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

American Journal of Human Genetics

Volumn 68, Issue 3, 2001, Pages 782-787

  Manga, Prashiela ^a   Kromberg, Jennifer G R ^a   Turner, Angela ^a   Jenkins, Trefor ^a   Ramsay, Michele ^a  

^a UNIVERSITY OF THE WITWATERSRAND   (South Africa)

Author keywords

[No Author keywords available]

Indexed keywords

TYROSINE;

AFRICA; ALLELISM; ARTICLE; CHROMOSOME 15Q; CHROMOSOME MAP; CLINICAL ARTICLE; FEMALE; GENE LOCUS; GENE MUTATION; GENETIC LINKAGE; HAPLOTYPE; HUMAN; MALE; MARKER GENE; OCULOCUTANEOUS ALBINISM; PHENOTYPE; PRIORITY JOURNAL;

BOCA;

EID: 0035092237     PISSN: 00029297     EISSN: None     Source Type: Journal    
DOI: 10.1086/318800     Document Type: Article

References (20)

1. Mutation in and lack of expression of tyrosinase-related protein-1 (TRP-1) in melanocytes from an individual with brown oculocutaneous albinism: A new sub-type of albinism classified as "OCA3."
2. Dinucleotide repeat polymorphism at the human TYRP1 locus
3. African origin of an intragenic deletion of the human P gene in tyrosinase positive oculocutaneous albinism
4. The tyrosinase-positive oculocutaneous albinism gene shows locus homogeneity on chromosome 15q11-q13 and evidence of multiple mutations in southern African negroids
5. Identification of P gene mutations in individuals with oculocutaneous albinism in sub-Saharan Africa
6. Albinism in Nigeria with delineation of a new recessive oculocutaneous type
7. Segregation analysis of brown oculocutaneous albinism
8. Red or rufous albinism in Southern Africa
9. Molecular dissection of the Prader-Willi/Angelman syndrome region (q11-q13) by YAC cloning and FISH analysis
10. Organization and sequence of the human P gene and identification of a new family of transport proteins
11. Rufous oculocutaneous albinism in southern African Blacks is caused by mutations in the TYRP1 gene
12. Dinucleotide repeat polymorphism at the human tyrosinase gene
13. A complete YAC contig of the Prader-Willi/Angelman chromosome region (15q11-q13) and refined localization of the SNRPN gene
14. Restriction fragment length polymorphisms within proximal 15q and their use in molecular cytogenetics and the Prader-Willi syndrome
15. Highly polymorphic locus D15S24 (CMW-1) maps to 15pter-q13
16. A gene for the mouse pink-eyed dilution locus and for human type II oculocutaneous albinism
17. Anomalies of pigmentation among natives of Nyasaland: A contribution to the study of albinism
18. Oculocutaneous albinism (OCA2) in sub-Saharan Africa: Distribution of the common 2.7-kb deletion mutation
19. Assignment of the tyrosinase-related protein-2 gene (TYRP2) to human chromosome 13q31-q32 by fluorescence in situ hybridisation: Extended synteny with mouse chromosome 14