中国大陆遗传性脊髓小脑型共济失调患者PURATROPHIN-1基因c.-16C＞T突变研究

目的 研究中国大陆遗传性脊髓小脑型共济失调(spinocerebellar ataxia,scA)患者PURATROPHIN-1 c.-16C＞T突变分布.方法 应用聚合酶链反应.限制性片段长度多态技术,对已经排除了SCA1、SCA2、SCA3、SCA6、SCA7、SCA17和齿状核.红核.苍白球路易体萎缩的68个常染色体显性遗传SCA家系的先证者及119例散发SCA患者进行PURATROPHIN-1基因c.-16C＞T突变检测.结果 未发现PUPURATROPHIN-1基因c.-16C＞T突变.结论 PURATROPHIN-1基因c.-16C＞T突变在中国大陆SCA人群中罕见.

Study on the single-nucleotide substitution (c.-16C＞T)of the PURATROPHIN-1 gene on Chinese patients with spinocerebellar ataxia

Objective To study the single-nucleotide substitution (c.-16C＞T) of the PURATROPHIN-1 gene in spinocerebellar ataxia (SCA) patients in China.Methods The single-nucleotide substitution(c.-16 C＞T) of the PURATROPHIN-1 gene was detected by PCR,digested with EcoN I,separated on 8% polyacrylamide gel in 68 probands of autosomal dominant SCA families and 119 sporadic SCA patients,who had been excluded for CAG/CAA repeat expansion at the SCA1,2,3,6,7,17 and dentatorubral-pallidolluysian atrophy (DRPLA) loci.The results were confirmed in four patients by direet sequencing.Results The single-nucleotide substitution(c.-16C＞T)of the PURATROPHIN-1 gene was not identified in authors' cohort.Conclusion The mutation of c.-16C＞T of the PURATROPHIN-1 gene might be rare in SCA patients in China.