AFRICAN ORIGIN OF AN INTRAGENIC DELETION OF THE HUMAN-P GENE IN TYROSINASE POSITIVE OCULOCUTANEOUS ALBINISM
AFRICAN ORIGIN OF AN INTRAGENIC DELETION OF THE HUMAN-P GENE IN TYROSINASE POSITIVE OCULOCUTANEOUS ALBINISM
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DOI：
10.1038/ng0694-176
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发表时间：
1994-06-01
期刊：
影响因子：
30.8
通讯作者：
BRILLIANT, MH
中科院分区：
文献类型：
--
作者：
DURHAMPIERRE, D;GARDNER, JM;BRILLIANT, MH
眼皮肤白化病(OCA)是一种遗传性异质性色素减退疾病。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)最近被认为与15号染色体上的P基因改变有关。在非洲和非裔美国人中，OCA2的发病率约为OCA1的两倍。我们现在描述了一种间隙缺失，它移除了P基因的一个外显子。在一个来自三个种族起源的近亲交配群体的大家庭中，所有携带OCA2的个体都被发现是该等位基因的纯合子。此外，在几个患有OCA2的无关非裔美国人中也检测到了相同的突变P等位基因，但在患有OCA2的高加索人中没有检测到。在两名患有OCA2的无关非洲人中检测到相同的等位基因，表明该等位基因来自非洲。
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. Tn 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.