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目的评价中国大陆汉族人群常染色体显性遗传脊髓小脑型共济失调(spinocerebellarataxia,SCA)各亚型包括SCA1、SCA2、SCA3/Machado-Joseph病(Machado-Josephdisease,MJD)、SCA6、SCA7、SCA8、SCA10、SCA12、SCA14、SCA17和齿状核红核苍白球路易氏体萎缩症(dentatorubro-pallidoluysianatrophy,DRPLA)的突变频率,并总结SCA6的临床和分子特征。方法对中国大陆120个常染色体显性遗传SCA家系和60例散发性SCA患者进行突变分析,并总结了4个SCA6家系13例患者的临床和分子特征。结果SCA3/MJD是中国大陆汉族人群中最常见的SCA亚型,共发现59个家系83例患者(阳性率49.2%),其次还发现8个SCA2家系(6.7%)、7个SCA1家系(5.8%)、4个SCA6家系(3.3%)、1个SCA7家系(0.8%),未发现SCA8、SCA10、SCA12、SCA14、SCA17和DRPLA家系。有41个SCA家系(34.2%)不能进行基因分型。在60例散发性SCA患者中,有3例为SCA3基因突变,未发现有SCA6基因突变。4个SCA6家系有明显的遗传早现,但在代间传递过程中无遗传不稳定现象。结论首次在中国大陆汉族人群报道了SCA6亚型的突变频率。
Objective To evaluate the prevalence of SCA1, SCA2, SCA3 / Machado-Joseph disease (MJD), SCA6, SCA7, SCA8, SCA8 in Chinese Han population of China, SCA10, SCA12, SCA14, SCA17 and dentatorubro-pallidoluysianatrophy (DRPLA), and to summarize the clinical and molecular features of SCA6. Methods The mutations of 120 autosomal dominant SCA pedigrees and 60 sporadic SCA patients in mainland China were analyzed. The clinical and molecular features of 13 SCA6 pedigrees were summarized. Results SCA3 / MJD was the most common subtypes of SCA in Chinese Han population. A total of 83 families (59.2%) were found in 59 families, followed by 8 SCA2 (6.7%), 7 SCA1 %), 4 SCA6 pedigrees (3.3%) and 1 SCA7 pedigree (0.8%). No SCA8, SCA10, SCA12, SCA14, SCA17 and DRPLA pedigrees were found. There are 41 SCA pedigrees (34.2%) that can not be genotyped. In 60 cases of sporadic SCA patients, 3 cases were SCA3 gene mutation, no SCA6 gene mutation was found. Four SCA6 pedigrees had obvious genetic premature, but there was no genetic instability in the intergenerational transmission. Conclusions The mutation frequency of SCA6 subtypes was first reported in Chinese Han population in mainland China.