Background Autosomal dominant polycystic kidney disease (ADPKD) is a systemic conditions with cardinal symptom of bilateral multiple renal cysts of variable sizes. ADPKD is genetically heterogeneous, Mendelian disorder, shows late onset and contributes 8-10% cases of end stage renal disease (ESRD). Linkage analysis in ADPKD familial cases revealed approximately 85% cases of PKD1, rest cases of PKD2 and an unidentified locus. Materials & methods In the present study occurrence of mutation, amino acid change and three frequently observed SNPs from 3’single copy region (exon 44-46) and in 5’ duplicated region (exon 2-11) of were screened in 47 patients (24 sporadic and 23 familial) and in control individuals to search the responsible and/or susceptible spots for ADPKD in Indian patients using direct DNA sequencing of specified exons and RFLP for SNP assay. PKD1 exons 44-46 encoding intracellular and exons 2-11 encoding ligand binding domains, Ig-like PKD domains in extracellular compartment with their suggested role in cell signaling and cell adhesion were chosen for this study. Results