PKD2 mutation in an Iranian autosomal dominant polycystic kidney disease family with misleading linkage analysis data.

ABSTRACT:

Background

Autosomal dominant polycystic kidney disease (ADPKD) is the most common genetic renal disorder caused by mutation in 2 genes PKD1 and PKD2. Thus far, no mutation is identified in approximately 10% of ADPKD families, which can suggest further locus heterogeneity. Owing to the complexity of direct mutation detection, linkage analysis can initially identify the responsible gene in appropriate affected families. Here, we evaluated an Iranian ADPKD family apparently unlinked to both PKD1 and PKD2 genes. This is one of the pioneer studies in genetic analysis of ADPKD in Iranian population.

Methods

Linkage reanalysis was performed by regenotyping of flanking microsatellite markers in 8 individuals of the ADPKD family. Direct mutation analysis was performed by Sanger sequ

SUBMITTER: Entezam M 

PROVIDER: S-EPMC4919558 | biostudies-literature | 2016 Jun

REPOSITORIES: biostudies-literature