title: Type 2 oculocutaneous albinism (OCA2) in Zimbabwe and Cameroon: distribution of the 2.7-kb deletion allele of the P gene.
abstract: In previous studies, we characterized a 2.7-kb interstitial deletion allele of the P gene associated with tyrosinase-positive oculocutaneous albinism (OCA2) in African Americans and Africans. In this study, we investigated the frequency of this allele among OCA2 subjects in two African countries, Zimbabwe and Cameroon. The deletion allele was most common in Zimbabwe, comprising nearly all (92%) mutant alleles, which is the highest incidence reported so far. In addition, the deletion allele was widespread but less common among OCA2 Cameroonians and accounted for 65% of the mutant alleles.
authors.affiliation: Institute for Cancer Research, Fox Chase Cancer Center, Philadelphia, PA 19111, USA.
authors.forename: N
authors.initials: N
authors.lastname: Puri
authors.forename: D
authors.initials: D
authors.lastname: Durbam-Pierre
authors.forename: R
authors.initials: R
authors.lastname: Aquaron
authors.forename: P M
authors.initials: PM
authors.lastname: Lund
authors.forename: R A
authors.initials: RA
authors.lastname: King
authors.forename: M H
authors.initials: MH
authors.lastname: Brilliant
mesh_terms: D016115:Albinism, Oculocutaneous / Q000208:ethnology* / Q000235:genetics*; D000483:Alleles; D002163:Cameroon; D002352:Carrier Proteins / Q000235:genetics*; D017353:Gene Deletion; D005787:Gene Frequency; D006801:Humans; D008565:Membrane Proteins / Q000235:genetics*; D026901:Membrane Transport Proteins; D016133:Polymerase Chain Reaction / Q000379:methods; D015030:Zimbabwe
chemical_list: D002352:Carrier Proteins; D008565:Membrane Proteins; D026901:Membrane Transport Proteins; C489600:OCA2 protein, human