title: The mutation G298A-->Ala100Thr on the coding sequence of the Duffy antigen/chemokine receptor gene in non-caucasian Brazilians.
abstract: Ala100Thr has been suggested to be a Caucasian genetic marker on the FY*B allele. As the Brazilian population has arisen from miscegenation among Portuguese, Africans, and Indians, this mutation could possibly be found in Euro- and Afro-Brazilians, or in Brazilian Indians. Fifty-three related individuals and a random sample of 100 subjects from the Brazilian population were investigated using the polymerase chain reaction and four restriction fragment length polymorphisms. Confirming the working hypothesis, among the related individuals three Afro-Brazilians (two of them a mother and daughter) and a woman of Amerindian descent had the Ala100Thr mutation on the FY*B allele. Five non-related Euro-Brazilians also carried the mutation. All nine individuals presented the Fy(a-b+) phenotype. We conclude that the Ala100Thr mutation can occur in populations other than Caucasians and that this mutation does not affect Duffy expression on red blood cells. Gene frequencies for this allele in the non-related individuals were in agreement with those of other populations. The Duffy frequencies of two Amerindian tribes were also investigated.
authors.affiliation: Departamento de Clínica Médica, Hospital Universitário Clementino Fraga Filho, Faculdade de Medicina, Universidade Federal do Rio de Janeiro, Rio de Janeiro, RJ, Brazil.
authors.forename: Angela Cristina
authors.initials: AC
authors.lastname: Estalote
authors.forename: Rodrigo
authors.initials: R
authors.lastname: Proto-Siqueira
authors.forename: Wilson Araújo Da
authors.initials: WA
authors.lastname: Silva
authors.forename: Marco Antonio
authors.initials: MA
authors.lastname: Zago
authors.forename: Marcos
authors.initials: M
authors.lastname: Palatnik
mesh_terms: D044467:American Indian or Alaska Native / Q000235:genetics; D044383:Black People / Q000235:genetics; D001938:Brazil; D004375:Duffy Blood-Group System / Q000235:genetics*; D005260:Female; D005819:Genetic Markers; D014644:Genetic Variation / Q000235:genetics*; D005838:Genotype; D006801:Humans; D008297:Male; D009154:Mutation / Q000235:genetics*; D010641:Phenotype; D016133:Polymerase Chain Reaction; D012150:Polymorphism, Restriction Fragment Length; D011956:Receptors, Cell Surface / Q000235:genetics*; D044465:White People / Q000235:genetics
chemical_list: C473745:ACKR1 protein, human; D004375:Duffy Blood-Group System; D005819:Genetic Markers; D011956:Receptors, Cell Surface