Durham-Pierre D, Gardner J M, Nakatsu Y, King R A, Francke U, Ching A, Aquaron R, del Marmol V, Brilliant M H
Institute for Cancer Research, Fox Chase Cancer Center, Philadelphia, Pennsylvania 19111.
Nat Genet. 1994 Jun;7(2):176-9. doi: 10.1038/ng0694-176.
Oculocutaneous albinism (OCA) is a genetically heterogeneous hypopigmentation disorder. One of the two major autosomal recessive forms involves the tyrosinase gene (OCA1), while the other form (OCA2) has recently been associated with alterations of the P gene on chromosome 15. OCA2 is about twice as common as OCA1 in African and African-American populations. We now describe an interstitial deletion that removes a single exon of the P gene. In a large family from an inbred population of tri-racial origin, all individuals with OCA2 were found to be homozygous for this allele. Moreover, the same mutant P allele was detected in several unrelated African American individuals with OCA2, but not in Caucasians with OCA2. The detection of the same allele in two unrelated Africans with OCA2 indicates an African origin for this allele.
眼皮肤白化病（OCA）是一种具有遗传异质性的色素减退症。两种主要的常染色体隐性遗传形式之一涉及酪氨酸酶基因（OCA1），而另一种形式（OCA2）最近被发现与15号染色体上P基因的改变有关。在非洲和非裔美国人中，OCA2的发病率约为OCA1的两倍。我们现在描述一种间隙缺失，它去除了P基因的一个外显子。在一个来自具有三元种族起源的近亲群体的大家庭中，所有患有OCA2的个体均被发现该等位基因为纯合子。此外，在几个患有OCA2的无关非裔美国人个体中检测到相同的突变P等位基因，但在患有OCA2的白种人中未检测到。在两个患有OCA2的无关非洲人中检测到相同的等位基因，表明该等位基因起源于非洲。
