STRs. A total of 27 PCR products were examined in each sample using the following loci: DYS19, DYS385 a/b, DYS388, DYS389I/II, DYS390, DYS391, DYS392, DYS393, DYS426, DYS437, DYS438, DYS439, DYS447, DYS448, DYS450, DYS456, DYS458, DYS460, DYS464 a/b/c/d, H4, and YCAII a/b. The first multiplex is the Y-STR 20plex previously described by Butler et al. [Forensic Sci. Int. 129 (2002) 10]. The second multiplex is a novel Y-STR 11plex and includes DYS385 a/b, DYS447, DYS448 and the new markers DYS450, DYS456, DYS458, and DYS464 a/b/c/d. These two multiplexes were tested on 647 males from three United States population sample sets: 260 African Americans, 244 Caucasians, and 143 Hispanics. Haplotype comparisons between common loci included in the 20plex and 11plex assays as well as commercially available kits found excellent agreement across a sampling of the population samples. The multi-copy loci DYS464, DYS385, and YCAII were the most polymorphic followed by the following single copy Y-STRs: DYS458, DYS390, DYS447, DYS389II, DYS448, and DYS456. Samples containing the most common type in the European database could be well resolved with additional markers beyond the minimal haplotype loci.     

A Spanish population study of 17 Y-chromosome STR loci

Haplotype, allele frequencies and population data of 17 Y-chromosome STR loci DYS19, DYS385, DYS389I, DYS389II, DYS390, DYS391, DYS392, DYS393, DYS437, DYS438, DYS439, DYS460 (GATA A7.1), DYS461 (GATA A7.2), GATA A10, GATA C4 and GATA H4 were determined from a sample of 148 unrelated male individuals from Spain. A total of 144 haplotypes were identified by the 17 Y-STR markers, of which 141 were unique, two were found in two individuals and one was found in three individuals. The haplotype diversity (99.95%) and discrimination capacity (97.30%) were calculated. Comparisons were made with previously published haplotype data on other Iberian population samples and no significant differences were found.     

Y-chromosomal haplotypes for the AmpFlSTR Yfiler PCR Amplification Kit in a population sample from Central Poland

Haplotype and allele frequencies for 17 Y-STR loci (DYS456, DYS389I/II, DYS390, DYS458, DYS19, DYS385 I/II, Y GATA H4, DYS437, DYS438, DYS448, DYS393, DYS391, DYS439, Y GATA C4, DYS392) were determined in 255 unrelated males from central Poland using AmpFlSTR Yfiler PCR Amplification Kit. Two hundred and fifty-two different haplotypes were observed. The most common three haplotypes were shared by 0.8% of the sample, respectively. Two hundred and forty-nine haplotypes were encountered only once.     

Allele frequencies and population data for 17 Y-chromosome STR loci in a Serbian population sample from Vojvodina province

Seventeen Y-chromosomal STR (short tandem repeat) loci were analyzed in a group of 185 healthy unrelated male individuals (n=185) from the population of Serbian province of Vojvodina. After minimal haplotype STR loci analysis we observed 129 different haplotypes. The most frequent haplotype was found in 13 copies, and total haplotype diversity was 99.11%. After analysis of additional eight Y-STR loci (DYS437, DYS438, DYS439, DYS448, DYS456, DYS458, DYS635 and YGATAH4) there were 176 different haplotypes observed, out of which 168 appeared in single copies, and 7 haplotypes appeared twice. The most frequent haplotype was found in three copies. The haplotype diversity (99.94%) and discrimination capacity (95.13%) were calculated. Comparisons were made with previously published haplotype data on neighbouring population samples and significant differences were demonstrated at DYS19, DYS389II and DYS393 loci. Pairwise comparison of populations revealed that our sample was significantly different only from Hungarian sample (RST=23.98%, p=0.0091).     

Haplotype diversity of 16 Y-chromosomal STRs in three main ethnic populations (Malays, Chinese and Indians) in Malaysia

We have analyzed 16 Y-STR loci (DYS456, DYS389I, DYS390, DYS389II, DYS458, DYS19, DYS385a/b, DYS393, DYS391, DYS439, DYS635 or Y-GATA C4, DYS392, Y-GATA H4, DYS437, DYS438 and DYS448) from the non-recombining region of the human Y-chromosome in 980 male individuals from three main ethnic populations in Malaysia (Malay, Chinese, Indian) using the AmpFlSTR((R)) Y-filertrade mark (Applied Biosystems, Foster City, CA). The observed 17-loci haplotypes and the individual allele frequencies for each locus were estimated, whilst the locus diversity, haplotype diversity and discrimination capacity were calculated in the three ethnic populations. Analysis of molecular variance indicated that 88.7% of the haplotypic variation is found within population and 11.3% is between populations (fixation index F(ST)=0.113, p=0.000). This study has revealed Y-chromosomes with null alleles at several Y-loci, namely DYS458, DYS392, DYS389I, DYS389II, DYS439, DYS448 and Y-GATA H4; and several occurrences of duplications at the highly polymorphic DYS385 loci. Some of these deleted loci were in regions of the Y(q) arm that have been implicated in the occurrence of male infertility.     

