en Medical Genetics Medical Genetics Original Research: Basic Science in Medicine Original Research: Basic Science in Medicine <p> <strong>ABSTRACT</strong></p><p> <strong>Background:</strong> 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.</p><p> <strong>Methods:</strong> 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.</p><p> <strong>Results: </strong>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.</p><p> <strong>Conclusion:</strong> 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.</p> ADPKD, microsatellite marker, genetic diagnosis, linkage analysis. 65 75 http://mjiri.iums.ac.ir/browse.php?a_code=A-10-1-264&slc_lang=en&sid=1 RAMIN RADPOUR rradpour@royaninstitute.org 20031947532846006691 20031947532846006691 Yes Department of Clinical Genetics and Infertility, Reproductive Biomedicine Research Center of RoyanInstitute, Tehran.Iran. MAHDI M. HAGHIGHI 20031947532846006692 20031947532846006692 No the Genetic Research Center of Social Welfare and Rehabilitation Sciences University, Tehran MINA OHADI 20031947532846006693 20031947532846006693 No the Genetic Research Center of Social Welfare and Rehabilitation Sciences University, Tehran BEHROOZ BROUMAND 20031947532846006694 20031947532846006694 No Rasoul Akram Hospital, Iran University of Medical Sciences, Tehran, Iran. HOSSEIN NAJMABADI 20031947532846006695 20031947532846006695 No the Genetic Research Center of Social Welfare and Rehabilitation Sciences University, Tehran ASGHAR HAGIBEIGI 20031947532846006696 20031947532846006696 No the Genetic Research Center of Social Welfare and Rehabilitation Sciences University, Tehran