TYPE-2 OCULOCUTANEOUS ALBINISM (OCA2) IN ZIMBABWE AND CAMEROON - DISTRIBUTION OF THE 2.7-KB DELETION ALLELE OF THE P GENE

Authors
PURI N DURHAMPIERRE D AQUARON R LUND PM KING RA BRILLIANT MH
Citation
N. Puri et al., TYPE-2 OCULOCUTANEOUS ALBINISM (OCA2) IN ZIMBABWE AND CAMEROON - DISTRIBUTION OF THE 2.7-KB DELETION ALLELE OF THE P GENE, Human genetics, 100(5-6), 1997, pp. 651-656
Citations number
29
Categorie Soggetti
Genetics & Heredity
Journal title
Human genetics → ACNP
ISSN journal
03406717
Volume
100
Issue
5-6
Year of publication
1997
Pages
651 - 656
Database
ISI
SICI code
0340-6717(1997)100:5-6<651:TOA(IZ>2.0.ZU;2-S
Abstract
In previous studies, we characterized a 2.7-kb interstitial deletion a llele 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 A frican 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 al lele was widespread but less common among OCA2 Cameroonians and accoun ted for 65% of the mutant alleles.