以色列不同种族的眼皮肤白化病患者中酪氨酸酶基因的突变
Mutations of the tyrosinase gene in patients with oculocutaneous albinism from various ethnic groups in Israel.
作者信息
Gershoni-Baruch R, Rosenmann A, Droetto S, Holmes S, Tripathi R K, Spritz R A
机构信息
Department of Pediatrics and Medical Genetics, Rambam Medical Center, Haifa, Israel.
出版信息
Am J Hum Genet. 1994 Apr;54(4):586-94.
Abstract
We have analyzed the tyrosinase (TYR) gene in 38 unrelated patients with oculocutaneous albinism (OCA), derived from several different ethnic groups of the diverse population of Israel. We detected TYR gene mutations in 23 of the 34 patients with apparent type I (i.e., tyrosinase-deficient) OCA and in none of the patients with other clinical forms of albinism. Among Moroccan Jews with type IA (i.e., tyrosinase-negative) OCA, we detected a highly predominant mutant allele containing a missense substitution, Gly47Asp (G47D). This mutation occurs on the same haplotype as in patients from the Canary Islands and Puerto Rico, suggesting that the G47D mutation in these ethnically distinct populations may stem from a common origin.
摘要
我们分析了来自以色列不同种族群体的38例非亲缘性眼皮肤白化病（OCA）患者的酪氨酸酶（TYR）基因。在34例明显为I型（即酪氨酸酶缺乏型）OCA患者中，我们检测到23例存在TYR基因突变，而其他临床类型白化病患者均未检测到该突变。在IA型（即酪氨酸酶阴性）OCA的摩洛哥犹太人中，我们检测到一个高度占主导的突变等位基因，其包含一个错义替代，即甘氨酸47天冬氨酸（G47D）。该突变与加那利群岛和波多黎各患者的单倍型相同，这表明在这些种族不同的人群中，G47D突变可能源于共同的起源。
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