Tri-allelic pattern at the TPOX locus: a familial study.

Autor: Picanço JB; Faculdade de Biociências, Pontifícia Universidade Católica do Rio Grande do Sul, Porto Alegre, RS, Brazil., Raimann PE; Faculdade de Biociências, Pontifícia Universidade Católica do Rio Grande do Sul, Porto Alegre, RS, Brazil., Paskulin GA; Universidade Federal de Ciências da Saúde de Porto Alegre - UFCSPA e Complexo Hospitalar Santa Casa de Porto Alegre - CHSCPA, Porto Alegre, RS, Brazil., Alvarez L; IPATIMUP, Institute of Molecular Pathology and Immunology of the University of Porto, Porto, Portugal., Amorim A; 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., Batista Dos Santos SE; Universidade Federal do Pará, Centro de Ciências Biológicas, Laboratório de Genética Humana e Médica, Belém, Pará, Brazil., Alho CS; Faculdade de Biociências, Pontifícia Universidade Católica do Rio Grande do Sul, Porto Alegre, RS, Brazil. Electronic address: csalho@pucrs.br.
Jazyk: angličtina
Zdroj: Gene [Gene] 2014 Feb 10; Vol. 535 (2), pp. 353-8. Date of Electronic Publication: 2013 Oct 18.
DOI: 10.1016/j.gene.2013.10.019
Abstrakt: 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.
(© 2013.)
Databáze: MEDLINE
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