中国一进行性肌营养不良家系相关致病基因Dystrophin突变检测结果分析  

Mutation detection of dystrophin gene in one member of a Chinese family with Duchenne muscular dystrophy

作　　者：田莉[1] 张凌[1] 杜戎[1] 朱元洲[1] 柯琴梅[1] 祝建芳[1] 

机构地区：[1]华中科技大学同济医学院附属协和医院,武汉430022

出　　处：《山东医药》2013年第34期1-3,共3页Shandong Medical Journal

基　　金：2012年度高等学校博士学科点专项科研基金20120142120080)

摘　　要：目的探讨进行性肌营养不良(DMD)家系相关致病基因Dystrophin基因突变情况。方法收集一个DMD家系的临床资料,采用聚合酶链反应及直接测序法对此家系成员进行Dystrophin基因突变检测,同时对140例家系外健康对照者的该基因位点进行限制性核酸内切酶分析(PELP)。结果在DMD家系中先证者(DMD患者1例)发现了一个纯合变异基因,即Dystrophin基因59号外显子上发现一个错义变异(G9017A),导致代表精氨酸的2937位密码子转变为为谷氨酰胺(R2937Q)。在健康对照者中未发现此位点的变异。结论在一个中国DMD家系先证者的Dystrophin基因上发现了一个尚未报道的基因突变位点。Objective To investigate the mutations of dystrophin gene in a Chinese family with Duchenne muscular dystrophy （DMD）.Methods Clinical information from a DMD pedigree was collected.Subsequently,PCR and DNA sequence analysis were used to detect the mutations of dystrophin gene.Meanwhile,the gene locus of 140 normal controls was analyzed by polymerase chain reaction-restriction enzyme fragment length polymorphism （RELP） analysis to determine if the mutation was present.Results A homozygous mutation was found in one member of the Chinese family with DMD,that was a missense mutation （G9017A） in exon 59 of dystrophin gene,which resulted in a arginine to glutamine substitution at codon 2937.And no mutation was found in the healthy controls.Conclusion A unreported mutation of the dystrophin gene is found in the Chinese family with DMD.

关 键 词：进行性肌营养不良 抗肌萎缩蛋白基因 基因突变 

分 类 号：R394[医药卫生—医学遗传学]