Tri-allelic pattern at the TPOX locus: A familial study

• Type: Article in International Scientific Journal
• Date: 2014

Authors

Juliane Bentes Picanco (Author) Other; Paulo Eduardo Raimann (Author) Other; Giorgio Adriano Paskulin (Author) Other; Luis Alvarez (Author) Other; Antonio Amorim (Author) FCUP; Sidney Emanuel B Batista dos Santos (Author) Other; Clarice Sampaio Alho (Author) Other

Journal

Title: Gene

Vol. 535

Pages: 353-358

ISSN: 0378-1119

Publisher: Elsevier

Indexing

ISI Web of Knowledge - 10 Citations

Scopus - 13 Citations

Scientific classification

FOS: Natural sciences > Earth and related Environmental sciences

Other information

Authenticus ID: P-008-K9Y

DOI: 10.1016/j.gene.2013.10.019

Abstract (EN): Alleles at the TPOX SIR 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 SIR 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.

Language: English

Type (Professor's evaluation): Scientific

No. of pages: 6