alexa The Identification of Functional Non-Synonymous SNP in Human ATPBinding Cassette (ABC), Subfamily Member 7 Gene: Application of Bioinformatics Tools in Biomedicine
ISSN: 1948-593X

Journal of Bioanalysis & Biomedicine
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Research Article

The Identification of Functional Non-Synonymous SNP in Human ATPBinding Cassette (ABC), Subfamily Member 7 Gene: Application of Bioinformatics Tools in Biomedicine

Pornlada Nuchnoi1,2*, Duangdao Nantakomol3, Vasunun Chumchua4, Chotiros Plabplueng1,2, Chartchalerm Isarankura-Na-Ayudhya5 and Virapong Prachayasittikul5*

1Department of Clinical Microscopy, Faculty of Medical Technology, Mahidol University, Bangkok, 10700, Thailand

2Center for Innovation Development and Technology Transfer, Faculty of Medical Technology, Mahidol University, Bangkok, Thailand

3Department of Clinical Microscopy, Faculty of Allied Health Science, Chulalongkorn University, Bangkok, 10330, Thailand

4National Institute for Child and Family Development, Mahidol University, Nakhonpathom, 73170, Thailand

5Department of Clinical Microbiology, Faculty of Medical Technology, Mahidol University, Bangkok, 10700, Thailand

*Corresponding Author:
Dr. Pornlada Nuchnoi
Department of Clinical Microscopy
Faculty of Medical Technology
Mahidol University, Bangkok, Thailand 10700
Tel:+66-2-4414370 ext 2724
Fax:+66-2-441-4380
E-mail: [email protected]

Dr. Virapong Prachayasittikul
Professor, Department of Clinical Microbiology
Faculty of Medical Technology Mahidol University
Bangkok, 10700, Thailand
Tel:+66-2- 4414370 ext 2724
Fax :+66-2-441-4380
E-mail: [email protected]

Received Date: December 07, 2010; Accepted Date: December 23, 2010; Published Date: January 07, 2011

Citation: Nuchnoi P, Nantakomol D, Chumchua V, Plabplueng C, Isarankura- Na-Ayudhya C, et al. (2011) The Identification of Functional Non-Synonymous SNP in Human ATP-Binding Cassette (ABC), Subfamily Member 7 Gene: Application of Bioinformatics Tools in Biomedicine. J Bioanal Biomed 3:026-031. doi:10.4172/1948-593X.1000039

Copyright: © 2011 Nuchnoi P, 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

The prediction of functional single nucleotide polymorphism (SNP) is promising in modern genetics analysis. Computational biology technology has facilitated an increase in the successful rate of genetic association study and reduced the cost of genotyping. In the present study, we applied various bioinformatics tools for the selection of high potentially functional nsSNP and determined the linkage disequilibrium (LD) structure of ATP-binding cassette transporter member 7 (ABCA7) genes in HapMap populations. Two functional polymorphisms (rs3752233 and rs3752246) were identified on the basis of less protein stability, a low likelihood of mutability, a changing of protein structure and function. Interestingly, a completed LD between rs3752233 (R463H) and rs4147918 (Q1686R) was detected in Utah residents with ancestry from northern and western Europe (CEU) populations. In addition, the difference of the LD pattern between the populations observed highlighted the essential role of the construction of an LD map for designing and interpreting genetic association study. Studies herein convey the empirical guidelines for conduction of ABCA7 genetic association study via bioinformatics and computational application.

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