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

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。

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

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.