一进行性肌营养不良中国家系相关基因Dystrophin的突变的检测

摘要

Objective To identify the genetic causes of Duchenne muscular dystrophy (DMD) in a Chinese consanguineous family with one individual affected with DMD.Methods We collected clinical information from a DMD pedigree.Subsequently,polymerase chain reaction(PCR) and DNA sequence analysis were used to detect the dystrophin gene mutations.Meanwhile,we carried out the polymerase chain reaction-restriction fragment length polymorphism (RELP) analysis to determine if the mutation was present in 150 normal controls.Results A missense mutation (A2851G),were identified in dystrophin gene of DMD patients.Conclusion The results revealed a unreported polymorphism(A2851 G)of the dystrophin gene in Chinese DMD patients.%目的 对进行性肌营养不良(duchenne muscular dystrophy,DMD)中国家系致病基因Dystrophin基因多态位点及突变位点的研究.方法 收集进行性肌营养不良家系临床资料,采用聚合酶链反应及直接测序法对此家系进行Dystrophin基因突变检测,同时对150名家系外健康对照者的该位点进行限制性核酸内切酶(restriction endonuclease)分析.结果 在进行性肌营养不良家系中发现了一个纯合变异,即Dystrophin基因21号外显子上发现一个错义变异(A2851G),导致代表天冬氨酸的882位密码子变化为甘氨酸(D882G),通过测序及限制性核酸内切酶(RELP)等方法,其家系中有6名(包括先证者)均有此位点的改变.结论 在中国人进行性肌营养不良患者的Dystrophin基因上发现了一个尚未报道的错义多态位点.