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

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

目的研究中国大陆遗传性脊髓小脑型共济失调（spinocerebellarataxia，SCA）患者PURATROPHIN-1 c.-16C〉T突变分布。方法应用聚合酶链反应一限制性片段长度多态技术，对已经排除了SCA1、sCA2、SCA3、SCA6、SCA7、SCA17和齿状核一红核一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PU-RATROPHIN-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。

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 thePURATROPHIN-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 direct sequencing. Results The single-nucleotide substitution（c. - 16C 〉 T）of the PU- RATROPHIN-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.