DYF155S1位点遗传多态性及群体差异分析

目的：探讨人类Y染色体DYF155S1位点遗传多态性及群体差异。方法：应用小卫星重复单位变异分型-聚合酶链反应（ministatellite variant repeat mapping -polymerase chain reaction，MVR-PCR）、荧光显谱、DNA序列分析技术对中国北方汉族、南方汉族、藏族、维吾尔族及日本、韩国、南非黑人、南非白人等8个群体各10名个体和2只黑猩猩的DYF155S1位点进行了初步分析。结果：同时检出了DYF155S1和DYF155S2两个位点，全部样品的DYF155S2位点没有差别，均含有1个4型重复序列，为DYF155S1位点的祖先基因。在DYF155S1位占，没有发现DNA序列同样的个体。重复序列的排列方式具有明显的人种差异，黄种人以3134排列为主；白人以134排列为主；黑人以nu113a1a3a4a4排列为主。白人4型重复序列的平均数目明显高于黄种人。另外发现6型和7型2种新的重复序列型，6型是在1型的基础上为T22A置换，仅见于日本群体（3人）。7型是在3型的基础上为T22A置换，见于藏族（4人）、南方汉族（1人）及韩国（1人）群体。结论：DYF155S1位点具有较高的遗传多态性和明显的群体差异，是法医学和人类遗传学研究的一个重要遗传标记。

Primary study on genetic polymorphism and population difference of locus DYF155S1

Objective To understand the genetic polymorphism and population difference of locus DYF155S1 on human Y chromosome. Methods Using minisatellite variant repeat mapping polymerase chain reaction (MVR PCR), automated fluorescence detection, DNA sequence analysis, the authors studied the locus DYF155S1 of two chimpanzee and 10 human subjects from each of the following 8 groups: Northern China Hans, Southern China Hans, the Zang (Tibetan) nationality, the Uighur nationality, Japanese, Korean, Black African, White African. Results In this study, loci DYF155S1 and DYF155S2 have been detected. There is no difference in all of the samples on the locus DYF155S2; each sample contains one type 4 repeat unit, which is the ancestor gene of locus DYF155S1. On locus DYF155S1, each individual has its specific DNA sequence. The arrangement of the repeat units differs greatly in races: arrangement 3134 in the yellow race, arrangement 134 in the white race, and arrangement null3a1a4a4 in the black race were most common. The average number of the type 4 repeat unit in the white race is much higher than that in the yellow race. The authors also found two new types of repeat unit: type 6 and type 7. Type 6 is the result of the T22A substitution on type 1, which was observed in Japanese (3 samples). Type 7 is resulted from the T22A substitution on type 3, which was observed in the Zang nationality (4 samples), Southern China Hans(1 sample), and Korea (1 sample). Conclusion Locus DYF155S1 has great genetic polymorphism and obvious population difference. Its significance should receive more attention in forensic science and human genetics research.