重庆市新生儿葡萄糖-6-磷酸脱氢酶基因突变型研究

【外文题名】Research of the Three G6PD Gene Mutations in Neonate from Chong Qing City

【作者】 王付丽

【关键词】 新生儿 葡萄糖 6 磷酸脱氢酶缺乏症 基因突变型分析

【外文关键词】 neonate glucose 6 phosphate dehydrogenase gene mutation analysis

【导师姓名】徐酉华

【学位名称】硕士

【学位年度】2005

【学位授予单位】暂无

【所属分类】R722.1

【录入时间】2005-01-01

【全文挂接】 知网挂接 万方挂接 读秀挂接

【摘要】码区长1548bp,编码515个氨基酸。根据世界卫生组织(WHO)对G-6PD变异型鉴定标准,即酶的活性、电泳速度、底物的米氏常数和NADP的亲和力、指纹分析等指标,已发现了400多种生化变异型。其中有20多种能发生溶血。正常的G-6PD生化型为B型,非洲人群中有一种酶活性降低的变异型-A。在我国迄今至少已发现G-6PD香港型、广东型、客家型、苗族白沙型和台湾型等40多种B型G-6-PD变异型。已发现G6PD基因突变型126种,除5种为缺失外,其余均为点突变。中国人有15种突变类型,它们是:G1388A、G1376T、A95G、C1311T、G392T、C1024T、C592T、C1004T、A493G、G487A、C1360T、A835T、G1381A、G1387T、G871A。G6PD生化变异型与基因突变型之间无......

【外文摘要】Objective: Heredity glucose-6-phosphate dehydrogenase(G6PD) deficiency in red blood cells is the most common enzymopathy of humans, affecting approximate 400 million people worldwilde. there is a regional high frequency in southern China, there is a regional high frequency in ChongQing. It is estimated that the incidence of disease of G6PD is 4%-15%.individual area reachs 40%. the G6PD gene is housekeepinggene typically, and is located on region Xq28,roughly 20114 bp,13 exons,and 12 introns. coding spacer......