脊髓小脑共济失调3型一家系临床特点及分子遗传学研究  

The study of clinical characteristics and molecular genetics in a large spinocerebellar ataxia3 pedigree

作　　者：黄月[1] 夏明荣 任秀花[2] 贺爽[1] 张杰文[1] 

机构地区：[1]河南省人民医院神经内科,郑州450003 [2]郑州大学人体解剖学教研室,郑州450003

出　　处：《中华医学杂志》2015年第25期1990-1993,共4页National Medical Journal of China

基　　金：河南省科技厅重点卫生科技攻关项目（122102310159）;河南省卫生厅医学科技攻关项目（201203095）

摘　　要：目的 对一脊髓小脑共济失调家系患者及“健康”个体进行基因突变检测及分析,以探讨该家系的临床特点及分子遗传学特征.方法 对2012年河南省人民医院神经内科门诊收集,临床诊断为脊髓小脑共济失调（SCA）一大家系的9例患者及27名健康个体,应用聚合酶链反应（PCR）对该家系SCA3基因编码区内CAG三核苷酸片段进行扩增,然后经聚丙烯酰胺凝胶电泳检测PCR产物及对PCR产物进行测序,直接读取该家系患者及健康个体的CAG三核苷酸重复次数,从而进行基因诊断分型及对该家系患者的临床特点进行总结分析.结果 通过基因检测,该家系9例患者均为SCA3型,CAG重复次数为62 ～ 72次;27名健康个体中9例为症状前患者,CAG重复次数为63 ～ 69次;其他18名健康个体CAG重复次数为12～21次.结论 该家系确诊为SCA3家系.通过CAG三核苷酸重复数目检测可以对临床疑似患者进行确诊及分型,同时可为症状前患者的研究提供依据.Objective To investigate the clinical manifestations and gene mutations on a large spinocerebellar ataxia 3 pedigree,in order to explore the molecular genetical characteristics in this pedigree.Methods Blood samples from 9 patients and 27 healthy family members in the Department of Neurology of Henan Provincial People＇s Hospital were collected.The CAG trinucleotide repeats in SCA3 gene in each sample were amplified by polymerase chain reaction （PCR）,denaturing polyacrylamide gel electrophoresis and silver staining techniques.The allele fragments were sequenced by biomedical company and the trinucleotide repeats numbers were calculated to identify the genotype.Results Nine symptomatic and 9 presymptomatic patients were detected and their CAG repeat numbers were 62-72 and 63-69,respectively.CAG repeat numbers were 12-21 in the other 18 healthy family members.Conclusions We fould a large pedigree with the diagnosis of SCA3.The genetic tests of CAG repeat numbers can contribute to clinical diagnose on symptomatic patients and provide informations for presymptomatic patients.

关 键 词：脊髓小脑共济失调 三核苷酸重复 基因诊断 分子遗传学 

分 类 号：R744.7[医药卫生—神经病学与精神病学]