论文部分内容阅读
目的:研究分析脊髓小脑性共济失调2型(SCA2)的分子遗传学诊断、应用以及临床表现特征。方法:对来自广西地区临床诊断为SCA的1个家系2例患者和8名“健康”家系成员,以及35名正常对照人员,通过聚合酶链式反应、琼脂糖电泳等技术检测SCA2基因位点内CAG三核苷酸重复扩增次数,并对异常等位基因片段进行DNA测序。结果:我国广西正常人群SCA2等位基因CAG重复数为20～29次,1家系中2例患者与1例症状前患者存在SCA2(CAG)n扩展突变,拷贝数分别为42、45、55次。结论:首次发现广西SCA2,利用分子遗传学分析可进行SCA2基因诊断,为症状前诊断及遗传咨询提供依据。
Objective: To study the molecular diagnosis, application and clinical features of spinocerebellar ataxia type 2 (SCA2). Methods: Two SC1 gene families and two SC1 gene families from SCA families in Guangxi were enrolled in this study. SCA2 gene was detected by polymerase chain reaction and agarose gel electrophoresis in 35 healthy controls. CAG trinucleotide repeat amplification within the locus, and DNA sequencing of abnormal allele fragments. Results: The CAG repeat number of SCA2 allele in Guangxi normal population was 20 ~ 29 times. There were two SCA2 (CAG) n mutations in 2 patients and 1 patient before symptom. The copy numbers were 42, 45 and 55 times . Conclusion: The first discovery of Guangxi SCA2, molecular genetic analysis of SCA2 gene diagnosis can be used to provide the basis for the diagnosis of pre-symptoms and genetic counseling.