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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
Behrooz Broumand, Hossein Najmabadi, Asghar Hagibeigi, Ramin Radpour, Mahdi Montazer Haghighi, Mina Ohadi
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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.