汉族、维吾尔族献血人群CD61基因外显子10序列分析  

Mutations in the exon 10 of CD61 gene and their distributions in Han blood donors and Uyghur blood donors in China

作　　者：乔郑磊 陆萍[1] 叶璐夷[1] 库热西江.托呼提 李睿书[1] 凌冰[1] 朱自严[1] 

机构地区：[1]上海市血液中心 [2]新疆维吾尔医学专科学校

出　　处：《中国输血杂志》2015年第3期264-266,共3页Chinese Journal of Blood Transfusion

基　　金：上海市卫生局科研项目(20124240);公益卫生行业专项(201002005);卫生部艾滋行动计划(2014)

摘　　要：目的了解CD61基因外显子10的突变及其在中国汉族、维吾尔族(简称维族)人群中的分布情况。方法对随机采集的149(人)份汉族和96(人)份维族献血者的血液标本,在扩增CD61基因外显子10后直接测序,分析外显子10编码区基因序列。结果在汉族和维族人群中均发现在CD61基因外显子10的1533、1545位分别存在较高频率的A>G、G>A突变。在汉族人群中还存在1529位C>T。3个突变点均为同义突变,且1533和1545位的突变位于同一条染色体上。汉族人中1533A1545G表型频率为48.32%(72/149),1533G1545A表型频率为12.75%(19/149),1533A+G/1545G+A表型频率为38.93%(58/149),C1529T突变约占0.67%(1/149),维族中1533A1545G表型频率为53.12%(51/96),1533G1545A表型频率为5.22%(5/96),1533A+G/1545G+A表型频率为41.66%(40/96),无C1529T。结论中国汉族和维族人群的CD61基因外显子10存在3个SNP,且在汉族和维族人群分布频率差异甚小,这显示2个民族之间血缘上的关系比较亲近。Objective To study the polymorphism of the exon 10 in CD61 gene and their distributions in Han and Uyghur population. Methods Blood samples of 149 Han people and 96 Uyghur people were collected randomly. The exon 10 of CD61 gene was amplified and sent for DNA sequencing. Results There were two mutations found at positions 1533 and1545 at a quite high frequency in exon 10 of CD61 gene in both Han and Uyghur,and a new mutation C1529 T was only found in the Han population. All of them were synonymous mutations. The mutations at positions 1533 and 1545 were located on the same chromosome. In the Han population,the phenotypic frequency of 1533A1545 G was 48. 32%（ 72 /149）,1533G1545 A was 12. 75%（ 19 /149）,1533 A ＋ G /1545 G ＋ A was 38. 93%（ 58 /149）. C1529 T accounted for only about0. 67%（ 1 /149）. In the Uyghur population, the phenotypic frequency of 1533A1545 G was 53. 12%（ 51 /96）,1533G1545 A was 5. 32%（ 5 /96）,1533 A ＋ G /1545 G ＋ A was 38. 93%（ 40 /96）. There was no C1529 T found in Uyghur.Conclusion There were 3 SNPs in the exon 10 of CD61 gene in both Han and Uyghur. The difference between Han and Uyghur was not statistically significant. This indicated the intimate lineage between the two ethnic populations.

关 键 词：CD61基因 同义突变 人群分布 基因分型 汉族 维吾尔族 

分 类 号：R446.62[医药卫生—诊断学] R294[医药卫生—临床医学]