关键词: 腓骨肌萎缩症, X-连锁, GJB1基因, 突变

Abstract:

Mutation of GJB1 gene was investigated in two families with X-linked Charcot-Marie-Tooth disease. Genomic DNA from venous blood samples was prepared. The coding sequence of the GJB1 gene was amplified from genomic DNA. PCR products were analyzed by single strand conformational poly-morphism (SSCP) method. The PCR product having an abnormal pattern was sequenced to detect the mu-tation. It was found that the samples of all patients and one little girl with normal phenotype showed an abnormal SSCP band, but not detected in the other unaffected members in the first large family. In the second small family, an abnormal SSCP band was found in all the patients, but not detected in the unaf-fected member. The result of DNA sequencing demonstrated that both families had a same mutation of 622G→A, which resulted in a substitution of Glu208Lys. This mutation has not been reported previously in China.