我国南方汉族人脊髓小脑性共济失调不同基因亚型的频率分布

Frequency of different subtype of spinocerebellar ataxia in Hans of South China

目的 研究分析我国南方汉族人脊髓小脑性共济失调 (SCA)不同基因亚型的分布状况。方法 对临床诊断为SCA的 36个家系 4 3例患者和散发 38例患者 ,采用聚合酶链反应 (PCR)对SCA病的三核苷酸重复 (TNR)片段进行扩增 ,并用聚丙烯酰胺凝胶电泳和图像分析软件计算其长度 ,推算所有正常和异常扩增等位基因内TNR重复次数。结果 我国南方汉族人群的SCA患者中SCA3是最常见的类型 ,占 4 2 0 % ,而SCA2、SCA1、SCA7、SCA6和SCA12型分别为 7 4 %、4 9%、3 7%、2 5 %和 1 2 % ,未检出SCA8、SCA10、SCA17、DRPLA和FRDA亚型。结论 在家族性和散发性SCA患者中 ,SCA3为最常见类型 ,PCR检测可确立大部分患者的基因亚型。

Objective To study the frequency of different subtype of spinocerebellar ataxia (SCA) in Hans of South China Methods There were 43 patients with autosomal dominant SCA from 36 families, 38 sporadic SCA patients The trinucleotide repeats were detected by polymerase chain reaction (PCR), denaturing polyacrylamide gel electrophoresis and silver staining techniques The repeat number was caculated respectively Results The Machado-Joseph disease/SCA3 was the most common type of autosomal dominant SCA in the Hans of South China which was 420% and followed by SCA2 (74%), SCA1 (49%), SCA7 (37%), SCA6 (25%), SCA12 (12%) The number of patients were not included in SCA8, SCA10, SCA17, dentatorubropallidoluysian atrophy (DRPLA) and Friedreich ataxia (FRDA) Conclusions SCA3 is the most familiar subtype The molecular genetic detection is an effective way for confirmation of clinic diagnosis