CMTX: The same mutation Glu208Lys in the GJB1 gene was detected in 2 families

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Yi Chuan. 2007 Jul;29(7):800-4.

The same mutation Glu208Lys in the GJB1 gene was detected in 2

families with X-linked Charcot-Marie-Tooth disease

Song SJ, Song SJ, Yan M, Wang XZ, Zhang YZ, Zou JH, Zhong N.

1. Peking University Center of Medical Genetics, Beijing 100083,

China; 2. The Department of Medical Genetics, Peking University

Health Science Center, Beijing 100083, China

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.