【摘 要】
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遗传性痉挛性截瘫(hereditary spastic Paraplegias,HSPs)是一种以双下肢进行性截瘫为主要临床特征的神经系统退行性疾病,具有高度的遗传和临床异质性.其主要的遗传方式有常染色体显性遗传(autosomal dominant,AD)、常染色体隐性遗传(autosomal recessive,AR)和X-连锁隐性遗传(x-linked recessive,XR)三种.目前已
【机 构】
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华中科技大学分子生物物理教育部重点实验室和生命科学与技术学院,武汉,430074 湖北省妇幼保健医
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遗传性痉挛性截瘫(hereditary spastic Paraplegias,HSPs)是一种以双下肢进行性截瘫为主要临床特征的神经系统退行性疾病,具有高度的遗传和临床异质性.其主要的遗传方式有常染色体显性遗传(autosomal dominant,AD)、常染色体隐性遗传(autosomal recessive,AR)和X-连锁隐性遗传(x-linked recessive,XR)三种.目前已定位了大约70个遗传位点,已克隆50个致病基因.其中遗传性痉挛性截瘫4型(spastic Paraplegia-4,SPG4)最为常见,占HSP的35％-45％,呈常染色体显性遗传方式. HSP-SPG4型是因为编码微管结合蛋白-spastin的SPAST基因突变引起,但具体致病机制仍不清楚.我们收集并鉴定来自河南五个回民自然村三个AD-HSP大家系,对这三个家系ADHSP致病基因进行连锁分析,发现SPAST与这三个家系疾病连锁,对该基因进行Sanger测序分析,发现SPAST基因外显子6一个新的插入突变(c.985_986insA),该突变导致SPAST编码的蛋白提前终止,可能产生无功能的截短蛋白.通过高分辨率熔解曲线验证这个突变与这三个家系疾病共分离,家系外验证200例回族正常样本,未发现SPAST基因的c.985_986 insA突变,说明该突变可能是导致这三个家系痉挛性截瘫的致病原因,该研究拓宽SPAST基因突变谱,为临床产前诊断奠定了基础.
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