Puri N, Durbam-Pierre D, Aquaron R, Lund P M, King R A, Brilliant M H
Institute for Cancer Research, Fox Chase Cancer Center, Philadelphia, PA 19111, USA.
Hum Genet. 1997 Oct;100(5-6):651-6. doi: 10.1007/s004390050568.
In previous studies, we characterized a 2.7-kb interstitial deletion allele of the P gene associated with tyrosinase-positive oculocutaneous albinism (OCA2) in African Americans and Africans. In this study, we investigated the frequency of this allele among OCA2 subjects in two African countries, Zimbabwe and Cameroon. The deletion allele was most common in Zimbabwe, comprising nearly all (92%) mutant alleles, which is the highest incidence reported so far. In addition, the deletion allele was widespread but less common among OCA2 Cameroonians and accounted for 65% of the mutant alleles.
在之前的研究中，我们鉴定出一个与非裔美国人和非洲人中酪氨酸酶阳性的眼皮肤白化病（OCA2）相关的P基因2.7 kb间质性缺失等位基因。在本研究中，我们调查了该等位基因在津巴布韦和喀麦隆这两个非洲国家的OCA2患者中的频率。该缺失等位基因在津巴布韦最为常见，几乎构成了所有（92%）的突变等位基因，这是迄今为止报道的最高发病率。此外，该缺失等位基因在喀麦隆的OCA2患者中广泛存在但相对少见，占突变等位基因的65%。
