一种与淀粉样多神经病相关的新型突变体（转甲状腺素蛋白Ile-50）。单链构象多态性作为一种新的遗传标记。
A novel mutant (transthyretin Ile-50) related to amyloid polyneuropathy. Single-strand conformation polymorphism as a new genetic marker.
作者信息
Saeki Y, Ueno S, Takahashi N, Soga F, Yanagihara T
机构信息
Department of Neurology, Osaka University Medical School, Japan.
出版信息
FEBS Lett. 1992 Aug 10;308(1):35-7. doi: 10.1016/0014-5793(92)81044-m.
DNA sequence polymorphisms in transthyretin (TTR) genes were investigated by single-strand conformation polymorphism (SSCP) analysis of polymerase chain reaction products. The amplified DNA fragments that encode each exon of the normal TTR gene showed two bands, representing the two complementary single strands of DNA. In one patient with amyloid polyneuropathy, the exon 3 DNA showed a unique, aberrant migration pattern. Direct sequencing analysis of the amplified exon 3 revealed a single base change (G-to-T), resulting in a novel amino acid substitution (Ser-50----Ile). We also present the SSCP patterns for five known Japanese TTR variants.
通过对聚合酶链反应产物进行单链构象多态性（SSCP）分析，研究了转甲状腺素蛋白（TTR）基因中的DNA序列多态性。编码正常TTR基因每个外显子的扩增DNA片段显示出两条带，代表DNA的两条互补单链。在一名患有淀粉样多神经病的患者中，外显子3 DNA呈现出独特的异常迁移模式。对扩增的外显子3进行直接测序分析发现了一个单碱基变化（G到T），导致了一种新的氨基酸替代（Ser-50变为Ile）。我们还展示了五个已知日本TTR变体的SSCP模式。
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