摘要
目的 鉴定中国白族和傣族人群中的葡萄糖６磷酸脱氢酶（Ｇ６ＰＤ）Ｇ４８７Ａ 基因突变型，为少数民族Ｇ６ＰＤ缺乏症的防治提供理论指导；为研究分子进化、民族起源及迁移提供遗传学资料。方法 对云南白族、傣族、汉族及广西汉族的Ｇ６ＰＤ缺乏症患者进行聚合酶链反应限制性内切酶分析（ＰＣＲＲＥ） ，聚合酶链反应单链构象多态性（ＰＣＲＳＳＣＰ） 及ＤＮＡ序列分析。结果 首次在白族及傣族人群中发现Ｇ６ＰＤＧ４８７Ａ基因突变型。６６ 例白族患者中发现６ 例，５２ 例傣族患者中发现１ 例Ｇ４８７Ａ 突变；检查４６ 例广西汉族患者未发现该突变。Ｇ６ＰＤＧ４８７Ａ基因突变型的个体在无诱因作用时，其血红蛋白含量、红细胞计数及网织红细胞计数基本正常。结论 Ｇ６ＰＤＧ４８７Ａ 基因突变型多属Ｇ６ＰＤ 缺乏症临床Ⅲ型；该突变型是汉族、白族和傣族共同具有的基因突变型。
Objective In order to reveal the molecular evolution and ethnic origin and immigration,on the basis of G6PD G487A mutation,and estimate the incidence of the mutation in Bai, Dai, and Han people in Yunnan and Guangxi.Method G6PD deficient individuals were studied by using PCR RE,PCR SSCP and DNA sequencing.Results The G487A mutation in Bai and Dai people was identified for the first time and its relative incidences were 6/66 and 1/52,respectively.The individuals of G6PD G487A mutation showed the features of G6PD clinic type Ⅲ.No G487A was found in Han people in Guangxi(0/46).Conclusion The G6PD G487A mutation revealed in some ethnic groups of China implies that different national minorities of Chinese may be origined from a common ancestor.
出处
《中华血液学杂志》
CAS
CSCD
北大核心
1999年第10期518-520,共3页
Chinese Journal of Hematology
基金
国家自然科学基金
关键词
葡糖磷酸脱氢酶
G6PD缺乏
基因突变
Glucose phosphate dehydrogenase Hemolysis Gene Point mutation Ethnic relationship
