Frequent intragenic deletion of the P gene in Tanzanian patients with type II oculocutaneous albinism (OCA2).
Frequent intragenic deletion of the P gene in Tanzanian patients with type II oculocutaneous albinism (OCA2).
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DOI：
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发表时间：
1995-06
影响因子：
9.8
通讯作者：
R. Spritz;K. Fukai;S. A. Holmes;Jeffrey Luande
中科院分区：
文献类型：
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作者：
R. Spritz;K. Fukai;S. A. Holmes;Jeffrey Luande
II型眼皮肤白化病（OCA 2）是一种常染色体隐性遗传疾病，其中皮肤、毛发和眼睛中黑色素的生物合成减少。由P基因突变引起的OCA 2是非洲和非洲裔美国人患者中最常见的白化病类型。OCA 2在坦桑尼亚特别常见，发病率约为1/1，400。我们已经确定了13名来自坦桑尼亚的OCA 2患者的P基因异常。其中之一，外显子7的缺失，是强烈占主导地位，约占77%的突变等位基因在这组患者。
Type II oculocutaneous albinism (OCA2) is an autosomal recessive disorder in which the biosynthesis of melanin pigment is reduced in the skin, hair, and eyes. OCA2, which results from mutations of the P gene, is the most frequent type of albinism in African and African-American patients. OCA2 is especially frequent in Tanzania, where it occurs with an incidence of approximately 1/1,400. We have identified abnormalities of the P gene in each of 13 unrelated patients with OCA2 from Tanzania. One of these, a deletion of exon 7, is strongly predominant, accounting for approximately 77% of mutant alleles in this group of patients.