title: (AC)n dinucleotide repeat polymorphism in 5' beta-globin gene in native and Mestizo Mexican populations.
abstract: Repeated sequences are dispersed along the human genome. These sequences are useful as markers in diagnosis of inherited diseases, in forensic medicine, and in tracking the origin and evolution of human populations. The (AC)n repeated element is the most frequent in the human genome. In this paper, the (AC)n repeated element located in the 5' flanking region of the beta-globin gene was studied by single-strand conformation polymorphism (SSCP). Four ethnic Mexican groups (Mixteca, Nahua, Otomí, Purépecha) and a Mestizo population were analyzed. We observed three alleles, A [(AC)16, B [(AC)14], and C [(AC)18], with a frequency of between 68.2% and 86.9%, 13.1% and 18.2%, and 6.7% and 13.7%, respectively. Allele C was present only in Purépecha and Mestizo groups. The absence of this allele in the other ethnic groups studied suggests that there is low genetic admixture of Purépecha and that this is a relatively isolated population. However, it could be that the C allele occurs in low frequencies in the other groups as a result of small sample sizes. The (AC)n repeat polymorphism in the beta-globin gene has not been previously studied in Amerindian populations.
authors.affiliation: Unit of Investigation in Human Genetics, National Medical Center SXXI, IMSS, Mexico City, Mexico.
authors.forename: R
authors.initials: R
authors.lastname: Peñaloza
authors.forename: P
authors.initials: P
authors.lastname: Delgado
authors.forename: D
authors.initials: D
authors.lastname: Arenas
authors.forename: C
authors.initials: C
authors.lastname: Barrientos
authors.forename: L
authors.initials: L
authors.lastname: Buentello
authors.forename: F
authors.initials: F
authors.lastname: Loeza
authors.forename: F
authors.initials: F
authors.lastname: Salamanca
mesh_terms: D000483:Alleles; D005006:Ethnicity / Q000235:genetics*; D014644:Genetic Variation; D005914:Globins / Q000235:genetics*; D006801:Humans; D007197:Indians, Central American / Q000235:genetics; D008800:Mexico; D018895:Microsatellite Repeats; D016133:Polymerase Chain Reaction; D011110:Polymorphism, Genetic
chemical_list: D005914:Globins