EVALUATION OF PKD2 GENE (G/C) POLYMORPHISM IN PATIENTS WITH AUTOSOMAL DOMINANT POLYCYSTIC KIDNEY DISEASE AMONG SOUTH INDIANS (MADURAI).

Abstract

Polycystic kidney disease (PKD) is the leading causes of end-stage renal failure (ESRD) and a common indication of dialysis / renal transplantation. Autosomal dominant polycystic kidney disease (ADPKD) and autosomal recessive polycystic kidney disease (ARPKD) are the two forms of PKD. ADPKD is one of the most common monogenic inherited disorders with an approximate frequency of 1:500 individuals in different population. The PKD1 and PKD2 are on chromosomes 16p13.3 and 4q 13-23 and the most common cause of ADPKD is mutation in PKD1 and PKD2 genes. Hence the study aimed to analyze PKD2 (G/C) polymorphism. The study comprised of 50 ADPKD patients and 50 age, sex matched healthy individuals as a control subjects were selected among South Indian (Madurai) population. Single nucleotide polymorphism (SNP) study was carried out by isolating DNA which was subjected to PCR and RFLP analysis. The results showed to be  G/C polymorphism at position 83 in exon 1 of the PKD2 gene among South Indian (Madurai) population with ADPKD and it also revealed that the “CC” “GC” mutant genotype and mutant  “C” allelic frequency were found to be higher in patients (0.65) than in control subjects (0.38). The statistical analysis (chi – square test) showed that the frequency of mutant allele was significantly (at p<0.05) higher in ADPKD patients when compared to control subjects. Therefore, the current study found that an association of PKD2 gene polymorphism and ADPKD among South Indian (Madurai) population.

KEY WORDS: PKD 1 gene, allelic frequency, genotype, ARPKD, polycystin.