In Southern Africa, Brown Oculocutaneous Albinism (BOCA) Maps to the OCA2 Locus on Chromosome 15q: P-Gene Mutations Identified

摘要: In southern Africa, brown oculocutaneous albinism (BOCA) is a distinct pigmentation phenotype. at least two cases, it has occurred in the same families as tyrosinase-positive (OCA2), suggesting that may be allelic, despite fact this phenotype was attributed to mutations TYRP1 gene an American individual of mixed ancestry. Linkage analysis five mapped BOCA locus region OCA2 (maximum LOD 3.07; θ=0 using six-marker haplotype). Mutation human homologue mouse pink-eyed dilution (P), 10 unrelated individuals with revealed 9 had one copy 2.7-kb deletion. No other were identified. Additional haplotype studies, based on closely linked markers (telomere centromere: D15S1048, D15S1019, D15S1533, P-gene deletion, D15S219, and D15S156) several BOCA-associated P haplotypes. These could divided into core haplotypes, limited number give rise