云南省几个民族葡萄糖-6-磷酸脱氢酶基因突变型分析  

Identification of G6PD gene mutations in several nationalities from Yunnan province

作　　者：何永蜀[1,2] 杜传书[1,2] 蒋纬莹[1,2] 王国燕[1,2] 任晓琴[1,2] 

机构地区：[1]中山医科大学医学遗传研究室 [2]昆明医学院

出　　处：《中华血液学杂志》1997年第4期193-196,共4页Chinese Journal of Hematology

基　　金：国家自然科学基金

摘　　要：目的：分析云南籍汉族及少数民族葡萄糖－６－磷酸脱氢酶（Ｇ６ＰＤ）缺乏症患者的Ｇ６ＰＤ基因突变。方法：应用自然引物或“错配引物”介导的多聚酶链反应限制性酶切分析方法，分析２９例云南籍几个民族Ｇ６ＰＤ缺乏症患者Ｇ６ＰＤ基因突变型。结果：发现１３８８突变１９例，１３７６突变１例，未定型９例。２９例标本中有７例为少数民族，分别为彝族３例（１３８８突变）、白族２例（１３８８突变）、傣族１例（１３８８突变）、纳西族１例（１３８８突变）。除傣族外，在其余三个少数民族中检出Ｇ６ＰＤ基因１３８８突变在国内尚属首次。结论：这种突变的发生早于少数民族形成之前，并可推测云南省Ｇ６ＰＤ缺乏症患者中Ｇ６ＰＤ基因突变型分布比例，有助于了解分子进化进程。Objective:To analyze the G6PD gene mutations in several nationalities from Yunnan province.Methods:G6PD gene mutation of 29 samples from G6PD deficient patients were analyzed by using common and mis matched primering PCR followed by restriction enzyme digestion.The samples were collected from Yunnan province among several nationalities.Results:In these 29 cases, 20 were of two known mutations, including 19 of 1388(G→A) and 1 of 1376(G→T) mutation.The 7 cases of national minorities,including 3 of Yi ,2 of Bai ,1 of Dai , and 1 of Naxi ),were all 1388 mutations. No report of the G6PD gene 1388 mutation in these ethnic groups was published excepting for Dai.Conclusion:The mutation probably had been prevalent before the emergence of these national minorities.The approximate rate of G6PD gene mutations provided in Yunnan province may, in some respects,help to interpret the molecular evolution.

关 键 词：葡萄糖 磷酸脱氢酶 遗传性酶病 G6PD 基因突变 

分 类 号：R596.02[医药卫生—内科学]