PCR直接测序在Wilson病基因第8外显子检出一个突变热点  

IDENTIFICATION OF A MUTATION HOTSPOT IN EXON 8 OF WILSON'S DISEASE GENE BY CYCLE SEQUENCING

作　　者：许月芳[1,2] 范玉新[1,2] 余龙[1,2] 江萤 杨任民 韩咏竹[1,2] 崔映宇 任明山[1,2] 赵寿元 

机构地区：[1]复旦大学遗传学研究所 [2]安徽中医学院神经病学研究所

出　　处：《中华医学遗传学杂志》1998年第5期284-287,共4页Chinese Journal of Medical Genetics

基　　金：国家自然科学基金

摘　　要：目的寻找中国人Ｗｉｌｓｏｎ病（ＷＤ）基因突变热点。方法应用ＰＣＲ直接测序法对３０例Ｗｉｌｓｏｎ病患者ＷＤ基因第８外显子进行了突变筛查。结果在１４例患者中发现同一种错义突变Ａｒｇ７７８Ｌｅｕ，其中４例为这一突变的纯合，其余为杂合，突变率为３０％。结论ＷＤ基因第８外显子７７８位密码子（ＣＧＧ→ＣＴＧ）系中国人的突变热点之一。Objective To screen for mutation hotspot of Wilson's disease (WD) gene in Chinese. Methods Cycle sequencing was used to detect mutation in exon 8 of WD gene in 30 patients with WD. Results The same missense mutation, Arg778Leu, was identified in 14 WD patients, four of which were homozygous and the others were heterozygous for this mutation. The frequency of this mutation was 30%.Conclusion The codon 778(CGG→CTG) of exon 8 in WD gene was one of mutation hotspots in Chinese.

关 键 词：肝豆状核变性 聚合酶链反应 WD基因 基因突变 

分 类 号：R742.404[医药卫生—神经病学与精神病学]