一个日裔家族中与转甲状腺素蛋白Val30至Leu突变相关的家族性淀粉样多神经病。
Familial amyloid polyneuropathy related to transthyretin mutation Val30 to Leu in a Japanese family.
作者信息
Utsugisawa K, Tohgi H, Nagane Y, Yamagata M, Saito K, Mihara M
机构信息
Department of Neurology, Iwate Medical University, Morioka, Japan.
出版信息
Muscle Nerve. 1998 Dec;21(12):1783-5. doi: 10.1002/(sici)1097-4598(199812)21:12<1783::aid-mus24>3.0.co;2-o.
A rare variant transthyretin that has a leucine-for-valine substitution at position 30 was reported in a sporadic case of type 1 familial amyloid polyneuropathy (FAP). We found the same substitution in members of a Japanese family with FAP. Three individuals in this family had a guanine-to-cytosine mutation at the first base of codon 30 in exon 2. This family shows a direct link between a valine-to-leucine substitution at position 30 and type 1 FAP.
在1例散发性1型家族性淀粉样多神经病（FAP）病例中，报道了一种罕见的转甲状腺素蛋白变异体，其第30位的缬氨酸被亮氨酸取代。我们在一个患有FAP的日本家族成员中发现了相同的取代。该家族中的3名个体在第2外显子密码子30的第一个碱基处发生了鸟嘌呤到胞嘧啶的突变。这个家族显示了第30位缬氨酸到亮氨酸的取代与1型FAP之间的直接联系。
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