alexa Discovery of Novel DNA Variants in Jordanians Populatio
ISSN: 2168-9547

Molecular Biology: Open Access
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Thesis

Discovery of Novel DNA Variants in Jordanians Population by Re- Genotyping Affymetrix DMET Arrays Data Using DNA Sequencing

Marzooq Ammar AL*

Faculty of Graduate Studies, Jordan University of Science and Technology, Manama, Bahrain

*Corresponding Author:
Marzooq Ammar AL, M.Sc.
Faculty of Graduate Studies
Jordan University of Science and Technology, Manama, Bahrain
Tel: 0097338898925
E-Mail: [email protected]

Received March 13, 2015; Accepted June 24, 2015; Published June 30, 2015

Citation: Marzooq Ammar AL (2015) Discovery of Novel DNA Variants in Jordanians Population by Re- Genotyping Affymetrix DMET Arrays Data Using DNA Sequencing. Mol Biol 4:126. doi:10.4172/2168-9547.1000126

Copyright: © 2015 Marzooq Ammar 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

The Affymetrix DMETTMM plus platform (Affymetrix, Santa Clara, CA, USA) is a GeneChip where 1936 SNPs can be genotyped in any given sample at once. The 1936 SNPs were distributed cross 225 genes in the genome. Thirtynine genes on the chip belong to phase I–II drug metabolism, disposition and drug transport gene family. These genes are functional in metabolizing the most widely prescribed anticancer drugs in the world including aromatase inhibitors, tamoxifen and thiopurines groups. In a high-throughput GeneChip array which is based on hybridization with allelespecific probes; genotyping errors are very common which limits the technologies applications; in addition missing calls for many SNPs on the chip immerge as a bigger and more serious problem in high- throughput genotyping methods. This study focuses on re-genotyping these No-call genotypes to maintain sample sizes that are already genotyped by Affymetrix DMETTMM plus platform. Sixty six different variations were identified, 39 of them had No-call genotypes; our re-genotyping resulted in increasing calling rate from 89.08% to 95.56%. Furthermore, Among the variations that were identified, 8 were non-reported: C.-209T > G in UGT2B7 and -698°C > A in CYP1A2 as promoter variants, c.252G > T in SLC22A6 and c.1356T > C in SLC15A1 as silent mutation, c.1277 + 69°C > T and c.1277 + 82°C > T in SLC22A1 as intronic variants associated with each other and the most important variations are two missense (non- synonymous) in NAT2 gene: D20N c.58G > A and G11S c.31G > A. Affymetrix DMETTMM plus platform.

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