一名患有酪氨酸酶阴性（IA型）眼皮肤白化病的美国黑人中酪氨酸酶基因突变纯合子。
Homozygous tyrosinase gene mutation in an American black with tyrosinase-negative (type IA) oculocutaneous albinism.
作者信息
Spritz R A, Strunk K M, Hsieh C L, Sekhon G S, Francke U
机构信息
Department of Medical Genetics, University of Wisconsin-Madison.
出版信息
Am J Hum Genet. 1991 Feb;48(2):318-24.
Abstract
We have identified a tyrosinase gene mutation in an American black with classic, tyrosinase-negative oculocutaneous albinism. This mutation results in an amino acid substitution (Cys----Arg) at codon 89 of the tyrosinase polypeptide. The proband is homozygous for the substitution, suggesting that this mutation may be frequently associated with tyrosinase-negative oculocutaneous albinism in blacks.
摘要
我们在一名患有典型酪氨酸酶阴性眼皮肤白化病的美国黑人中发现了一种酪氨酸酶基因突变。该突变导致酪氨酸酶多肽第89位密码子处的氨基酸替换（半胱氨酸→精氨酸）。先证者对此替换为纯合子，提示该突变可能在黑人酪氨酸酶阴性眼皮肤白化病中常见。
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