在两个X连锁显性腓骨肌萎缩症家系中发现同一GJB1基因突变Glu208Lys.pdfVIP

HEREDITAS (Beijing) 2007 7 , 29(7): 800804 ISSN 0253-9772 DOI: 10.1360/yc-007-0800 X GJB1 Glu208Lys 1,2, 1,2, 1,2, 1,2, 1,2, 1,2,3 1. , 100083; 2. , 100083; 3. , , : X (Charcot-Marie-Tooth disease, CMT) GJB1 DNA, PCR(polymerase chain reaction) GJB1 , (single strand conformational polymorphism, SSCP), SSCP PCR , GJB1 c.622G→A (Glu208Lys) : ; X-; GJB1 ; The same mutation Glu208Lys in the GJB1 gene was detected in 2 families with X-linked Charcot-Marie-Tooth disease SONG Shu-Juan1,2, YAN Ming1,2, WANG Xiao-Zhu1,2, ZHANG Yuan-Zhi1,2, ZOU Jun-Hua1,2, Nanbert ZHONG1,2,3 1. Peking University Center of Medical Genetics, Beijing 100083, China; 2. The Department of Medical Genetics, Peking University Health Science Center, Beijing 100083, China; 3. Department of Human Genetics, New York State Institute for Basic Research , Staten Island, NY, USA 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