Concurrency of Mutations, Microsatellites and Predicted Domains in kcnq1, kcnh2 and scn5a Genes Causing Long qt Syndrome Disease

G Venkata Swamy,Allam Appa Rao

doi:10.4172/jpb.s1000003

Abstract

Bioinformatics is the field of science in which biology, computer science, and information technology merge to form a single discipline. The revolutionary growth in the computation speed and memory storage capability has fueled a new era in the analysis of biological data. The ultimate goal of the field is to enable the discovery of new biological insights as well as to create a global perspective from which unifying principles in biology can be discerned. Bioinformatics, also known as genomics, computational genomics, or computational molecular biology is a rate.We have used the analogy of genome analysis and VIRUS (vital information recourse under siege) and analyzed KCNQ1, KCNH2 and SCN5A genes, which are playing an important role in LQTS disease. We tried to find out whether the presence of microsatellites or simple sequence repeats in the KCNQ1, KCNH2 and SCN5A genes, are having any significance in the generation of these mutations and checked whether these mutations are fallen in the regions of those microsatillites and if so, is there any significance of these microsatillites in the functional domains of the each gene?.Our analysis revealed that 24 of the 26 mutations of the KCNQ1 gene, 19 of the 21 mutations of the KCNH2 gene and 3 of the 7 mutations of the SCN5A gene, which are existing in the microsatellite regions are fallen in the domain regions of the respective genes and thus indicating a positive role of microsatellites in mutagenesis.

Highlights

Long QT syndrome (LQTS) is a congenital disorder characterized by a prolongation of the QT interval on ECG and a propensity to ventricular tachyarrhythmia, which may lead to syncope, cardiac arrest, or sudden death
Apart from genes, the human genome consists of a large number of nucleotide repeat units of size 1-6 bp repeated tandemly called Micro satellites or Simple Sequence Repeats (SSRs) or Short Tandem Repeats (STRs) (Schlotterer, C, 2000) Micro satellites are found in all the known genomes, spanning from prokaryotes, eukaryotes and viruses and are widely distributed both in coding and noncoding regions (Toth, G et al, 2000; Sreenu et al, 2007)
All the experimental proved mutations of the genes KCNQ1,KCNH2 and SCN5A that are falling inside the coding region and are eventually leading to phenotypic differences were collected from the Human Gene Mutation Database (HGMD) (Stenson, P.D et al, 2003)

Summary

Introduction

Long QT syndrome (LQTS) is a congenital disorder characterized by a prolongation of the QT interval on ECG and a propensity to ventricular tachyarrhythmia, which may lead to syncope, cardiac arrest, or sudden death. Apart from genes, the human genome consists of a large number of nucleotide repeat units of size 1-6 bp repeated tandemly called Micro satellites or Simple Sequence Repeats (SSRs) or Short Tandem Repeats (STRs) (Schlotterer, C, 2000) Micro satellites are found in all the known genomes, spanning from prokaryotes, eukaryotes and viruses and are widely distributed both in coding and noncoding regions (Toth, G et al, 2000; Sreenu et al, 2007) Mutations in these microsatellite regions occur at much higher rate when compared with those in the rest of the genome (Ellegren, H, 2000). We made a brief study to check whether the mutations in KCNQ1, KCNH2 and SCN5A genes, have any relation with these microsatellites repeats and the study revealed interesting results

Methods

Results and Discussions

Conclusion