GENOTYPING RS2274625 MARKER IN NPHS2 GENE ASSOCIATED WITH NEPHROTIC SYNDROME IN ISFAHAN POPULATION

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ESMAILI CHAMGORDANI L.; JAZAYERI A.; VALLIAN BORUJENI S.

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Journal: Journal of Shahid Sadoughi University of Medical Sciences Year:2015 | Volume:23 | Issue:9 Page(s): 870-878

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Title

GENOTYPING RS2274625 MARKER IN NPHS2 GENE ASSOCIATED WITH NEPHROTIC SYNDROME IN ISFAHAN POPULATION

Author(s)

ESMAILI CHAMGORDANI L. | JAZAYERI A. | VALLIAN BORUJENI S. | Issue Writer Certificate

Keywords

ISFAHAN POPULATIONQ2

LINKAGE ANALYSISQ2

NPHS2Q1

SINGLE NUCLEOTIDE POLYMORPHISMQ2

Abstract

Introduction: Nephrotic syndrome (NS) is a genetic disease belonging to a heterogeneous group of glomerular disorders, which mainly occurs within the children. LINKAGE ANALYSIS using SINGLE NUCLEOTIDE POLYMORPHISMs (SNP) is used as an indirect method in molecular diagnosis of the disease. A large number of SNP markers have been introduced in NPHS2gene in the available electronic databases.Method: In the present study, the genotype and informative status of rs2274625 marker in NPHS2 genewas investigated in 120 unrelated healthy individuals using Tetra-primer ARMS PCR technique and newly designed primers. Allelic frequency and presence of Hardy Weinberg Equilibrium (HWE) was estimated using GenePop website. Furthermore, PowerMarker software was utilized in order to compute the index of polymorphism information content (PIC).Results: The study results indicated allele frequency of 97% and 3% for C and T alleles, respectively, in regard with rs2274625 marker within ISFAHAN POPULATION. Moreover, the PIC for the rs2274625 marker was 0.5%, and HWE revealed the equilibruim of the study population in regard with the related marker.Conclusion: As the study findings indicated, rs2274625 could be introduced as an SNP marker in the LINKAGE ANALYSIS in order to molecularly trace NPHS2 gene mutations in molecular NS diagnosis in ISFAHAN POPULATION as a representative sample of the Iranian population.

Cites

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

References

GENE MUTATIONS AND STEROID-RESISTANT NEPHROTIC SYNDROME (COMMENTARY)

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APA: Copy

ESMAILI CHAMGORDANI, L., JAZAYERI, A., & VALLIAN BORUJENI, S.. (2015). GENOTYPING RS2274625 MARKER IN NPHS2 GENE ASSOCIATED WITH NEPHROTIC SYNDROME IN ISFAHAN POPULATION. JOURNAL OF SHAHID SADOUGHI UNIVERSITY OF MEDICAL SCIENCES, 23(9), 870-878. SID. https://sid.ir/paper/36164/en

Vancouver: Copy

ESMAILI CHAMGORDANI L., JAZAYERI A., VALLIAN BORUJENI S.. GENOTYPING RS2274625 MARKER IN NPHS2 GENE ASSOCIATED WITH NEPHROTIC SYNDROME IN ISFAHAN POPULATION. JOURNAL OF SHAHID SADOUGHI UNIVERSITY OF MEDICAL SCIENCES[Internet]. 2015;23(9):870-878. Available from: https://sid.ir/paper/36164/en

IEEE: Copy

L. ESMAILI CHAMGORDANI, A. JAZAYERI, and S. VALLIAN BORUJENI, “GENOTYPING RS2274625 MARKER IN NPHS2 GENE ASSOCIATED WITH NEPHROTIC SYNDROME IN ISFAHAN POPULATION,” JOURNAL OF SHAHID SADOUGHI UNIVERSITY OF MEDICAL SCIENCES, vol. 23, no. 9, pp. 870–878, 2015, [Online]. Available: https://sid.ir/paper/36164/en

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