Development and validation of the AmpFlSTR Yfiler PCR amplification kit: a male specific, single amplification 17 Y-STR multiplex system

In the past 5 years, there has been a substantial increase in the use of Y-short tandem repeat loci (Y-STRs) in forensic laboratories, especially in cases where typing autosomal STRs has met with limited success. The AmpFlSTR Yfiler PCR amplification kit simultaneously amplifies 17 Y-STR loci including the loci in the "European minimal haplotype" (DYS19, DYS385a/b, DYS389I, DYS389II, DYS390, DYS391, DYS392, and DYS393), the Scientific Working Group on DNA Analysis Methods (SWGDAM) recommended Y-STR loci (DYS438 and DYS439), and the highly polymorphic loci DYS437, DYS448, DYS456, DYS458, Y GATA H4, and DYS635 (formerly known as Y GATA C4). The Yfiler kit was validated according to the FBI/National Standards and SWGDAM guidelines. Our results showed that full profiles are attainable with low levels of male DNA (below 125 pg) and that under optimized conditions, no detectable cross-reactive products were obtained on human female DNA, bacteria, and commonly encountered animal species. Additionally, we demonstrated the ability to detect male specific profiles in admixed male and female blood samples at a ratio of 1:1000.     

Y染色体STR的银染复合扩增

目的建立一套Y染色体STR的复合扩增体系,检测中国藏族人群的单倍型分布。方法利用复合扩增的方法扩增DYS434、DYS443和DYS456三个基因座,利用聚丙烯酰胺凝胶电泳银染进行分型,检测西藏藏族101名无关男性个体单倍型分布。结果三个基因座在藏族样本中分别检测出4、4、6个等位基因,共检测出31种单倍型,其单倍型的变异度是0.9481,标准误为0.0049。结论Y-STR的复合扩增在法医学的亲权鉴定和个人识别中有重要的作用。     

Human Y-specific STR haplotypes in the Western Croatian population sample

Nine Y-chromosome STR loci (DYS19, DYS389I, DYS389II, DYS390, DYS391, DYS392, DYS393, DYS385 and YCAII) were analysed in a sample of 101 unrelated males from Croatia. Allelic frequencies and gene diversities for each Y-STR locus and haplotype diversity were determined. Ninety-one different haplotypes were obtained from 101 unrelated males and 84 haplotypes were unique. Three most common haplotypes were shared by 3% of the sample, one of them was not found in the online Y-STR Haplotype Reference Database (http://www.ystr.org/).     

Population data for 12 Y-chromosome STRs in a sample from Brescia (northern Italy)

Twelve Y-chromosome STRs--DYS19, DYS389-I, DYS389-II, DYS390, DYS391, DYS392, DYS393, DYS385, DYS437, DYS438, DYS439--were typed in a population sample (n=104) of unrelated males from Brescia (northern Italy). A total of 91 haplotypes were identified by the 12 Y-STR loci. The haplotype diversity (98.68%), discrimination capacity (87.50%) and gene diversity were calculated.     

云南汉族家系Y—STR基因座突变率研究

目的研究Y—filer试剂盒中DYS19等基因座在云南省汉族家系样本中的突变率。方法应用Y—filer试剂盒中的DYS456等16个Y—STR基因座对云南省30个汉族家系爷／孙、叔／侄和兄弟／堂兄弟亲权关系的106份样本进行基因分型检测,对DYS19等基因座分型与家系其他成员不同的样本分别进行了单位点的测序。结果6个（周姓、徐姓、王姓、袁姓、许姓、李姓）不同父系姓氏7例样本的10个Y—STR基因座发生突变,分别是DYS19、DYS385各2例,DYS389Ⅰ、DYS389Ⅱ、DYS390、DYS458、DYS393、DYS635各1例,总突变率为5．549‰;王姓、袁姓、许姓家系中各有1例样本分别在2个Y—STR基因座上发生了突变。结论男性家系中随机样本Y—STR基因座的突变率高于父子对样本;用Y—STR基因座进行父系亲权鉴定和男性嫌疑人的家系排查时,既使有2个Y—STR基因座分型不同时也不要轻易排除其来源于同一父系家系。     

Y-chromosome STR haplotypes in Somalis

A total of 201 males from Somalia were typed for the Y-chromosome STRs DYS19, DYS385a/b, DYS389-I, DYS389-II, DYS390, DYS391, DYS392, DYS393, DYS437, DYS438 and DYS439 with the PowerPlex Y kit (Promega). A total of 96 different haplotypes were observed and the haplotype diversity was 0.9715. The number of unique haplotypes was 71 while the most common haplotype was observed 24 times.     

Population study of 11 Y-chromosomal STR loci in Singapore Chinese

In this study of 212 unrelated Singapore Chinese males, allelic frequencies and gene diversities of 11 Y-chromosome specific STR loci (DYS19, DYS389I, DYS389II, DYS390, DYS391, DYS392, DYS393, DYS385a/b, DYS438 and DYS439) were established. A total of 184 haplotypes were observed in the 212 individuals studied, of which 165 (89.67%) were unique. The most common haplotype was observed in five (2.35%) individuals. The overall haplotype diversity for the 11 Y-STR loci was 99.81%, and the discrimination capacity was 86.79%.     

Examination of Y-STR mutations in sex chromosomal abnormality in forensic cases

The Y-STR typing was carried out on eight DNA samples (three from criminal cases) demonstrating Klinefelter's syndrome. STR types in the X chromosome were randomly distributed. However, some Y-STR markers were distributed within the normal range but restricted to only one or two specific alleles, that is, some specific haplotypes were found in Klinefelter's syndrome. In addition, a single nucleotide polymorphism in DYS390 (transversion of G to A at the 28th position downstream of tandem repeats) was detected in Klinefelter samples. This Y-STR polymorphism and restricted Y-STR alleles in Klinefelter's syndrome is not known, but it might be related to the genesis of Klinefelter's syndrome. We also found that extended standard haplotypes of these samples are extremely rare in the normal population, according to the Y-STR haplotype reference database (YHRD). The extended standard haplotype database in a Japanese population is also reported. In 100 unrelated Japanese, 89 haplotypes were observed, and the haplotype diversity was calculated to be 0.9866.