安徽地区脊髓小脑性共济失调患者不同基因亚型分布频率的研究

Frequency of different gene subtypes of patients with spinocerebellar ataxia in Anhui region

目的研究安徽地区脊髓小脑性共济失调(SCA)患者各基因亚型的分布频率。方法以临床诊断为SCA的15个家系39例患者和20例散发患者为研究对象,PCR扩增SCA1、SCA2、SCA3和SCA6基因的三核苷酸重复(TNR)片段并行变性聚丙烯酰胺凝胶电泳估算TNR片段的重复次数,对异常者行DNA克隆测序证实。结果 SCA3基因亚型在SCA家系患者中的检出率为33.33%,总的检出率为28.81%;SCA1基因亚型在SCA家系患者中的检出率为6.67%,总的检出率11.86%,未检出SCA2和SCA6基因亚型的患者。结论 SCA3是安徽地区SCA患者中最常见的基因亚型,PCR结合变性聚丙烯酰胺凝胶电泳能快速、有效地筛选出SCA患者。

Objective To study the frequency of different gene subtype of patients with spinocerebellar ataxia（SCA） in Anhui region.Methods There were 39 patients with autosomal dominant SCA from 15 families and 20 sporadic SCA patients.The trinucleotide repeat（TNR） of SCA1,SCA2,SCA3 and SCA6 gene were amplificated by PCR.The numbers of TNR were estimated by denaturing polyacrylamide gel electrophoresis and confirmed by DNA sequencing.Results The detection rate of SCA3 gene subtype was 33.33% in SCA families and the total detection rate was 28.81% in all patients.The detection rate of SCA1 gene subtype was 6.67% in SCA families and the total detection rate was 11.86% in all patients.No SCA2 or SCA6 gene subtype were found in these patients.Conclusion SCA3 is the most commonsubtype for SCA patients in Anhui region.PCR combined with denaturing polyacrylamide gel electrophoresis can rapidly and effectively screen out SCA patients