中国湖南地区汉族人Y染色体特异性短重复序列多态性研究

GENETIC POLYMORPHISMS OF Y CHROMOSOME SPECIFIC SHORT TANDEM REPEATS IN HUNAN HAN NAIONALITY

为了解中国汉族人群Ｙ染色体特异性短重复序列多态性分布，作者应用聚合酶链反应（ＰＣＲ），用两个Ｙ染色体特异性微卫星：Ｙ－２７Ｈ３９和ＹＣＡⅡ，分析中国湖南地区１３８例汉族人等位基因分布规律，并与北非突尼斯和意大利撒丁岛白种人之等位基因分布情况进行比较。结果显示：（１）Ｙ２７Ｈ３９除已报道的Ａ、Ｂ、Ｃ、Ｄ、Ｅ５个等位基因外，又发现２个新的等位基因。湖南地区汉族人以Ｃ占多数，其频率为０．５５９（ｎ＝１１８）；撒丁岛白种人以Ｂ、Ｃ和Ｅ为主，分别为０．２５３，０．２５３和０．２８６（ｎ＝９１），突尼斯人则Ａ和Ｂ居多，分别为０．３８８和０．４０３（ｎ＝６７）；（２）ＹＣＡⅡ在１３８例汉族人中，以３Ｎ，ｂⅠ、ａⅤ，ｂⅣ和ａⅢ、ｂⅠ居绝大多数，其基因单体型频率分别为：０．２８３、０．１８８和０．１８８（ｎ＝１３８），尚未与其他人种的大样本量比较。提示：湖南地区汉族人与其它白种人、黑种人之间Ｙ特异性微卫星等位基因分布特点有明显差别。本研究结果，为人类遗传学提供了资料和研究手段。

Human genome contains a number of dispersed short tandem repeats which are called microsatellites.Since their lengths are highly polymorphic and informative,these microsatellites are good DNA markers.Using polymerase chain reaction,we amplified two Y-specific microsatellites Y 27H3 9 and YCA Ⅲ to analyse Han Chinese in Hunan,China.Also we compared the findings in Chinese with those in Sardinians and Tunisians.Y-27H39:with five allelesA,B,C,D,E of 186,190,194,198,202bp respectively,which had been previously identified ,we found predominantly C alleles(0.559) in Chinese,B,Cand E(0.253,0.253 and 0.286 respectively in Sardinians,and A and Balleles(0.388 and 0.403) in Tunisians.An allele of 178bp was found in one Tunisian and of 206bp in 2 Chinese.YCA Ⅲ:In 138 Chinese individuals analysed with this Y-secific microsatellite,16 haplotypes were detected,of which 5 had heen reported by Mathias(Mathias N,et al.1994 )and 10 were new.The most frequent haplotypes found in our Chinese samples were:YCA Ⅲ a Ⅳ,bⅠ(0.283),YCA Ⅲ,aV,bⅣ(0.188),and YCA Ⅱ aⅢ,bⅠ(0.188).There are significant differences between Han Chinese and Caucasians,Negroids.Further investigation of YCA Ⅱ is needed.