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.
Subject(s)
Ethnicity/genetics , Genetic Variation , Globins/genetics , Polymorphism, Genetic , Alleles , Humans , Indians, Central American/genetics , Mexico , Microsatellite Repeats , Polymerase Chain ReactionABSTRACT
A patient with Turner phenotype was found to carry two de novo chromosome aberrations: a 45,X line and a whole arm reciprocal translocation t(3;9). Fluorescence in situ hybridisation on metaphase cells using alpha satellite DNA for chromosome 3 and beta satellite and 'classical' satellite DNA for chromosome 9 showed that the centromeric region of chromosome 3 was retained in the 3q9q translocation derivative, as was the secondary constriction heterochromatin of chromosome 9. No signals were observed in the 3p9p derivative with the three probes. This suggests that the breakpoints were on 3p11 and 9q11. The karyotype was 45,X,t(3;9)(3qter-->3p11::9q11-->9qter; 9qter-->9q11::3p11-->3pter).
