The tyrosinase-positive oculocutaneous albinism locus maps to chromosome 15q11.2-q12.
The tyrosinase-positive oculocutaneous albinism locus maps to chromosome 15q11.2-q12.
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酪氨酸酶阳性眼皮肤白化病基因座定位于染色体 15q11.2-q12。
DOI：
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发表时间：
1992
影响因子：
9.8
通讯作者：
T. Jenkins
中科院分区：
文献类型：
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作者：
M. Ramsay;M. Colman;G. Stevens;E. Zwane;J. Kromberg;M. Farrall;T. Jenkins
酪氨酸酶阳性眼皮肤白化病(ty-pos OCA)是一种黑色素生物合成途径的常染色体隐性遗传病，是世界范围内最常见的白化病类型。在南部非洲讲班图语的黑人中，它的总体流行率约为1/3900。由于基本的生化缺陷尚不清楚，因此进行了与候选基因座、候选染色体区域和随机基因座的连锁研究。在15q11.2-q12的Prader-Willi/Angelman染色体区域，发现Ty-pos OCA基因座与两个任意的基因座D15S10和D15S13连锁。小鼠7号染色体上粉红色眼睛的稀疏位点p与人类染色体15q上的同源区域相接近，我们推测ty-pos OCA和p基因座是同源的。
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.