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:: Volume 25, Issue 1 (5-2017) ::
sjimu 2017, 25(1): 54-62 Back to browse issues page
Allele Frequency and Genotyping of rs2288258 Polymorphism in HEXA Gene Region in the Isfahan Population
Nasrin Vahhab, Ali Jazaeri, Sadeq Vallian Borujeni 1
1- isfahan university , sadeqvallian@gmail.com
Abstract:   (3531 Views)

Introduction: Tay-Sachs is a genetic disorder with autosomal recessive inheritance affecting the central nervous system. The disorder mainly results from mutations in the HEXA gene on chromosome 15. Sequencing is used to detect mutations and sequence variations in the HEXA gene, which is expensive and time consuming. Alternatively, linkage analysis of polymorphic markers such as single nucleotide polymorphism (SNP) could be used in heterozygous carrier detection and prenatal diagnosis of the disease in families with an affected individual.

Materials & methods: A large number of SNP markers have been introduced for the HEXA gene in the electronic databases. In the present study the genotype and informative situation of rs2288258 genetic marker in HEXA gene region was investigated using Tetra-primer ARMS PCR technique with newly designed primers in Isfahan population. Estimation of allelic frequency, genotype frequency, presence of Hardy Weinberg Equilibrium (HWE) and the amount of polymorphism information content (PIC) was computed by Power Marker software.

Findings: The results indicated 9.12% minor allele frequency (MAF) and PIC=0.1520 for rs2288258 marker in the Isfahan population. Also, analysis of Hardy-Weinberg Equilibrium showed the presence of equilibrium for this marker in the mentioned population.

Discussion & conclusions: The results indicated 9.12% minor allele frequency (MAF) and PIC=0.1520 for rs2288258 marker in the Isfahan population. Also, analysis of Hardy-Weinberg Equilibrium showed the presence of equilibrium for this marker in the mentioned population. Totally, according to the results of this study rs2288258 genetic marker could be introduced as an SNP marker for linkage analysis in carrier detection and prenatal diagnosis of HEXA mutations in Isfahan population.

Keywords: Keywords: HEXA, Linkage analysis, Single nucleotide polymorphism, Isfahan population
Full-Text [PDF 620 kb]   (1989 Downloads)    
Type of Study: Research |
Received: 2015/09/16 | Accepted: 2015/12/5 | Published: 2017/05/3
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Vahhab N, Jazaeri A, Vallian Borujeni S. Allele Frequency and Genotyping of rs2288258 Polymorphism in HEXA Gene Region in the Isfahan Population. sjimu. 2017; 25 (1) :54-62
URL: http://sjimu.medilam.ac.ir/article-1-3052-en.html


Volume 25, Issue 1 (5-2017) Back to browse issues page
مجله علمی پزوهشی دانشگاه علوم پزشکی ایلام scientific journal of ilam university of medical sciences
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