An intragenic deletion of the P gene is the common mutation causing tyrosinase-positive oculocutaneous albinism in southern African Negroids.

摘要: Tyrosinase-positive oculocutaneous albinism (OCA2), an autosomal recessive disorder of the melanin biosynthetic pathway, is most common occurring in southern African Bantu-speaking Negroids, with overall prevalence 1/3,900. The OCA2 gene, P, has been mapped to chromosome 15q11-q13, and recently alterations P gene have identified individuals. An intragenic deletion described proposed be origin because its occurrence four unrelated American individuals two individuals, one from Zaire other Cameroon. This study shows that a cause Negroids (114/146 [.78]; chromosomes) associated haplotype (43/55 chromosomes), confirming this allele. On basis data, it would appear at least seven additional, less frequent mutations occur population.