广西地区一家系先天性肌强直的临床资料和基因测定  

A Myotonia Congenita Clinical Data and Genetic Determination from Guangxi

作　　者：廖海羚[1] 王进[1] 薛丽虹[2] 周家彬[2] 黄坚毅[2] 

机构地区：[1]广西医科大学第一附属医院神经内科,530021 [2]广西医科大学,530021

出　　处：《中国临床神经科学》2013年第4期429-432,437,共5页Chinese Journal of Clinical Neurosciences

基　　金：广西自然科学基金资助项目(编号:桂科自0728147)

摘　　要：目的探讨先天性肌强直(MC)一家系的临床特点及CLCN1基因部分外显子位点突变的情况。方法收集广西壮族自治区1例MC患者的临床及家系资料,提取家系成员和对照组(无血缘关系的健康体检者6名)的外周静脉血DNA,采用聚合酶链反应(PCR)扩增部分CLCN1基因,测定该基因第3、5、8、13、14、15、16号外显子序列,并对突变位点进行分析。结果 MC患者的6名家系和对照组成员的PCR扩增凝胶电泳分析表明,同一引物对应各样本条带均无显著差异;CLCN1基因被测序的第3、5、8、13、14、15、16号外显子序列均未发现有突变位点。结论该MC患者及家系中患者的MC致病基因位点未位于CLCN1基因这7个外显子序列上,需要对CLCN1基因全外显子序列进行检测分析。Aim To investigate the clinical features and some point mutations in exon of CLCN1 gene on a myotonia congenita（MC） family.Methods The clinical data of the MC family in Guangxi were collected.The peripheral blood DNA on the family members and the controls（6 unrelated healthy） extracted.A part of CLCN1 gene was amplified with polymerase chain reaction（PCR）.The gene sequence on No.3,5,8,13,14,15,16 exons were determined and its mutations were analyzed.Results There was no significant difference among the results from the PCR amplification gel electrophoresis analysis of the family members and the control group members.The sequencing results indicated that no mutations were found on No.3,5,8,13,14,15,16 exons of CLCN1 gene.Conclusion MC pathogenicity locus in this family might not be located in the above seven exons of CLCN1 gene,all exon sequences of CLCN1 gene needed to be detected and analyzed.

关 键 词：先天性肌强直 遗传 氯离子通道 基因 突变 

分 类 号：R746[医药卫生—神经病学与精神病学]