molecular study of pkd1 & pkd2 genes by linkage analysis and determining the genotype/phenotype correlations in several iranian families with autosomal dominant polycystic kidney disease

abstract background: autosomal dominant polycystic kidney disease (adpkd) is an inherited disorder with genetic heterogeneity. up to three loci are involved in this disease, pkdi on chromosome 16p13.3, pkd2 on 4q21, and a third locus of unknown location. methods: here we report the first molecular genetic study of adpkd and the existence oflocus heterogeneity for adpkd in the iranian population by performing linkage analysis on 15 affected families. results: eleven families showed linkage to pkd 1 and two families showed linkage to pkd2. in two families, pkd 1 markers are common in all affected members but pkd2 markers were not informative. conclusion: the results of this study demonstrate significant locus heterogeneity in autosomal dominant pkd in iran. analysis of clinical data confirms a milder adpkd phenotype for pkd2 families. our results showed relatively high heterozygosity rates and pic values for some markers, while the most informative markers were kg8 and 16ac2.5 for pkd 1 gene and afm224x6 for pkd2 gene.