Wilson病家系ATP7B基因第18外显子突变及多态  

A study on mutation and polymorphism of exon 18 in ATP7B gene of WD families.

作　　者：琚双五[1,2] 杨任民[1,2] 任明山[1,2] 范玉新[1,2] 胡纪原[1,2] 韩咏竹[1,2] 蔡永亮[1,2] 余龙[1,2] 

机构地区：[1]安徽中医学院神经病学研究所 [2]上海复旦大学遗传学研究所

出　　处：《中国优生与遗传杂志》1998年第5期10-12,共3页Chinese Journal of Birth Health & Heredity

基　　金：安徽省自然科学基金

摘　　要：目的：检测中国人Ｗｉｌｓｏｎ病（ＷＤ）基因的第１８外显子（ｅｘｏｎ１８）突变及多态。方法：应用多聚酶链反应－单链构象多态性（ＰＣＲ－ＳＳＣＰ）技术，分析１６个ＷＤ家系５４例个体和１８例正常人ＡＴＰ７Ｂ基因ｅｘｏｎ１８分子结构改变。结果：在ＷＤ家系中发现有３种单链构象，其中１种为正常构象，１种为突变，另１种可能为正常ＤＮＡ多态；１７例ＷＤ患者及其３７例一级亲属中分别检出突变者１０例和１１例，突变率分别为２９．４％和１４．９％。其中一级亲属检出的突变者中有３例经血清铜氧化酶及眼科Ｋ－Ｆ环检查证实为ＷＤ症状前患者。结论：ｅｘｏｎ１８是中国人ＷＤ基因突变热点之一，大多数ＷＤ患者为复合杂合子；应用ＰＣＲ－ＳＳＣＰ技术分析ｅｘ－ｏｎ１８是一种有效的ＷＤ基因筛选方法。Objectice:To detect the mutation and polymorphism in exon 18 in Chinese Wilson's disease gene(WND).Methods:Exon 18 in ATP7B gene was analysed by using polymerase chain reaction single stand conformation polymorphism(PCP SSCP) technique in DNA seperated from peripheral blood of 54 members in 16 WD families and 18 normal controls.Results:There existed three different band shifts (named as Ⅰ,Ⅱ,Ⅲ type),“I type ”of which was the normal conformation,“Ⅱ type”was derived from nutation,“Ⅲ type”from polymorphism.Meanwhile,we identified 10(10/17) and 11(11/37)heterozygotes respectively in patients with WD and first class relatives of WD. Out of 11 heterozygotes in first class relatives of WD,3 were presymptomatic patients confirmed by the detections of serum copper oxidase and Kayser Fleischer ring.Conclusion:Exon 18 might be one of hot points of mutation in chinese WD gene.Many patients with WD are compound heterozygotes.It is valuable for screening and diagonosis of WD gene by PCR SSCP technique.

关 键 词：WILSON病 基因突变 多聚酶 PCR-SSCP 

分 类 号：R575.24[医药卫生—消化系统]