云南省彝族三种常见葡萄糖-6-磷酸脱氢酶基因突变型分析  

Identification of three common G6PD gene mutations in Yi minority in Yunnan province

作　　者：何永蜀[1,2,3] 陈乔[1,2,3] 张志莲 王国燕[1,2,3] 杜传书 

机构地区：[1]中山医科大学医学遗传学研究室 [2]昆明医学院 [3]云南省永仁县人民医院

出　　处：《中华血液学杂志》1999年第4期194-196,共3页Chinese Journal of Hematology

基　　金：国家自然科学基金

摘　　要：目的分析云南籍彝族葡萄糖６磷酸脱氢酶（Ｇ６ＰＤ）缺乏症患者三种常见基因突变型。方法应用突变特异性扩增系统（ＡＲＭＳ）分析２８例云南籍彝族Ｇ６ＰＤ缺乏症患者Ｇ６ＰＤ基因突变类型。结果发现１３８８（Ｇ→Ａ）突变１２例，１３７６（Ｇ→Ｔ）突变９例，９５（Ａ→Ｇ）突变１例，未定型６例。结论在彝族人群中检出１３７６和９５突变在国内尚属首次。上述三种突变在２８例彝族Ｇ６ＰＤ缺乏症患者中占７８６％，且也为汉族中的常见突变，结果提示汉族和彝族可能源于同一祖先，云南省彝族的形成可能是在Ｇ６ＰＤ基因常见突变产生之后，为研究彝族的起源提供了分子遗传学资料。Objective To identify three common G6PD gene mutations in Yi minority in Yunnan province.Methods G6PD gene mutation of 28 samples from G6PD deficient patients was detected by using amplification refractory mutation system(ARMS).Samples were collected from Yi minority in Yunnan province.Results In 28 cases,22 were identified to be three known mutations,including 12 of 1388(G→A),9 of 1376(G→T) and 1 of 95(A→G).The remaining 6 cases were undefined.Conclusions This is the first report of G6PD gene G1376T and A95G mutations in Yi minority.The three common mutations account for 78 6% of the 28 cases.

关 键 词：G6PD缺乏 基因扩增 基因突变 

分 类 号：R596.02[医药卫生—内科学]