Frequent intragenic deletion of the P gene in Tanzanian patients with type II oculocutaneous albinism (OCA2).
case_series · Level IV
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- Record sourced from PubMed, PMID 7762554.
- Also identified by PMC identifier 1801108.
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Abstract
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.
Medical subject headings
- Albinism, Oculocutaneous
- Carrier Proteins
- Membrane Proteins
- Membrane Transport Proteins
- Mutation