中国大陆SCA31亚型基因突变分析

Analysis of spinocerebellar ataxia type 31 related mutations among patients from China's Mainland

目的分析中国大陆脊髓小脑性共济失调31型（spinocerebellar ataxia type31，SCA31）的基因突变频率。方法应用多核苷酸重复引物PCR和毛细管凝胶电泳方法对295例基因诊断未明的SCA（98例常染色体显性遗传家系先证者，197例散发患者）和81例基因诊断未明的遗传性痉挛性截瘫（hereditary spastic paraplegia，HSP）（23例常染色体显性遗传家系先证者，58例散发患者）样本进行BEAN／TK2基因“TGGAA”五核苷酸重复的突变检测。结果所有样本均未检测到“TGGAA”五核苷酸重复插入序列。结论SCA31亚型在中国大陆十分罕见，因此不建议将其作为常规SCA亚型进行筛查。

Objective To determine the frequency of spinocerebellar ataxia type 31 （SCA31） related mutations among patients from China's Mainland. Methods For a cohort of molecularly unassigned patients comprised of 295 SCA patients （including 98 probands from families featuring autosomal dominant SCA and 197 sporadic cases） and 81 patients with hereditary spastic paraplegia （HSP）（including 23 probands from families with autosomal dominant HSP and 58 sporadic cases）, TGGAA pentanucleotide expansion insertional mutation of the BEAN/TK2 gene was detected using repeat-primed PCR followed by capillary gel electrophoresis. Results No TGGAA pentanucleotide insertion expansion in BEAN/TK2 gene was identified in the above cohort. Conclusion SCA31 is an extremely rare subtype of SCA and should not be included in routine genetic screening in China's Mainland.