酪氨酸酶阳性的眼皮肤白化病基因座定位于15号染色体q11.2-q12区域。
The tyrosinase-positive oculocutaneous albinism locus maps to chromosome 15q11.2-q12.
作者信息
Ramsay M, Colman M A, Stevens G, Zwane E, Kromberg J, Farrall M, Jenkins T
机构信息
Department of Human Genetics, School of Pathology, South African Institute for Medical Research, Johannesburg.
出版信息
Am J Hum Genet. 1992 Oct;51(4):879-84.
Abstract
Tyrosinase-positive oculocutaneous albinism (ty-pos OCA), an autosomal recessive disorder of the melanin biosynthetic pathway, is the most common type of albinism occurring worldwide. In southern African Bantu-speaking negroids it has an overall prevalence of about 1/3,900. Since the basic biochemical defect is unknown, a linkage study with candidate loci, candidate chromosomal regions, and random loci was undertaken. The ty-pos OCA locus was found to be linked to two arbitrary loci, D15S10 and D15S13, in the Prader-Willi/Angelman chromosomal region on chromosome 15q11.2-q12. The pink-eyed dilute locus, p, on mouse chromosome 7, maps close to a region of homology on human chromosome 15q, and we postulate that the ty-pos OCA and p loci are homologous.
摘要
酪氨酸酶阳性眼皮肤白化病（ty-pos OCA）是一种常染色体隐性遗传性黑色素生物合成途径疾病，是全球最常见的白化病类型。在非洲南部讲班图语的黑人中，其总体患病率约为1/3900。由于基本生化缺陷尚不清楚，因此开展了与候选基因座、候选染色体区域和随机基因座的连锁研究。发现ty-pos OCA基因座与15号染色体15q11.2-q12上普拉德-威利/安吉尔曼染色体区域的两个任意基因座D15S10和D15S13连锁。小鼠7号染色体上的粉红眼稀释基因座p，定位于与人类15号染色体q臂同源的区域，我们推测ty-pos OCA和p基因座是同源的。
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