title: [The same mutation Glu208Lys in the GJB1 gene was detected in 2 families with X-linked Charcot-Marie-Tooth disease].
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 polymorphism (SSCP) method. The PCR product having an abnormal pattern was sequenced to detect the mutation. 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 unaffected 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.
authors.affiliation: 1. Peking University Center of Medical Genetics, Beijing 100083, China. shujuansong@gmail.com
authors.forename: Shu-Juan
authors.initials: SJ
authors.lastname: Song
authors.forename: Shu-Juan
authors.initials: SJ
authors.lastname: Song
authors.forename: Ming
authors.initials: M
authors.lastname: Yan
authors.forename: Xiao-Zhu
authors.initials: XZ
authors.lastname: Wang
authors.forename: Yuan-Zhi
authors.initials: YZ
authors.lastname: Zhang
authors.forename: Jun-Hua
authors.initials: JH
authors.lastname: Zou
authors.forename: Nanbert
authors.initials: N
authors.lastname: Zhong
mesh_terms: D001483:Base Sequence; D002607:Charcot-Marie-Tooth Disease / Q000235:genetics*; D041321:Chromosomes, Human, X / Q000235:genetics*; D017630:Connexins / Q000235:genetics*; D004252:DNA Mutational Analysis; D005260:Female; D006801:Humans; D008297:Male; D009154:Mutation; D010375:Pedigree; D016133:Polymerase Chain Reaction; D018807:Polymorphism, Single-Stranded Conformational; D000097002:Gap Junction beta-1 Protein
chemical_list: D017630:Connexins; D000097002:Gap Junction beta-1 Protein