ANALYSIS OF GENETIC VARIATION OF RS1542705 MARKER IN SMPD1 GENE REGION AS AN INFORMATIVE MARKER FOR MOLECULAR DIAGNOSIS OF NIEMANN- PICK DISEASE IN ISFAHAN POPULATION

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Ebrahimi Nasim; VALLIAN BORUJENI SADEGH

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Journal: Journal of Arak University Medical Sciences Year:2016 | Volume:19 | Issue:6 (111) Page(s): 1-10

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Title

ANALYSIS OF GENETIC VARIATION OF RS1542705 MARKER IN SMPD1 GENE REGION AS AN INFORMATIVE MARKER FOR MOLECULAR DIAGNOSIS OF NIEMANN- PICK DISEASE IN ISFAHAN POPULATION

Author(s)

Ebrahimi Nasim | VALLIAN BORUJENI SADEGH | Issue Writer Certificate

Keywords

SINGLE NUCLEOTIDE POLYMORPHISMQ1

NIEMANN- PICK DISEASEQ1

IRANIAN POPULATIONQ1

ARMS PCRQ1

SMPD1Q1

Abstract

Background: Niemann-Pick disease (NPD) refers to a group of lysosomal storage diseasesthat causes abnormal metabolism of lipids. One of the genes that play a role in the pathogenesis of thisdisease is SMPD1. To date, more than hundred disease- causing mutations have been identified inSMPD1 gene. Due to the large number of mutations in this gene, direct analysis of the mutations iscostly and time-consuming. Therefore, indirect linkage analysis using polymorphic markers as analternative method for molecular diagnosis of the mutations has been recommended. In the presentstudy, allele frequency of rs1542705 genetic marker was analyzed in the IRANIAN POPULATION. The aimwas to determine the polymorphic information content (PIC) and the possibility of its application inindirect diagnosing of NPD.Materials and Methods: After bioinformatics analysis of the SMPD1 gene region, rs1542705marker was selected for genotyping in Isfahan population. In order to calculate the allele and genotypefrequency of the marker, molecular tests were done on 113 DNA samples of unrelated healthyindividuals by using ARMS-PCR technique. Finally, the information related to the genotype of theindividuals was statistically analyzed using Powermarker and Genepop software.Results: The analyses showed that the studied population was in accordance with Hardy-Weinberg equilibrium. Allele frequency of rs1542705 marker for T and C alleles was 71.24% and28.76%, respectively, and the heterozygosity of the marker was 43.36%. Also, polymorphicinformation content (PIC) was 0.325.Conclusion: The results of this study showed that rs1542705 marker could be considered asan informative marker for molecular diagnosis of NIEMANN- PICK DISEASE using linkage analysis in thestudied population.

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APA: Copy

Ebrahimi, Nasim, & VALLIAN BORUJENI, SADEGH. (2016). ANALYSIS OF GENETIC VARIATION OF RS1542705 MARKER IN SMPD1 GENE REGION AS AN INFORMATIVE MARKER FOR MOLECULAR DIAGNOSIS OF NIEMANN- PICK DISEASE IN ISFAHAN POPULATION. ARAK MEDICAL UNIVERSITY JOURNAL (AMUJ), 19(6 (111)), 1-10. SID. https://sid.ir/paper/69913/en

Vancouver: Copy

Ebrahimi Nasim, VALLIAN BORUJENI SADEGH. ANALYSIS OF GENETIC VARIATION OF RS1542705 MARKER IN SMPD1 GENE REGION AS AN INFORMATIVE MARKER FOR MOLECULAR DIAGNOSIS OF NIEMANN- PICK DISEASE IN ISFAHAN POPULATION. ARAK MEDICAL UNIVERSITY JOURNAL (AMUJ)[Internet]. 2016;19(6 (111)):1-10. Available from: https://sid.ir/paper/69913/en

IEEE: Copy

Nasim Ebrahimi, and SADEGH VALLIAN BORUJENI, “ANALYSIS OF GENETIC VARIATION OF RS1542705 MARKER IN SMPD1 GENE REGION AS AN INFORMATIVE MARKER FOR MOLECULAR DIAGNOSIS OF NIEMANN- PICK DISEASE IN ISFAHAN POPULATION,” ARAK MEDICAL UNIVERSITY JOURNAL (AMUJ), vol. 19, no. 6 (111), pp. 1–10, 2016, [Online]. Available: https://sid.ir/paper/69913/en

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