title: An INDEL polymorphism at the X-STR GATA172D05 flanking region.
abstract: A new polymorphic INDEL was detected at the X-STR GATA172D05 flanking region, which corresponds to an 18-bp deletion, 141 bp upstream the TAGA repeat motif. This INDEL was found to be polymorphic in different population samples from Native Americans, Africans, and Europeans as well as in an admixed population from the Amazonia (Belém). Gene diversities varied between 37.5% in Native Americans and 49.9% in Africans. Comparison between human and chimpanzee sequences showed that the ancestral state corresponds to the presence of two copies of 18 bp, detected in both species; and the mutated allele has lost one of these two copies. The simultaneous analysis of the short tandem repeat (STR) and INDEL variation showed an association between the INDEL ancestral allele with the shorter STR alleles. High diversities were found in all population groups when combining the information provided by the INDEL and STR variation. Gene diversities varied between 76.7% in Native Americans and 80.6% in both Portugal and Belém.
authors.affiliation: Laboratório de Genética Humana e Médica, Departamento de Patologia, Universidade Federal do Pará, Belém, PA, Brazil.
authors.forename: Elzemar Martins Ribeiro
authors.initials: EM
authors.lastname: Rodrigues
authors.forename: Ney Pereira Carneiro
authors.initials: NP
authors.lastname: dos Santos
authors.forename: Andrea Kely Campos Ribeiro
authors.initials: AK
authors.lastname: dos Santos
authors.forename: Anderson Nonato
authors.initials: AN
authors.lastname: Marinho
authors.forename: Marco Antonio
authors.initials: MA
authors.lastname: Zago
authors.forename: Iva
authors.initials: I
authors.lastname: Gomes
authors.forename: António
authors.initials: A
authors.lastname: Amorim
authors.forename: Leonor
authors.initials: L
authors.lastname: Gusmão
authors.forename: Sidney Emanuel Batista
authors.initials: SE
authors.lastname: dos Santos
mesh_terms: D000818:Animals; D017931:DNA Primers; D005787:Gene Frequency; D006239:Haplotypes; D006801:Humans; D054643:INDEL Mutation; D008297:Male; D016133:Polymerase Chain Reaction; D011110:Polymorphism, Genetic; D044469:Racial Groups / Q000235:genetics; D020080:Tandem Repeat Sequences; D014960:X Chromosome
chemical_list: D017931:DNA Primers