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目的:探讨4个脊髓小脑性共济失调(SCA)家系的临床特征、基因诊断和鉴别诊断。方法:采用聚合酶链式反应(PCR)和琼脂糖凝胶电泳等技术对临床诊断为脊髓小脑性共济失调的4个家系8例患者及8名健康对照者进行相关SCA基因的诊断与分析,对异常等位基因片段进行DNA测序观察CAG三核苷酸重复次数,分析临床表现与基因突变的关系。结果:证实4个SCA家系分别为SCA1,SCA2,SCA3,SCA7亚型家系,4例先证者致病基因ATXN内CAG重复数分别为48次、43次、61次、63次。结论:基因检测确定4个SCA家系的亚型,其致病原因均为ATXN基因内CAG三核苷酸的重复异常扩增,基因检测有助于SCA诊断与分型。
Objective: To investigate the clinical features, gene diagnosis and differential diagnosis of four Spinocerebellar ataxia (SCA) pedigrees. Methods: The SCA gene was diagnosed and analyzed in 8 patients of 4 pedigrees and 8 healthy controls diagnosed as spinocerebellar ataxia by polymerase chain reaction (PCR) and agarose gel electrophoresis , Abnormal allele fragments were sequenced DNA sequencing CAG trinucleotide repeat times, analyze the relationship between clinical manifestations and gene mutations. Results: Four SCA families were confirmed as SCA1, SCA2, SCA3 and SCA7 subfamilies, respectively. The number of CAG repeats in ATXN was 48 times, 43 times, 61 times and 63 times in 4 probands. CONCLUSIONS: The genotypes of four SCA pedigrees identified by genetic testing are all caused by the repeated abnormal amplification of CAG trinucleotide in ATXN gene. The genetic test is helpful for the diagnosis and classification of SCA.