一种与家族性淀粉样多神经病相关的新型转甲状腺素蛋白变体（丝氨酸24）
A new transthyretin variant (Ser 24) associated with familial amyloid polyneuropathy.
作者信息
Uemichi T, Gertz M A, Benson M D
机构信息
Department of Medicine, Indiana University School of Medicine, Indianapolis, USA.
出版信息
J Med Genet. 1995 Apr;32(4):279-81. doi: 10.1136/jmg.32.4.279.
Abstract
An American kindred with systemic amyloidosis presenting with carpal tunnel syndrome, peripheral neuropathy, and cardiomyopathy is reported. The transthyretin gene of a patient was analysed by direct DNA sequencing and both cytosine and thymine were present at the first base of codon 24. This new point mutation in exon 2 results in the amino acid substitution of serine for proline in the A-B loop of the transthyretin molecule. DNA testing for this mutant allele by restriction fragment length polymorphism analysis based on the polymerase chain reaction is described.
摘要
报道了一个患有系统性淀粉样变性的美国家族，其表现为腕管综合征、周围神经病变和心肌病。通过直接DNA测序分析了一名患者的转甲状腺素蛋白基因，密码子24的第一个碱基同时存在胞嘧啶和胸腺嘧啶。外显子2中的这个新的点突变导致转甲状腺素蛋白分子A-B环中的脯氨酸被丝氨酸氨基酸取代。描述了基于聚合酶链反应通过限制性片段长度多态性分析对该突变等位基因进行DNA检测的方法。
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