Analysis of Genetic Variation of rs2278961 Marker in COLQ Gene as an Informative Marker for Molecular Diagnosis of Congenital Myasthenic Syndrome in the Isfahan population

moeinifar, nafise and vallian, sadeq (2018) Analysis of Genetic Variation of rs2278961 Marker in COLQ Gene as an Informative Marker for Molecular Diagnosis of Congenital Myasthenic Syndrome in the Isfahan population. Journal of Sabzevar University of Medical Sciences, 25 (3). pp. 335-341.

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Abstract

AbstractBackground: Congenital myasthenic syndromes (CMS) recognized as heterogeneous disorders arising from presynaptic, synaptic, or postsynaptic defects. Congenital myasthenic syndrome due to defects in synaptic activity of the acetylcholinesterase enzyme (AChE) is caused by recessive mutations in the COLQ gene. Ideal method for molecular diagnosis of this disease is direct analysis of the gene mutations, which is expensive and time consuming. Therefore, alternative methods such as linkage analysis using polymorphic markers including single nucleotide polymorphism (SNP) is suggested.Materials and Methods: In this study, using bioinformatic analysis, rs2278961 marker located on 3'UTR of COLQ gene was selected which contains 2 alleles G and A. rs2278961 marker was genotyped in the Isfahan population by ARMS PCR technique, using specific primers. Degree of heterozygosity and allelic frequencies were calculated by Genepop software. Finally, the amount of polymorphism information content (PIC) was computed by PIC Calculator software.Results: According to the results of Genepop and PIC Calculator, the frequency of recessive allele A (MAF), the degree of heterozygosity and the PIC were estimated 0.539, 0.61842105 and 0.3735, respectively.Conclusion: Since the MAF>0.2 and PIC close to 0.375 are the criteria for an efficient marker, rs2278961 having mentioned conditions, therefore it could be suggested as an appropriate markers for diagnosis of CMS disease in Iranian population.

Item Type: Article
Subjects: R Medicine > R Medicine (General)
Depositing User: Saeed Shoja
Date Deposited: 12 Sep 2018 05:56
Last Modified: 12 Sep 2018 05:56
URI: http://eprints.medsab.ac.ir/id/eprint/699

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