Frequent intragenic deletion of the P gene in Tanzanian patients with Type II oculocutaneous albinism (OCA2)

Journal Article · Thu Jun 01 04:00:00 EDT 1995 · American Journal of Human Genetics

OSTI ID:91187

Spritz, R; Fukai, K; Holmes, S A ^[1]

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1. Univ. of Wisconsin, Madison, WI (United States); and others

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. 20 refs., 2 figs.

• OSTI ID: 91187
• Journal Information: American Journal of Human Genetics, Journal Name: American Journal of Human Genetics Journal Issue: 6 Vol. 56; ISSN AJHGAG; ISSN 0002-9297
• Country of Publication: United States
• Language: English

Related Subjects

55 BIOLOGY AND MEDICINE
BASIC STUDIES
AMINO ACID SEQUENCE
GENE MUTATIONS
GENES
HEREDITARY DISEASES
PATIENTS
RECESSIVE MUTATIONS
SKIN DISEASES
TANZANIA