中国人面肩肱型肌营养不良症(FSHD)基因移位和基因表型的相关性研究  

FSHD in Chinese population: Characteristics of translocation and genotype-phenotype correlation

作　　者：Wu Z.-Y. Wang Z.-Q. Murong S.-X. Wang N. 高中宝 

机构地区：[1]Department of Neurology, First Affiliated Hospital, Fujian Medical University, 20 Chazhong Road, Fuzhou 350005, China Dr.

出　　处：《世界核心医学期刊文摘（神经病学分册）》2005年第1期60-60,共1页Digest of the World Core Medical Journals:Clinical Neurology

摘　　要：Current studies of facioscapulohumeral muscular dystrophy (FSHD) are confined to the white population. The authors surveyed 110 healthy individuals and 27 families with FSHD including 55 patients and 74 relatives by pulsed field gel electrophoresis. The authors report the characteristics of translocation and genotype phenotype correlation, and their results indicate 4q to 10q translocation contributes to the occurrence of de novo mutation. This leads to a more severe phenotype in the Chinese population comparing to EcoRI allele sizes and the intersexual difference.Current studies of facioscapulohumeral muscular dystrophy (FSHD) are confined to the white population. The authors surveyed 110 healthy individuals and 27 families with FSHD including 55 patients and 74 relatives by pulsed field gel electrophoresis. The authors report the characteristics of translocation and genotype phenotype correlation, and their results indicate 4q to 10q translocation contributes to the occurrence of de novo mutation. This leads to a more severe phenotype in the Chinese population comparing to EcoRI allele sizes and the intersexual difference.

关 键 词：FSHD 基因表型 脉冲场凝胶电泳 报道基因 基因突变 性别差异 ECORI 

分 类 号：R746[医药卫生—神经病学与精神病学]