Abstract
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. Key words: Spinocerebellar ataxia; Protein kinase C; Mutation; Chromatography high pressure liquid
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