DETECTION SINGLE NUCLEOTIDE POLYMORPHISMS IN UROMODULIN PROMOTER REGION ASSOCIATED WITH RENAL DISEASES USING SINGLE-STRAND CONFORMATION POLYMORPHISM-POLYMERASE CHAIN POLYMORPHISMS TECHNIQUE

Authors

  • Zahraa Isam Department of Biology, College of Science, University of Babylon, Al-Hillah City, Babel, Iraq.
  • Rabab Omran Department of Biology, College of Science, University of Babylon, Al-Hillah City, Babel, Iraq http://orcid.org/0000-0001-9449-3421
  • Ammad Hassan Mahmood College of Medicine, University of Babylon, Consultant urologist in Hilla Teaching  Hospital, Al-Hillah City, Babel, Iraq.

DOI:

https://doi.org/10.22159/ajpcr.2018.v11i1.22063

Keywords:

Chronic kidney disease, End-stage renal disease, UMOD-promoter region, SNPs, Single-strand conformation polymorphism-polymerase chain polymorphisms

Abstract

 

 Objective: The uromodulin, a glycoprotein, expressed and secreted by epithelial kidney cells lining the thick ascending limb of the Henle's loop. It is encoded by the UMOD gene in humans. Our objective was to analyze single nucleotide polymorphisms (SNPs) in the UMOD promoter region in patients with chronic kidney disease (CKD) and end-stage renal disease (ESRD).

Methods: The blood samples were collected from 100 patients with CKD (50) and ESRD (50), who admitted at Merjan Teaching Hospital in Babylon Province, Iraq (February-July 2016). In addition, 50 blood samples of healthy control. The SNPs of UMOD promoter region was investigated using single-strand conformation polymorphism-polymerase chain polymorphisms (SSCP-PCR) and DNA sequencing techniques.

Results: UOMD promoter region polymorphisms using PCR-SSCP and sequencing DNA appeared three different conformational haplotypes, including A\G 49 haplotype (5 bands), A\G 49 and C\A 247 haplotype (5 bands), and C\G 45 and A\G 49 haplotype (6 bands) distributed among CKD and ESRD cases, due to the presence of three SNPs. There was no association between band numbers of PCR-SSCP with ESRD and CKD compared with a control group.

Conclusion: SSCP-PCR is a good screening method to detect genetic variations in an uromodulin promoter region.

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Author Biographies

Zahraa Isam, Department of Biology, College of Science, University of Babylon, Al-Hillah City, Babel, Iraq.

Ph.D. Student in Department of Biology

Rabab Omran, Department of Biology, College of Science, University of Babylon, Al-Hillah City, Babel, Iraq

Professor of Biotechnology- Genetic Engineering in Department of Biology

Ammad Hassan Mahmood, College of Medicine, University of Babylon, Consultant urologist in Hilla Teaching  Hospital, Al-Hillah City, Babel, Iraq.

Professor of Urology,  College of Medicine

References

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Published

01-01-2018

How to Cite

Isam, Z., Rabab Omran, and A. H. Mahmood. “DETECTION SINGLE NUCLEOTIDE POLYMORPHISMS IN UROMODULIN PROMOTER REGION ASSOCIATED WITH RENAL DISEASES USING SINGLE-STRAND CONFORMATION POLYMORPHISM-POLYMERASE CHAIN POLYMORPHISMS TECHNIQUE”. Asian Journal of Pharmaceutical and Clinical Research, vol. 11, no. 1, Jan. 2018, pp. 205-9, doi:10.22159/ajpcr.2018.v11i1.22063.

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Original Article(s)