title: DNA-based typing of Kell, Kidd, MNS, Dombrock, Colton, and Yt blood group systems in the French Basques.
abstract: The Basques demonstrate peculiar characteristics regarding blood group systems. Although ABO, Rhesus, and Duffy have been extensively studied in this population, the distribution of other groups remains largely unknown. Therefore, we evaluated the frequency of less-explored- or still noninvestigated blood groups using DNA-based assays and interpreted these data in the view of population genetics. Polymorphisms of KEL (Kell), SLCA14A1 (Kidd), GYPA/GYPB (MNS), ART4 (Dombrock), AQP1 (Colton), and ACHE (Yt) blood group genes were determined from a sample of more than 100 autochthonous French Basques using allele-specific primer PCR (PCR-ASP) methods. Our results were compared with those previously obtained by the use of serology from both Basque and non-Basque European populations. MNS*1 and JK*1 allele frequencies were comparable with those reported from Basque samples. Conversely, the KEL*1 allele frequency differed significantly. To our knowledge, this is the first time that the other three systems are studied in the Basque population. DO*1 and CO*1 allele frequencies, being respectively 0.35 and 0.96, were significantly inferior to those published from various European populations. There were some discrepancies regarding these six blood systems when comparing molecular typing with serology. These findings may be explained by differences in either criteria for individual selection or technical assays. Nevertheless, these results constitute additional data to be included in the chapter of Basque biological anthropology.
authors.affiliation: Pôle du Polymorphisme Génétique Humain, Laboratoire d'Hématologie Moléculaire, Etablissement Français du Sang Alpes-Méditerranée, 13009 Marseille, France.
authors.forename: Mhammed
authors.initials: M
authors.lastname: Touinssi
authors.forename: Jacques
authors.initials: J
authors.lastname: Chiaroni
authors.forename: Anna
authors.initials: A
authors.lastname: Degioanni
authors.forename: Thomas
authors.initials: T
authors.lastname: Granier
authors.forename: Olivier
authors.initials: O
authors.lastname: Dutour
authors.forename: Pascal
authors.initials: P
authors.lastname: Bailly
authors.forename: Frédéric
authors.initials: F
authors.lastname: Bauduer
mesh_terms: D000483:Alleles; D001789:Blood Group Antigens / Q000235:genetics*; D016172:DNA Fingerprinting; D005260:Female; D005602:France / Q000208:ethnology; D005784:Gene Amplification; D005787:Gene Frequency; D005828:Genetics, Population; D005838:Genotype; D006801:Humans; D007626:Kell Blood-Group System / Q000235:genetics; D007667:Kidd Blood-Group System / Q000235:genetics; D008951:MNSs Blood-Group System / Q000235:genetics; D008297:Male; D011110:Polymorphism, Genetic
chemical_list: D001789:Blood Group Antigens; D007626:Kell Blood-Group System; D007667:Kidd Blood-Group System; D008951:MNSs Blood-Group System