中国南方汉族遗传性脊髓小脑型共济失调患者蛋白激酶Cγ基因突变分析

Mutation analysis of protein kinase Cγ gene in hereditary spinocerebellar ataxia patients in southern Chinese Han nationality

目的探讨中国南方汉族遗传性脊髓小脑型共济失调（SCA）患者蛋白激酶Cγ（PRKCG）基因突变特点。方法应用聚合酶链反应结合变性高效液相色谱法（denaturing high performance liquid chromatography，DHPLC），对已经排除SCA1、2、3、6、7、8、10、12、17和齿状核-红核-苍白球-路易体萎缩的67例常染色体显性遗传SCA家系先证者进行PRKCG基因全编码区18个外显子及外显子一内含子交界区突变检测。结果本组SCA患者未检测到PRKCG基因致病突变，共发现4个单核苷酸多态（e．507A〉G，IVS15—41T〉C，纯合、杂合e．1941C〉T），其中e．507A〉G为新发现的罕见多态。结论PRKCG基因突变在中国大陆汉族SCA患者中可能罕见。

Objective To investigate the mutation characteristics of protein kinase Cγ （PRKCG） gene in hereditary spinocerebellar ataxia （SCA） patients in southern Chinese Han nationality. Methods The mutation analysis of all 18 exons including exon-intron junctions of PRKCG gene was carried out by polymerase chain reaction combined with denaturing high performance liquid chromatography （DHPLC） in 67 indexs of autosomal dominant cerebellar ataxia families. All patients were excluded for SCA1, 2, 3, 6, 7, 8, 10, 12, 17 and dentatorubral pallidoluysian atrophy. Results No pathogenic mutation in PRKCG gene was identified in this group of SCA patients. However four nucleotide polymorphisms were found （c. 507A〉G, IVS15 -41T 〉 C and c. 1941C 〉 T） and one of them （c. 507A 〉 G） was not reported previously. Conclusions Mutation of PRKCG gene may be rare in mainland Chinese SCA patients.