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

نویسندگان

ramin radpour department of clinical genetics and infertility, reproductive biomedicine research center of royaninstitute, tehran.iran.

mahdi m. haghighi the genetic research center of social welfare and rehabilitation sciences university, tehran

mina ohadi the genetic research center of social welfare and rehabilitation sciences university, tehran

behrooz broumand rasoul akram hospital, iran university of medical sciences, tehran, iran.

چکیده

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.

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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

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Genetic Heterogeneity of PKD1 and PKD2 Genes in Iran and Determination of the Genotype/Phenotype Correlations in Several Families with Autosomal Dominant Polycystic Kidney Disease

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genetic heterogeneity of pkd1 and pkd2 genes in iran and determination of the genotype/phenotype correlations in several families with autosomal dominant polycystic kidney disease

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عنوان ژورنال:
medical journal of islamic republic of iran

جلد ۱۹، شماره ۱، صفحات ۶۵-۷۵

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