Bender Klaus, Stradmann-Bellinghausen Beate, Rittner Christian, Schneider Peter M
Institute of Legal Medicine, Johannes Gutenberg University Mainz, Am Pulverturm 3, D-55131 Mainz, Germany.
Leg Med (Tokyo). 2003 Mar;5 Suppl 1:S164-8. doi: 10.1016/s1344-6223(02)00101-3.
We have typed genomic DNA samples from 95 individuals from Western Germany, 78 individuals from Bangkok/Thailand and 56 individuals from Chengdu/China for 11 Y-chromosomal diallelic polymorphisms and eight short tandem repeat (STR) systems. For single nucleotide polymorphism (SNP) analysis, a rapid method was applied using the single base extension technology (minisequencing) in combination with capillary electrophoresis. PCR products for SRY-8299, Tat, SRY2627, 92R7, SRY1532, M9, M13, M17/M19 and M20 were pooled and used as templates for the commercially available SNaPshot kit. In addition to these ten SNPs we also tested the Y-chromosomal diallelic Alu repeat insertion DYS287 (YAP) by agarose gel electrophoresis as well as the Y-chromosomal STR systems DYS19, DYS389I+II, DYS390, DYS391, DYS392, DYS393 and DYS385 by fluorescent multiplex fragment analysis. Among the 11 diallelic SNP/Alu systems, only six were found to be polymorphic in the three population samples. From these a total number of seven different haplogroups could be identified in the three populations. Of these, five haplogroups were present in Germans, five in Thais, and only two in Chinese. These haplogroup trees clearly represent population-specific structures. Haplogroup 26 is represented at a high frequency in the Thai and Chinese populations whereas it is absent in Germans. The Y-STR data confirm a haplogroup-specific distribution of Y-STR haplotypes. Only a few cases of identical STR haplotypes in the same SNP haplogroups were detected in each of the three populations studied.
我们对来自德国西部的95名个体、来自泰国曼谷的78名个体以及来自中国成都的56名个体的基因组DNA样本进行了11个Y染色体双等位基因多态性和8个短串联重复序列(STR)系统的分型。对于单核苷酸多态性(SNP)分析,采用了单碱基延伸技术(微测序)结合毛细管电泳的快速方法。将SRY - 8299、Tat、SRY2627、92R7、SRY1532、M9、M13、M17/M19和M20的PCR产物混合,用作市售SNaPshot试剂盒的模板。除了这10个SNP外,我们还通过琼脂糖凝胶电泳检测了Y染色体双等位基因Alu重复插入DYS287(YAP),并通过荧光多重片段分析检测了Y染色体STR系统DYS19、DYS389I + II、DYS390、DYS391、DYS392、DYS393和DYS385。在11个双等位基因SNP/Alu系统中,仅发现6个在这三个人群样本中具有多态性。从这些系统中,在这三个人群中总共鉴定出7种不同的单倍群。其中,5种单倍群存在于德国人中,5种存在于泰国人中,而在中国人群中仅存在2种。这些单倍群树清楚地代表了人群特异性结构。单倍群26在泰国人和中国人中以高频率出现,而在德国人中不存在。Y - STR数据证实了Y - STR单倍型的单倍群特异性分布。在所研究的三个人群中,每个群体仅检测到少数相同SNP单倍群中的相同STR单倍型情况。