中国汉族与日本群体DYFl55S1基因座的遗传多态性

目的探讨Y染色体DYF155S1基因座的遗传多态性及群体间差异。方法 应用MVR-PCR、荧光显谱及DNA序列分析技术,对来自中国群体(北方汉族,64例)和日本群体(43例)男性个体的DYF155S1基因座进行初步分析。结果107例样本共检出了5种重复序列类型,包括新的命名为6型的重复序列,它是在1型的基础上T22A置换所形成,仅存在于日本群体,可作为民族特征性遗传标记。2群体重复序列的排列方式以3134顺序为主,在中国和日本群体中各占73.44％和67.44％,是黄种人的特点。134顺序在中国群体中占第二位,为17.19％,6134排列占日本群体的16.28％。3’端的4型重复序列的平均数目在日本群体为8.8条,明显低于中国群体的12.5条。结论DYF155S1基因座具有非常高的遗传多态性和明显的群体差异。

Genetic polymorphisms of DYF155S1 locus on human Y chromosome in both the Han population, China and the Japanese population

Objective To study the genetic polymorphisms of DYF155S1 locus in 107 unrelated individuals both in the Han population, China and the Japanese population. Methods MVR-PCR, automated fluorescence detection and DNA sequence analysis were carried out for studying. Results Five types of repeat unit and one type newly named type 6 which was resulted from the T22A substitution on Type 1 were detected. Type 6 is monopolized by Japanese and may be regarded as a racial characteristic genetic marker. The common arrangement of the repeat units was 3134 which were detected at 73.44 % and 67.44 % in the Han and Japanese populations respectively. The abundance of arrangement of 3134 is the character of yellow race. Next to the arrangement of 3134 was the arrangement of 134 which was detected at 17.19% in the Han population while the arrangement of 6134 was detected at 16.28% in the Japanese population. The average number of type 4 unit at the 3'terminal was 8.8 in the Japanese population much lower than 12.5 in the Han population. Conclusion This study implies that DYF155S1 locus is an important geneticmarker with good genetic polymorphisms. The population difference between the Han and the Janpanes is significant.