Tri-allelic pattern at the TPOX locus: A familial study |
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Authors: | Juliane Bentes Picanç o,Paulo Eduardo Raimann,Giorgio Adriano Paskulin,Luí s Alvarez,Antó nio Amorim,Sidney Emanuel Batista dos Santos,Clarice Sampaio Alho |
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Affiliation: | 1. Faculdade de Biociências, Pontifícia Universidade Católica do Rio Grande do Sul, Porto Alegre, RS, Brazil;2. Universidade Federal de Ciências da Saúde de Porto Alegre — UFCSPA e Complexo Hospitalar Santa Casa de Porto Alegre — CHSCPA, Porto Alegre, RS, Brazil;3. IPATIMUP, Institute of Molecular Pathology and Immunology of the University of Porto, Porto, Portugal;4. Department of Biology, Faculty of Sciences of the University of Porto, Porto, Portugal;5. Universidade Federal do Pará, Centro de Ciências Biológicas, Laboratório de Genética Humana e Médica, Belém, Pará, Brazil |
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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. |
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Keywords: | CNVs, copy number variations STR, short tandem repeat TPOX, thyroid peroxidase FBI, Federal Bureau Investigation CODIS, Combined DNA Index System DNA, deoxyribonucleic acid GTG, G-banded chromosome pb, base pair PCR, polymerase chain reaction X-STR, short tandem repeat of X-chromosome IBGE, Instituto Brasileiro de Geografia e Estatí stica |
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