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OALib Journal期刊
ISSN: 2333-9721
费用：99美元
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脊髓小脑性共济失调7型的分子遗传学诊断及临床分析
, PP. 62-65
Keywords: 脊髓小脑性共济失调,三核苷酸重复,动态突变,多聚谷氨酰胺
Abstract:
目的研究分析脊髓小脑性共济失调7型(sca7)的分子遗传学诊断、应用以及临床表现特征。方法对临床诊断为sca的36个家系43例病人、38例散发sca患者、60名家系“健康个体”以及44名非家系正常对照人员,通过pcr及聚丙烯酰胺凝胶电泳等技术检测sca7基因位点内cag三核苷酸重复扩增次数,并利用abi373测序仪对异常等位基因片段进行dna测序。结果我国南方正常人群sca7等位基因cag重复数为9~19。检出2个家族性、1个散发性共3例sca7患者,测序证实其异常等位基因内cag重复数目分别为65、65、63。结论sca7基因内部cag三核苷酸重复异常扩增是该病致病原因,利用分子遗传学分析可进行基因诊断,为症状前诊断及遗传咨询提供依据。
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