Jones L A, Skare J C, Harding J A, Cohen A S, Milunsky A, Skinner M
Department of Medicine, Boston City Hospital, MA.
Am J Hum Genet. 1991 May;48(5):979-82.
Familial amyloidotic polyneuropathy (FAP) is associated with the deposition of an abnormal transthyretin (TTR) molecule. We have studied DNA from a family of Greek descent with FAP. The proband's TTR gene was asymmetrically amplified by using PCR and then was sequenced directly, to reveal a cytosine-for-guanine substitution in codon 36. This substitution removes a recognition site for endonuclease Fnu4HI. Allele-specific PCR was employed for diagnosis of the mutation. The predicted amino acid change of alanine to proline at position 36 was confirmed by protein sequencing of the proband's plasma TTR.
家族性淀粉样多神经病（FAP）与异常转甲状腺素蛋白（TTR）分子的沉积有关。我们研究了一个希腊裔FAP家族的DNA。先证者的TTR基因通过聚合酶链反应（PCR）进行不对称扩增，然后直接测序，结果显示第36密码子处胞嘧啶取代了鸟嘌呤。这种取代消除了核酸内切酶Fnu4HI的识别位点。采用等位基因特异性PCR对该突变进行诊断。先证者血浆TTR的蛋白质测序证实了第36位氨基酸由丙氨酸预测性地变为脯氨酸。
