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...

background: hearing loss (hl) is the most frequent sensory birth defect in humans. autosomal recessive non-syn­dromic hl (arnshl) is the most common type of hereditary hl. it is extremely heterogeneous and over 70 loci (known as dfnb) have been identified. this study was launched to determine the relative contribution of more frequent loci in a cohort of arnshl families. methods: thirty-seven i...

one of the most important goals for researchers in the clinic is to try to find newer and more effective ways to diagnose and cure the diseases. these clinical advances can create new points of view in other sciences and their combination with basic sciences such as statistics can improve these researches. in statistical genetics, linkage analysis is a way of finding the exact locus of a diseas...

background:   objective: in this study we performed linkage analysis on a large x linked rsa pedigree to find a novel susceptibility locus for rsa.   materials and methods: a linkage scan using 11 microsatellites was performed in 27 members of a large pedigree of hereditary x-linked rsa. two point parametric linkage was performed using superlink v 1.6 program. results: evidence of linkage was o...

background: familial hypertrophic cardiomyopathy (hcm) is caused by mutations in genes encoding cardiac sarcomere proteins. nowadays genetic testing of hcm plays an important role in clinical practice by contributing to the diagnosis, prognosis, and screening of high-risk individuals. the aim of this study was developing a reliable testing strategy for hcm based on linkage analysis and appropri...

 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 populatio...

autosomal dominant polycystic kidney disease (adpkd) is the most common genetic nephropathy, which is characterized by replacement of renal parenchyma with multiple cysts. in iran, the disease prevalence within the chronic hemodialysis patient population is approximately 8-10%. so far, three genetic loci have been identified to be responsible for adpkd. little information is available concernin...

background: autosomal recessive non-syndromic hearing loss (arnshl) is the most common hereditary form of deafness, and exhibits a great deal of genetic heterogeneity. so far, more than seventy various dfnb loci have been mapped for arnshl by linkage analysis. the contribution of three common dfnb loci including dfnb3, dfnb9, dfnb21 and gap junction beta-2 (gjb2) gene mutations in arnshl was in...