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目的研究中国大陆南方正常人群齿状核红核苍白球路易体萎缩(DRPLA)基因(以CAG)n正常变异范围,以及DRPLA基因(CAG)n扩展突变在中国大陆脊髓小脑型共济失调(SCA)患者中的分布。方法应用荧光PCR,毛细管电泳等技术,对67个已经排除了SCA1、SCA2、SCA3、SCA6、SCA7的常染色体显性遗传SCA家系的先证者和66个散发SCA患者以及94个南方正常汉族人进行DRPLA基因CAG重复次数分析。结果未发现DRPLA基因(CAG)n扩展突变；DRPLA基因(CAG)n正常变异范围为5～21个拷贝,15个拷贝最多见,杂合频率为89．13%,共14种等位基因。结论DRPLA在中国大陆为罕见的SCA亚型,DRPLA基因(CAG)n正常变异范围存在地区和种族差异,中国大陆DRPLA发病率低可能同正常国人较大重复次数的等位基因少见有关。
Objective To investigate the normal variation range of DRAG gene (CAG) n in dentate nucleus pulposus nucleus dendritic nucleus (SNP) of normal population in South China mainland and the splicing of cerebellar ataxia (SCA) in mainland China ) In patients. Methods Sixty - seven probands of SCA1, SCA2, SCA3, SCA6 and SCA7 families with autosomal dominant SCA pedigrees and 66 sporadic SCA patients as well as 94 southern Chinese normal Han population were analyzed by fluorescence PCR and capillary electrophoresis. DRAG gene CAG repeat count analysis. The results showed that no mutation was found in DRAG gene CAG. The normal mutation range of DRAG gene CAG was 5-21 copies, 15 copies were the most common, and the frequency of heterozygosity was 89.13%. A total of 14 alleles were found. Conclusions DRPLA is a rare subtype of SCA in mainland China. There are regional and ethnic differences in the normal variation range of DRAG gene n (CAG) n. The low incidence of DRPLA in mainland China may be related to the rare alleles of larger repeat number in normal people.