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

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.

Caracterización genético molecular de habitantes de Caleta Paposo, último reducto Chango en Chile

“…Adicionalmente, se han descrito variantes moleculares del alelo O definidas por mutaciones puntuales, como O 1V (actualmente denominado O201). Este alelo presenta nueve sustituciones nucleotídicas distribuidas principalmente en los exones 6 y 7 de su secuencia codificante además de la deleción que define a los alelos O [33][34][35][36][37] .…”

Polymorphisms in the ABO blood group gene in three populations in the New Georgia group of the Solomon Islands

“…The ABO blood group gene (ABO) has high polymorphism at the molecular level (see Yip (2002) for review), and the allele frequency distribution of ABO differs among populations (Ogasawara et al 1996;Olsson et al 1998;Kobayashi et al 1999;Iwasaki et al 2000;Roubinet et al 2001;Ohashi et al 2004). Because of these characteristics, the ABO gene can serve as a genetic marker suitable for studying genetic affinity among populations.…”

Caracterización molecular de alelos ABO*O del locus de grupo sanguíneo ABO en tres poblaciones chilenas

“…Frecuencias un poco menores, pero igualmente significativas, se encontraron en indígenas de Ecuador y Bolivia 7 . En tanto, en poblaciones caucásicas se han observado frecuencias más bajas, tales como 0,40 y 0,29, en población de Suecia y población vasca, respectivamente 5,7 .…”

“…Este nuevo alelo se encontró en 43% de los indígenas de la Amazonia y en 4% en individuos caucásicos estudiados de Suecia 5 . No se encontró esta mutación en la población vasca estudiada 7 .…”