中国北方汉族人DYS19基因座多态性及应用

调查了DYS19基因在中国北方汉人群体中的基因频率分布(0.013～0.516),观察到6个等位基因,各等位基因分布存在明显的地域性差异,并对陈旧、微量、降解的生物检材具有良好的适用性.     

Population data of 10 Y-chromosomal STR Loci in Cebu province, Central Visayas (Philippines)

Population: 103 unrelated male individuals from Cebu province, Central Visayas region of the Philippines.     

Internal Validation of the AmpFlSTR Yfiler™ Amplification Kit for Use in Forensic Casework

Abstract:  Y-chromosomal short-tandem repeat (Y-STR) amplification has been used in forensic casework at the Bureau of Criminal Apprehension (BCA) Forensic Science Laboratory since 2003. At that time, two separate amplifications were required to type the SWGDAM recommended loci (DYS19, DYS385a/b, DYS389I, DYS389II, DYS390, DYS391, DYS392, DYS393, DYS438, and DYS439). The Yfiler™ kit coamplifies these loci as well as DYS437, DYS448, DYS456, DYS458, DYS635, and Y GATA H4. The Yfiler™ kit was validated following the internal validations outlined in the SWGDAM revised validation guidelines. Our studies show that 0.125 ng of male DNA will generate a complete 17 locus profile and that as little as 0.06 ng of male DNA yields an average of nine loci. In the male–male mixtures, a complete profile from the minor component was detected up to 1:5 ratio; most of the alleles of the minor component were detected at a 1:10 ratio and more than half the alleles of the minor component were detected at a 1:20 ratio. Complete YSTR profiles were obtained when 500 pg male DNA was mixed with female DNA at ratios up to 1:1000. At ratios of 1:5000 and 1:10,000 (male DNA to female DNA) inhibition of the YSTR amplification was evident. The YSTR results obtained for the adjudicated case samples gave significantly more probative information than the autosomal results. Our studies demonstrate that the Yfiler™ kit is extremely sensitive, does not exhibit cross-reactivity with female DNA, successfully types male DNA in the presence of overwhelming amounts of female DNA and is successful in typing actual forensic samples from adjudicated cases.     

DYS708、DYS713和DYS715基因座的PCR扩增和银染检测

本研究采用PCR—PAGE技术调查了DYS708、DYS713和DYS7153个新的Y—STR基因座在华东地区汉族群体中的分布，并评价他们在法医学中的应用价值．旨在筛选适合于亲权鉴定的新的Y—STR基因座。     

DYS385检测方法的改进

目的建立检测DYS385的新方法。方法比较基因数据库(GDB)中推荐的引物和Schneider所设计的引物扩增DYS385的效果;在此基础上,以GDB推荐的引物作为外引物,Schneider所设计的引物作为内引物,通过调整内、外引物的浓度,优化扩增条件,建立DYS385的半巢式PCR体系。结果与常规方法相比,采用Schneider所设计的引物扩增DYS385,扩增片段缩短112bp,电泳分离的效果好,灵敏度提高2倍,达500pg;建立的半巢式扩增方法,能特异性扩增短片段,灵敏度提高20倍,达50pg。结论建立的DYS385半巢式扩增方法具有更高的特异性和灵敏度,适合法医学应用。     

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。     

Genetics and genomics of core short tandem repeat loci used in human identity testing

Over the past decade, the human identity testing community has settled on a set of core short tandem repeat (STR) loci that are widely used for DNA typing applications. A variety of commercial kits enable robust amplification of these core STR loci. A brief history is presented regarding the selection of core autosomal and Y-chromosomal STR markers. The physical location of each STR locus in the human genome is delineated and allele ranges and variants observed in human populations are summarized as are mutation rates observed from parentage testing. Internet resources for additional information on core STR loci are reviewed. Additional topics are also discussed, including potential linkage of STR loci to genetic disease-causing genes, probabilistic predictions of sample ethnicity, and desirable characteristics for additional STR loci that may be added in the future to the current core loci. These core STR loci, which form the basis for DNA databases worldwide, will continue to play an important role in forensic science for many years to come.     

Genetic structure among 38 populations from the United States based on 11 U.S. core Y chromosome STRs

A DNA database consisting of the 11 Y chromosome short-tandem-repeat (Y-STR) recommended by the Scientific Working Group on DNA Analysis Methods is constructed for 2517 individuals from 38 populations in the United States. The population samples derive from five ethnic groups currently living in 10 states. A multidimensional scaling (MDS) plot places the populations into four discrete clusters (African Americans (AA), European Americans (EA), Hispanic Americans (HA), and Asian Americans (SA)) and one dispersed cluster of Native Americans. An analysis of molecular variance (AMOVA) indicates that a large proportion of the total genetic variance is partitioned among ethnic groups (24.8%), whereas only a small amount (1.5%) is found among-populations within ethnic groups. Separate AMOVA analyses within each ethnic group show that only the NA sample contains statistically significant among-population variation. Pair wise population differentiation tests do uncover heterogeneity among EA and among HA populations; however, this is due to only a single sample within each group. The analyses support the creation of AA, EA, HA, and Asian American databases in which samples from different geographic regions within the United States are pooled. We recommend that separate databases be constructed for different NA groups.     

Genetic analysis for Y chromosome short tandem repeat haplotypes of Chinese Han population residing in the Ningxia province of China

POPULATION: One hundred and one unrelated, autochthonous healthy males of the Chinese Han population living in Yongning county of the Ningxia Hui Autonomous Region of China.