A new mutation causing familial amyloidotic polyneuropathy.
A new mutation causing familial amyloidotic polyneuropathy.
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导致家族性淀粉样多发性神经病的新突变。
DOI：
10.1016/0006-291x(89)91802-0
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发表时间：
1989
影响因子：
3.1
通讯作者：
Skinner,M
中科院分区：
文献类型：
--
作者：
Skare,JC;Saraiva,MJ;Alves,IL;Skare,IB;Milunsky,A;Cohen,AS;Skinner,M
对1例家族性淀粉样多发性神经病患者的DNA进行了检测。它不具有任何以前被认为与家族性淀粉样多发性神经病相关的突变。然而，发现了一个新的7.0kb的sph I限制性内切酶片段，并将其突变定位于转甲状腺激素基因的外显子3。这一突变是从父母那里遗传来的，可能会导致用氨基酸替换Glu89、His90或ala91。患者转甲状腺素的PI低于正常甲状腺激素。
The DNA from an individual with familial amyloidotic polyneuropathy was examined. It did not possess any of the mutations which have previously been associated with familial amyloidotic polyneuropathy. However, a novel 7.0kb Sph I restriction fragment was discovered, and the mutation creating it was localized to exon 3 of the transthyretin gene. This mutation was inherited from a parent, and may result in an amino acid substitution for glu89, his90 or ala91. The patient's transthyretin has a lower pI than normal transthyretin.