[Analysis of spinocerebellar ataxia type 31 related mutations among patients from mainland China].
[Analysis of spinocerebellar ataxia type 31 related mutations among patients from mainland China].
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DOI：
10.3760/cma.j.issn.1003-9406.2018.03.001
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发表时间：
2018-06-10
期刊：
影响因子：
--
通讯作者：
Wang, Junling
中科院分区：
文献类型：
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作者：
Yang, Ke;Zeng, Sheng;Wang, Junling
目的：了解中国大陆患者脊髓小脑性共济失调31型（SCA31）相关突变的发生频率。方法：对295例SCA患者（包括常染色体显性SCA家族的98个先显子和197个散发性病例）和81例遗传性痉挛性截瘫（HSP）患者（包括常染色体显性HSP家族的23个先显子和58个散发性病例），采用重复引物PCR和毛细管凝胶电泳检测BEAN/TK2基因TGGAA五核苷酸扩增插入突变。结果：在上述队列中未发现BEAN/TK2基因中TGGAA五核苷酸插入扩增。结论：SCA31是一种极为罕见的SCA亚型，不应纳入中国大陆地区的常规遗传筛查。
OBJECTIVE: To determine the frequency of spinocerebellar ataxia type 31 (SCA31) related mutations among patients from mainland China.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 mainland China.