title: Tri-allelic pattern at the TPOX locus: a familial study.
abstract: Alleles at the TPOX STR locus have 6-14 different numbers of a four-nucleotide (AATG) repeat motif arranged in tandem. Although tri-allelic genotypes are generally rare, the TPOX tri-allelic pattern has a higher frequency, varying widely among populations. Despite this, there are few accurate reports to disclose the nature of the TPOX third allele. In this work we present data obtained from 45 individuals belonging to the same pedigree, in which there are cases of tri-allelic TPOX genotypes. The subjects were apparently healthy with a normal biological development. We noticed six tri-allelic cases in this family, and all of them were women. Karyotype analysis showed no occurrence of partial 2p trisomy. All the tri-allelic cases had the genotype 8-10-11, probably due to three copies of the TPOX STR sequence in all cells (Type 2 tri-allelic pattern). Based on previous data we assumed the allele 10 as the TPOX third allele. The pedigree analyses show evidences that the TPOX extra-allele was the allele10, it is placed far from the main TPOX locus, and that there is a potential linkage of the TPOX extra-allele-10 with Xq. This was the first study that included a large pedigree analysis in order to understand the nature TPOX tri-allelic pattern.
authors.affiliation: Faculdade de Biociências, Pontifícia Universidade Católica do Rio Grande do Sul, Porto Alegre, RS, Brazil.
authors.forename: Juliane Bentes
authors.initials: JB
authors.lastname: Picanço
authors.affiliation: Faculdade de Biociências, Pontifícia Universidade Católica do Rio Grande do Sul, Porto Alegre, RS, Brazil.
authors.forename: Paulo Eduardo
authors.initials: PE
authors.lastname: Raimann
authors.affiliation: Universidade Federal de Ciências da Saúde de Porto Alegre - UFCSPA e Complexo Hospitalar Santa Casa de Porto Alegre - CHSCPA, Porto Alegre, RS, Brazil.
authors.forename: Giorgio Adriano
authors.initials: GA
authors.lastname: Paskulin
authors.affiliation: IPATIMUP, Institute of Molecular Pathology and Immunology of the University of Porto, Porto, Portugal.
authors.forename: Luís
authors.initials: L
authors.lastname: Alvarez
authors.affiliation: IPATIMUP, Institute of Molecular Pathology and Immunology of the University of Porto, Porto, Portugal; Department of Biology, Faculty of Sciences of the University of Porto, Porto, Portugal.
authors.forename: António
authors.initials: A
authors.lastname: Amorim
authors.affiliation: Universidade Federal do Pará, Centro de Ciências Biológicas, Laboratório de Genética Humana e Médica, Belém, Pará, Brazil.
authors.forename: Sidney Emanuel
authors.initials: SE
authors.lastname: Batista Dos Santos
authors.affiliation: Faculdade de Biociências, Pontifícia Universidade Católica do Rio Grande do Sul, Porto Alegre, RS, Brazil. Electronic address: csalho@pucrs.br.
authors.forename: Clarice Sampaio
authors.initials: CS
authors.lastname: Alho
mesh_terms: D000293:Adolescent; D000328:Adult; D000368:Aged; D000483:Alleles; D001938:Brazil; D002648:Child; D005190:Family; D005260:Female; D005787:Gene Frequency; D008040:Genetic Linkage; D056426:Genetic Loci; D005838:Genotype; D006801:Humans; D059785:Karyotype; D018895:Microsatellite Repeats; D008875:Middle Aged; D010375:Pedigree; D020161:Physical Chromosome Mapping; D055815:Young Adult
keywords: CNVs; CODIS; Combined DNA Index System; DNA; FBI; Family pedigree; Federal Bureau Investigation; G-banded chromosome; GTG; IBGE; Instituto Brasileiro de Geografia e Estatística; PCR; STR; TPOX; Tri-allelic pattern; X-STR; base pair; copy number variations; deoxyribonucleic acid; pb; polymerase chain reaction; short tandem repeat; short tandem repeat of X-chromosome; thyroid peroxidase