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. 2001 Mar;68(3):782-7.
doi: 10.1086/318800. Epub 2001 Feb 9.

In Southern Africa, brown oculocutaneous albinism (BOCA) maps to the OCA2 locus on chromosome 15q: P-gene mutations identified

P Manga  1 , J Kromberg, A Turner, T Jenkins, M Ramsay
Affiliations

In Southern Africa, brown oculocutaneous albinism (BOCA) maps to the OCA2 locus on chromosome 15q: P-gene mutations identified

P Manga et al. Am J Hum Genet. 2001 Mar.

Abstract

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

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Figures

Figure 1
Figure 1
South African Bantu-speaking black subject with brown oculocutaneous albinism (BOCA).
Figure 2
Figure 2
Pedigrees and haplotype data of markers flanking the P gene. Marker order is shown in family 1 (telomere→centromere): D15S1048, D15S1019, D15S1533, 2.7-kb deletion, D15S219, and D15S156. The haplotypes in individuals marked with an asterisk (*) have been inferred from data obtained from other family members. Dashes within haplotypes indicate that a result was not obtained for that marker in that individual, but, in most cases, it can be inferred from other family members. Families 5 and 6 contain individuals affected with BOCA and OCA2.
See this image and copyright information in PMC

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References

Electronic-Database Information

    1. Draft Genome Browser, http://genome-test.cse.ucsc.edu/goldenPath/hgTracks.html (for marker distances)
    1. Genbank, http://www.ncbi.nlm.nih.gov/Genbank/ (for RP11-322N14 BAC [accession number AC017046])
    1. Genome Database, http://www.gdb.org/ (for primer sequences and marker order)
    1. Online Mendelian Inheritance in Man (OMIM), http://www.ncbi.nlm.nih.gov/Omim/ (for BOCA [MIM 203290]) - PubMed

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