Molecular polymorphism of O alleles in five populations of different ethnic origins

Francis Roubinet A2, Nathalie Kermarrec A2, Stéphanie Despiau A1, Pol-Andre Apoil A1, Jean Michel Dugoujon A3, Antoine Blancher A1

A1 Laboratoire d'Immunogénétique Moléculaire, Université Paul Sabatier, Hôpital Purpan, 1, Place du Docteur Baylac, 31059, Toulouse Cedex, France E-mail: Phone: +33-5-61779187 Fax: +33-5-61779059
A2 Laboratoire d'immunohématologie, Etablissement Français du Sang Pyrénées-Méditerranée, Avenue de Grande Bretagne, BP3210, 31027 Toulouse, France
A3 Centre d'Anthropologie, UMR 8555, 37-39 allées Jules Guesde, 31000 Toulouse, France


Abstract. Sequences of exons 6 and 7 of the O allele of the ABO gene were studied in 317 individuals of the O phenotype from five different ethnic groups (Basques, Berbers, Akans from the Ivory Coast, and Amerindians: Cayapas from Ecuador and Aymaras from Bolivia). Twenty-one O alleles were characterized, among which 9 differed from all O alleles reported to date. The nine alleles differed from either the O01 allele (four out of nine) or O02 allele (five out of nine) by one to three point mutations. The number of different O alleles in population samples varied greatly: the highest number (13) was observed in Akans, and the lowest (5) in Amerindians. Some rare alleles previously reported by others at low frequencies were found with high frequencies in the Akans. The results also revealed a decreasing frequency of Ov7 alleles from south to north (Akans, Berbers, Basques). Berbers and Basques share two rare alleles, Ov6 and O03, which were not encountered in the other populations studied here.