Haplotype analysis of the apolipoprotein E and apolipoprotein C1 loci in Portugal and Sao Tome e Principe (Gulf of Guinea): Linkage disequilibrium evidence that APOE*4 is the ancestral APOE allele

• Type: Article in International Scientific Journal
• Date: 1999

Authors

Seixas, S (Author) Other; Trovoada, MJ (Author) Other; Rocha, J (Author) FCUP

Journal

Title: Human Biology

Vol. 71

Pages: 1001-1008

ISSN: 0018-7143

Publisher: Wayne State University Press

Indexing

ISI Web of Knowledge - 28 Citations

Scopus - 28 Citations

Scientific classification

FOS: Natural sciences > Biological sciences

Other information

Authenticus ID: P-001-2NC

Abstract (EN): The joint distributions of phenotypes from the apolipoprotein E gene (APOE) and from a closely linked restriction site polymorphism at the apolipoprotein C1 locus (APOC1) were studied in population samples from Portugal and Sao Tome e Principe (Gulf of Guinea), a former Portuguese colony that was originally populated by slaves imported from the African mainland. The frequencies of the APOE alleles (*2, *3, and *4) in Portugal and Sao Tome fitted the ranges of variation generally observed in European and African populations, respectively. Haplotype analysis showed that in both populations the strength of linkage disequilibrium was highest for the APOE*2 allele and lowest for the APOE*4 allele, suggesting that the origin of the APOE alleles followed a 4 --> 3 --> 2 pathway and thus providing independent confirmation of the results from sequence homology studies with nonhuman primates. In accordance with global trends in the distribution of human genetic variation, the European sample from Portugal presented more intense linkage disequilibrium between APOE and APOC1 than the African sample from Sao Tome where, despite the short 4-kb distance that separates the 2 loci, the level of association between the APOC1 alleles and APOE*4 was nonsignificant.

Language: English

Type (Professor's evaluation): Scientific

No. of pages: 8