【摘要】 目的　探讨X 连锁隐性遗传的腓骨肌萎缩症 (CMTXR)与Cx32基因突变的关系。方法应用聚合酶链反应 单链构象多态性 (PCR SSCP)结合DNA序列分析方法检测了一个X 连锁隐性遗传的腓骨肌萎缩症家系中 4名患者 ,9名有血缘关系的正常人及家系外 5 0名无血缘关系的正常人。结果　发现该家系中 4例患者及 3名有血缘关系的正常人均出现异常SSCP条带 ,经测序证实为Arg15Gln突变。结论　Cx32基因突变可以导致X 连锁隐性遗传的腓骨肌萎缩症。应用PCR SSCP结合DNA序列分析方法可对由Cx32基因突变所致的X 连锁隐性遗传的腓骨肌萎缩症进行基因诊断更多还原

【Abstract】 Objective To study the Cx32 gene mutation in a X linked recessive Charcot Marie Tooth disease (CMTXR) family.Methods Mutation analysis of Cx32 was screened by polymerase chain reaction single strand conformation polymorphism (PCR SSCP) combined with DNA direct sequencing in 4 patients, 9 unaffected family members and 50 unrelated normal individuals.Results Arg15Gln mutation was found in 4 patients and 3 unaffected family members.Conclusion The mutation of Cx32 can also cause CMTXR. Using PCR SSCP combined with DNA direct sequencing can make gene diagnosis to CMTXR that is caused by Cx32 mutation.更多还原