Identification of C/t Genetic Marker in Autosomal Polycystic Kideny Disease among South Indian Population (madurai)

Autosomal dominant polycystic kidney disease (ADPKD) is a common disease among different population in worldwide. Mutations in the PKD1 gene on 16p13.3 are responsible for ~85% of cases of polycytic kidney disease. Until now, more than 1000 single nucleotide polymorphism (SNP) have been reported as genetic marker in different population. Hence, the study aimed to C/T polymorphism in PKD1 gene. Three hundred South Indian patients with clinically proven ADPKD were selected for C/T (PKD1 gene) gene polymorphism is identified with PCR, RFLP. Allelic frequency calculated using Hardy-Weinberg equilibrium (p+q=1) and the significant difference is found by chi-square test. C/T polymorphism at position 4058 in exon 45 of the PKD1 gene with ADPKD revealed that “TT”, “CT” genotype and frequency mutant allele “T” is found to be significantly (at p<0.001) higher in patients compare to control subjects. The study concluded that, C/T transition mutation in exon 45 among South Indian patients is described. It is a single nucleotide polymorphism and autosomal dominant mutation, which is found to be equal distribution in both male and female. It is also demonstrated that “two –hit model of cytogenesis due to not only mutation in PKD1 also includes mutation in PKD2.