Detection Single Nucleotide Polymorphisms in Uromodulin Promoter Region Associated With Renal Diseases Using Single-Strand Conformation Polymorphism-Polymerase Chain Polymorphisms Technique

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).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.

Dual-Color Emissive AIEgen for Specific and Label-Free Double-Stranded DNA Recognition and Single-Nucleotide Polymorphisms Detection

“…DNA double helix, or double-stranded DNA (dsDNA), built by two paired DNA strands that are complementary in their base sequence, carries all of the genetic information for life. , In recent decades, enormous research has been carried out for DNA analysis because of its importance in hereditary diseases, clinical diagnosis, and the emerging DNA nanotechnology. − Single-nucleotide polymorphisms (SNPs), induced by a single base-pairing mutation in the dsDNA genome, are the most common form of sequence variations in organisms . The accurate detection of SNPs can help distinguish the genome of one individual from another and provide clinical diagnosis of particular genetic predispositions toward a certain disease. , Currently, most DNA and SNPs diagnostics require both a detection method and a signal transducer. − The detection method for the sequence-specific recognition of DNA usually makes use of the special property of single-stranded DNA (ssDNA) to base pair with high specificity to a complementary molecular probe, and a signal transducer convers the recognition into a signal that can be quantitatively measured.…”