ALLELE FREQUENCY AND GENOTYPING OF RS2288258 POLYMORPHISM IN HEXA GENE REGION IN THE ISFAHAN POPULATION

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VAHHAB N.; JAZAERI A.; VALIAN BORUJENI S.

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Journal Paper

Paper Information

Journal: Journal of Ilam University of Medical Sciences Year:2017 | Volume:25 | Issue:1 Page(s): 54-62

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Title

ALLELE FREQUENCY AND GENOTYPING OF RS2288258 POLYMORPHISM IN HEXA GENE REGION IN THE ISFAHAN POPULATION

Author(s)

VAHHAB N. | JAZAERI A. | VALIAN BORUJENI S. | Issue Writer Certificate

Keywords

HEXAQ1

LINKAGE ANALYSISQ1

SINGLE NUCLEOTIDE POLYMORPHISMQ1

ISFAHAN POPULATIONQ1

Abstract

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.

Cites

Report of two Cases of Tay Sachs in Children of a Single Family

References

GM2-GANGLIOSIDOSIS (SANDHOFF AND TAY SACHS DISEASE): DIAGNOSIS AND NEUROIMAGING FINDINGS (AN IRANIAN PEDIATRIC CASE SERIES)

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APA: Copy

VAHHAB, N., JAZAERI, A., & VALIAN BORUJENI, S.. (2017). ALLELE FREQUENCY AND GENOTYPING OF RS2288258 POLYMORPHISM IN HEXA GENE REGION IN THE ISFAHAN POPULATION. JOURNAL OF ILAM UNIVERSITY OF MEDICAL SCIENCES, 25(1), 54-62. SID. https://sid.ir/paper/90084/en

Vancouver: Copy

VAHHAB N., JAZAERI A., VALIAN BORUJENI S.. ALLELE FREQUENCY AND GENOTYPING OF RS2288258 POLYMORPHISM IN HEXA GENE REGION IN THE ISFAHAN POPULATION. JOURNAL OF ILAM UNIVERSITY OF MEDICAL SCIENCES[Internet]. 2017;25(1):54-62. Available from: https://sid.ir/paper/90084/en

IEEE: Copy

N. VAHHAB, A. JAZAERI, and S. VALIAN BORUJENI, “ALLELE FREQUENCY AND GENOTYPING OF RS2288258 POLYMORPHISM IN HEXA GENE REGION IN THE ISFAHAN POPULATION,” JOURNAL OF ILAM UNIVERSITY OF MEDICAL SCIENCES, vol. 25, no. 1, pp. 54–62, 2017, [Online]. Available: https://sid.ir/paper/90084/en

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