Familial amyloidotic polyneuropathy: a new transthyretin position 30 mutation (alanine for valine) in a family of German descent.
Familial amyloidotic polyneuropathy: a new transthyretin position 30 mutation (alanine for valine) in a family of German descent.
复制标题
家族性淀粉样变性多发性神经病：德国血统家族中的一种新的转甲状腺素蛋白 30 位突变（丙氨酸变为缬氨酸）。
DOI：
10.1111/j.1399-0004.1992.tb03635.x
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发表时间：
1992
影响因子：
3.5
通讯作者：
Skinner,M
中科院分区：
文献类型：
--
作者：
Jones,LA;Skare,JC;Cohen,AS;Harding,JA;Milunsky,A;Skinner,M
Jones LA, Skare JC, Cohen AS, Harding JA, Milunsky A, Skinner M.家族性淀粉样蛋白多发性神经病：一个新的转甲状腺素位置30突变（缬氨酸丙氨酸）在德国血统的家庭。临床医学杂志，1992,41:70-73。家族性淀粉样变性多神经病变（FAP）是淀粉样变性的主要遗传形式，通常与异常的甲状腺转甲状腺素（TTR）有关，以前称为白蛋白前。已经确定了几种与疾病相关的蛋白质变体，每种变体都具有不同的氨基酸替代和相关的DNA点突变。对一名患有这种疾病的患者的TTR基因进行了不对称扩增和直接测序，发现密码子30的第二碱基上有一个胸腺嘧啶替代的胞嘧啶，并在外显子2上产生了一个新的Cfo I限制性内切核酸酶位点。这种突变导致先前描述的在最终的TTR蛋白中丙氨酸取代缬氨酸。氨基酸突变分析表明，这是一个亲水性取代在疏水的核心位置。第30位的丙氨酸代表TTR中第30位的第二个FAP相关突变。
Jones LA, Skare JC, Cohen AS, Harding JA, Milunsky A, Skinner M. Familial amyloid polyneuropathy: a new transthyretin position 30 mutation (alanine for valine) in a family of German descent. Clin Genet 1992:41: 70–73.Familial amyloidotic polyneuropathy (FAP) is a dominantly inherited form of amyloidosis usually associated with an abnormal transthyretin (TTR), previously known as prealbumin. Several disease‐related variants of the protein, each with a different amino acid substitution and correlating DNA point mutation, have been identified. The TTR gene from a patient suffering from this disorder was asymmetrically amplified and directly sequenced, revealing a cytosine for thymine substitution in the second base of codon 30 and the creation of a novel Cfo I restriction endo‐nuclease site in exon 2. This mutation results in a previously undescribed substitution of an alanine for valine in the final TTR protein. Analysis of the amino acid mutation reveals it to be a hydrophilic substitution at a hydrophobic core position. Alanine at position 30 represents the second FAP‐associated mutation at position 30 in TTR.