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ISSN: 2161-1041

Hereditary Genetics: Current Research
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Research Article

A Prospective Screening of Gene Copy Number Variation in Brazilian Admixed Population Sample

Dianny Elizabeth Jimenez1, Tulio Cesar de Lima Lins2, Priscilla Orosco Taveira1, Rinaldo Wellerson Pereira1,2*

1Programa de Pos-Graduaçao em Ciencias Genomicas e Biotecnologia, Universidade Catolica de Brasilia, Brasilia, DF, Brazil

2Programa de Pos-Graduacao em Patologia Molecular, Universidade de Brasilia, Brasilia, DF, Brazil

*Corresponding Author:
Rinaldo Wellerson Pereira
SGAN 916 Modulo B, “Bloco C” 2° Andar
Sala C-207 – Brasilia–DF, Brazil, CEP 70790-160
Tel: +55-61-3448-7222
Fax: +55-61-3347-4797
E-mail: [email protected]

Received date: December 26, 2013; Accepted date: January 29, 2014; Published date: January 31, 2014

Citation: Jimenez DE, de Lima Lins TC, Taveira PO, Pereira RW (2014) A Prospective Screening of Gene Copy Number Variation in Brazilian Admixed Population Sample. Hereditary Genet 3:125. doi: 10.4172/2161-1041.1000125

Copyright: © 2014 Jimenez DE, et al. This is an open-access article distributed under the terms of the Creative Commons Attribution License, which permits unrestricted use, distribution, and reproduction in any medium, provided the original author and source are credited.

Abstract

Copy number variants (CNVs) represent an important source of variation in the human genome. Some CNVS embedded genes are differently distributed among the human population groups. Therefore, it is important to understand the distribution of CNV within and between populations, especially in those with admixed ancestry, such as the Brazilians. The aim of the study was to investigate the variability of a set of CNV-embedded genes in a sample of the Brazilian population. The CNV-embedded genes were chosen based on data showing that they have differential copy variation distribution between African and Europeans. Four genes (POLR2J4, PCDHB13, NPEPPS and AMY1) were investigated by qPCR in a sample of 96 Brazilians, previously classified by genetic ancestry. The gene AMY1 showed a variable copy numbers in the range of 1 to 8 copies whereas NPEPPS ranged from 1 to 5 copies. A low variability was identified for the POLR2J4 and PCDHB13 genes, showing 2 copies in frequency of 0.875 and 0.917, respectively. Genetic ancestry was not correlated to the number of copies of the AMY1and NPEPPS genes. The results provided an overview of the corresponding frequency of gene copy number variation in a sample of the Brazilian population, serving as reference for further genetic population studies, which may correlate these polymorphisms with other phenotypic features.

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