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７８６％，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.
出处
《中华血液学杂志》
CAS
CSCD
北大核心
1999年第4期194-196,共3页
Chinese Journal of Hematology
基金
国家自然科学基金
关键词
G6PD缺乏
基因扩增
基因突变
Glucose phosphate dehydrogenase Gene amplification Genotype Yi minority
