• Investigating the effect of common mutation of SLC3A1,CLDN14,ALPLgenes in kidney stone patients in Tehran
  • Mina salamat nikikand,1,* *faranak jamshidian,2 Maryam rouhani,3 Majid mesgar tehrani,4
    1. Department of Biology, East Tehran Branch, Islamic Azad University, Tehran, Iran
    2. Department of Biology, East Tehran Branch, Islamic Azad University, Tehran, Iran
    3. Department of Tissue Engineering and Applied Cell Sciences, School of Advanced Technologies in Medicine, Shahid Beheshti University of Medical Sciences, Tehran, Iran
    4. Social Health Research Center, Shahid Beheshti University of Medical Sciences, Tehran, Iran


  • Introduction: Kidney stone disease, also known as nephrolithiasis or urolithiasis, is one of the oldest diseases known to medicine. It is estimated that 1-15% individuals suffer from kidney stone formation at some point during their lifetime, and the prevalence and incidence of kidney stone is reported to be increasing worldwide .Without proper treatment, kidney stones can cause the blockage of the ureter, blood in the urine, frequent urinary tract infections, vomiting or painful urination, culminating in the permanent functional damage of the kidneys .The worldwide prevalence of urolithiasis has increased over the past decades. Urolithiasis is often a recurrent and lifelong disease with a recurrence rate of 50% within 5-10 years and 75% within 20 years . Some studies have indicated that an increase in kidney stone occurrence is expected, due to multiple environmental factors, including changes in lifestyle and dietary habits, as well as global warming . Due to its high prevalence in adults of working age, kidney stone disease has a substantial impact on the individual and society, and has become a public health issue, particularly in populations residing in regions with a hot and dry climate . There are mainly five types of kidney stones according to the mineralogical composition, including calcium oxalate (CaOx; 65.9%), carbapatite (15.6%), urate (12.4%), struvite [(magnesium ammonium phosphate), 2.7%], brushite (1.7%) . Kidney stones can be broadly categorized into calcareous (calcium containing) stones and non-calcareous stones. The most common types of human kidney stones are CaOx and calcium phosphate , either alone or combined, which are calcareous and radio-opaque stones . Kidney stones form at a foundation of CaP termed Randall's plaques , which begins at the basement membranes of thin limbs of the loop of Henle on the renal papillary surface . CaOx and urate stones exhibit a higher occurrence in males, whereas higher percentages of carbapatite and struvite stones are observed in females than in males . Several GWAS have been performed in kidney stone. In a GWAS, several million common DNA variants, so-called single nucleotide polymorphisms (SNPs) scattered throughout the genome, are tested in large groups for association with a trait. Our aim is to investigate the SNP in the common genes SLC3A1, CLDN14, ALPL, which causes early diagnosis in people with kidney stone disease and helps to improve these people in the society. Our subject by evaluating the occurrence of common mutations with the examined SNPs(Rs200483989,Rs219780,RS1256328)
  • Methods: Using the PCR technique, The primary purpose of polymerase chain reaction (PCR) is to rapidly make many copies of a specific region of DNA or RNA so that it can be adequately identified, often by agarose gel electrophoresis. PCR is commonly used to amplify, modify and clone genes for expression studies. There are many uses for PCR, including paternity testing, biological relationships, mouse genotyping, diagnosing genetic diseases, forensics, and finding bacteria and viruses. we check the SNP sequences of SLC3A1,CLDN14and ALPL genes ،Single nucleotide polymorphisms (SNPs) are DNA sequence changes that occur when a single nucleotide in the genome is different in paired chromosomes. Some SNPs change the amino acid sequence of a protein in the coding region, and others in the coding region. , do not affect the protein sequence. SNPs outside the coding region may also affect transcription factor binding, gene splicing, or mRNA degradation. With or without such effects on the biological function of gene products, SNPs serve as markers for investigating imbalances. Linkage and detection of genetic polymorphisms are very useful in population genetics research and medical sciencewith gene expression , and by observing the electrophoresis gel, we find out the effect of gene expression and mutation of these genes on kidney stone disease.
  • Results: This project helps us to inform the patient about the occurrence of mutations in the desired genes and the risk of developing kidney stone.
  • Conclusion: Our topic has not been evaluated by evaluating the common mutations with the investigated SNPs Rs200483989,Rs219780,RS1256328, congenital genetic disease of kidney stone in Tehran, and changing the genotypic structure in the mutations that occurred and evaluating the phenotypic evidence in kidney stone patients depending on the social genotype of a country. it must be done
  • Keywords: Kidney stone- SLC3A1,CLDN14,ALPL genes-SNP