Examining the Role of Polymorphisms in Exon 25 of the PKD1 Gene in the Pathogenesis of Autosomal Dominant Polycystic Kidney Disease in ranian Patients.

ABSTRACT:

Background

Autosomal dominant polycystic kidney disease (ADPKD) is a highly prevalent life-threatening monogenic disorder with high morbidity and mortality. Roughly 1:400-1000 individuals are affected with this disease worldwide. The development of ADPKD is largely attributed to mutations in the polycystic kidney disease (PKD)1 and PKD2 genes. However, the pathogenicity of the different polymorphisms in PDK1 in the development of ADPKD remains unclear. The aim of this study was to further elucidate the role of the polymorphisms in exon 25 of the PDK1 gene in relation to the pathogenesis of ADPKD in Iranian patients.

Methods

The genomic DNA of 36 Iranian patients with ADPKD was isolated using the standard salting out method. The PCR products were directly

SUBMITTER: Bagheri M 

PROVIDER: S-EPMC6844614 | biostudies-literature | 2019 Jul

REPOSITORIES: biostudies-literature