Volume 19, Issue 1 (5-2005)                   Med J Islam Repub Iran 2005 | Back to browse issues page

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RADPOUR R, HAGHIGHI M M, OHADI M, BROUMAND B, NAJMABADI H, HAGIBEIGI A. 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. Med J Islam Repub Iran 2005; 19 (1) :65-75
URL: http://mjiri.iums.ac.ir/article-1-419-en.html
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
RAMIN RADPOUR , MAHDI M. HAGHIGHI , MINA OHADI , BEHROOZ BROUMAND , HOSSEIN NAJMABADI , ASGHAR HAGIBEIGI
Department of Clinical Genetics and Infertility, Reproductive Biomedicine Research Center of RoyanInstitute, Tehran.Iran. , rradpour@royaninstitute.org
Abstract:   (5657 Views)

 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.

Keywords: ADPKD, microsatellite marker, genetic diagnosis, linkage analysis.
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Type of Study: Original Research: Basic Science in Medicine | Subject: Medical Genetics
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