先天性肌强直一家系CLCN1基因突变的研究  

Study of CLCN1 gene mutations in a family with myotonia congenital

作　　者：孔令恩[1] 吴倩仪[1] 沈岩松[1] 何小诗[1] 易咏红[1] 

机构地区：[1]广州医学院第二附属医院神经内科,510260

出　　处：《临床神经病学杂志》2012年第6期407-409,共3页Journal of Clinical Neurology

摘　　要：目的探讨先天性肌强直一家系CLCN1基因的突变方式。方法采用PCR方法对1个先天性肌强直家系中的先证者、其祖母、父母、弟弟以及100名无血缘关系健康对照者的CLCN1基因全部外显子进行DNA测序。结果先证者CLCN1基因第8及11号外显子各发现1个错义突变,分别是c.950G→A和c.1205C→T。其父亲有c.950G→A突变,其母亲有c.1205C→T突变。其弟及100名健康对照者未见上述突变。结论 CLCN1基因c.950G→A和c.1205C→T错义突变是该家系CLCN1基因的致病性突变。Objective To identify the mutations of CLCN1 gene in a family with myotonia congenital.Methods All exons of the CLCN1 gene were sequenced by PCR in the proband and his grandmother,parents,brother and 100 unrelated healthy individuals.Results There were two missense mutations c.950G→A and c.1205C→T located in exon 8 and 11 of CLCN1 gene respectively were identified in the proband.The missense mutations c.950G→A also was found out in his father and c.1205C→T was found out in his mather.Both mutations were not found out in his brother and the normal controls.Conclusion The missense mutations of c.950G→A and c.1205C→T in CLCN1 gene are the disease-causing mutations of this family.

关 键 词：先天性肌强直 CLCN1基因 错义突变 

分 类 号：R746[医药卫生—神经病学与精神病学]