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- STRs and forensic parameters in African populations

Short Tandem Repeat polymorphisms have been widely studied in the world, since specific databases are required to produce correct estimates of forensic statistical parameters. In this regard, Y-chromosome STRs have been studied mainly in Europe but are relatively scarce for sub-Saharan populations, despite these populations are represented in most of the Western countries. The aim of this work is to detect groups of populations with the lowest genetic variability within the African context. This allows to establish the relative homogeneity of Y-STRs databases for forensic casework and eventually to provide a wider insight into the African genetic history.     

荧光复合扩增检测3个Y—STR基因座单倍型

目的建立检测3个Y-STR基因座Y-GATA-A7.1、DYS456和DYS443的荧光复合扩增体系,并获取中国汉族人群单倍型频率分布。方法用荧光标记引物对郑州地区203名汉族男性无关个体进行3个基因座复合扩增,ABI3100型遗传分析仪检测、分型。结果Y-GATA-A7.1、DYS456和DYS443基因座分别检出5、6和6个等位基因,其基因多样性(GD值)分别为0.6692、0.5839和0.7053。三个基因座构成的单倍型共有44种,单倍型多样性(HD值)为0.9523。结论建立的3个Y-STR基因座荧光标记复合扩增系统具有很高的识别能力,可应用于法医学实践。     

Development of a new 17 Y-STRs system using fluorescent-labelled universal primers and its application in Shanxi population in China

Y-chromosomal short tandem repeats (Y-STRs) polymorphisms are useful in forensic identification, population genetics and constructing of human structures. Increasing the number of Y-STRs and their polymorphism will drastically narrow down the matching number of genealogy populations or pedigrees when searching against a forensic DNA databank. In this study, we develop a system containing 17 complementary Y-STRs that are compatible and reinforce the current commercially available Y-STR kits. This system was constructed by multiplex PCR with expected size of 126bp-400bp using home-made universal primers labeled by different fluorescence (DYS715, DYS709, DYS716, DYS713, DYS607, DYS718, DYS723, DYS708, DYS714, DYS712, DYS717, DYS721, DYS605, DYS719, DYS726, DYS598 and DYS722). The genetic data were obtained from 394 individuals in Shanxi province, China. The Y-STR system has 131 haplotypes and high discrimination power is 1. In conclusion, our study provides a robust, sensitive and cost-effective genotyping method for human identification, which is beneficial for narrowing the searching scope when applying to the genealogy searching with Y-STR DNA databank.     

Study of rapidly mutating Y-STRs in a Portuguese population

This work aimed to study the rapidly mutating Y-STRs in a population of Portugal Centre. The results showed that these markers are highly polymorphic, observing that each sample had a unique haplotype.     

Dissecting the Finnish male uniformity: The value of additional Y-STR loci

The forensic use of Y-chromosomal markers can be hampered by reduced diversity and geographical subdivision in some populations. In Finland both of these confounding factors are well documented, but it is also shown that increase of data could resolve or at least alleviate these problems. In order to increase the forensic usability of Y-chromosomal data in Finland, we have here evaluated the diversity at a number of additional Y-STRs. A seven Y-STR locus panel (“FY7”: DYS449, DYS460, DYS505, DYS522, DYS576, DYS612 and DYS627) was found to reveal higher diversity levels among Finns than the substantially larger commercial multiplexes commonly in use. The Y-STR data augmented with the FY7 panel shows substantially higher discrimination capacity and lower levels of geographical structure among Finns. Amplifiable in one multiplex, this set of loci offers an informative and easy-to-use supplementary for the commercial Y-STR kits.     

Y-chromosomal STR haplotypes in a Gypsy population from Portugal

We analyzed 17 Y-chromosomal STR loci in a population sample of 126 unrelated Portuguese Gypsies. Fifty three different haplotypes were found, three represented with considerable high frequencies (≥8.7%). The percentage of unique haplotypes (71.2%) was rather low as well as haplotype diversity (94.37%). In the comparison with available Portuguese population data and with those from other Gypsy and general population samples from Bulgaria, Lithuania and Spain, our sample showed significant differences in comparison with the general population data from Portugal, Spain and Bulgaria. Significant differences were observed with Bulgarian Gypsies, but not with the Spanish or Lithuanian groups. The Gypsy populations from Portugal, Spain and Bulgaria were found to be more closely related to each other than with the general population from their own countries.     

Y-STR mutational rates determination in South Portugal Caucasian population

Y-STR mutational rate estimation is very important for the correct evaluation of typing results in forensic casework and specially kinship genetic studies. In this work we studied 95 Southern Portuguese Caucasian father/son pairs in order to estimate mutational rates for the 17 Y-STRs multiplex used in routine casework. In a total of 1615 allele transfers three single step mutations were detected in DYS385a, DYS439, and DYS448, with an estimated mutation rate of 10,526 × 10⁻³ (95%CI 0.265 × 10⁻³ to 20.788 × 10⁻³). The estimated average mutation rate is 1.858 × 10⁻³ (95%CI 8.08 × 10⁻⁴ to 2.908 × 10⁻³). It would be important to characterize more father/son pairs in order to estimate more reliable allele specific mutation rates for the most widely used Y-STRs markers in forensic genetics.     

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.     

Data for Y-chromosome haplotypes in Fang and Bubi populations from Bioko (Equatorial Guinea)

Haplotype frequencies for 16 Y-chromosomal short tandem repeat (DYS456, DYS389I, DYS390, DYS389II, DYS458, DYS19, DYS385a/b, DYS393, DYS391, DYS439, DYS635, DYS392, Y GATA H4, DYS437, DYS438 and DYS448) loci, included in the AmpFLSTR Yfiler PCR Amplification Kit, were analysed in 110 Fang and 133 Bubi individuals from Bioko Island, Equatorial Guinea. The diversity was higher in Fang population, probably since they were originally from the mainland, with which they maintain tribal village and family links, and to which they travel frequently. Comparisons were made with previously published haplotype data on European and African populations, and significant differences were found between them.