Analysis of PKD1 and PKD2 Gene Mutations for Autosomal Dominant Polycystic Kidney Disease Cases in Turkish Population


SEZGİN İ. , KAYATAŞ M. , KÜÇÜK KURTULGAN H. , YILDIRIM M. E. , BAŞER B. , TİMÜÇİN M. , ...More

TURKISH JOURNAL OF NEPHROLOGY, vol.29, no.4, pp.304-309, 2020 (Journal Indexed in ESCI) identifier

  • Publication Type: Article / Article
  • Volume: 29 Issue: 4
  • Publication Date: 2020
  • Doi Number: 10.5152/turkjnephrol.2020.4300
  • Title of Journal : TURKISH JOURNAL OF NEPHROLOGY
  • Page Numbers: pp.304-309

Abstract

Objective: Autosomal dominant polycystic kidney disease (ADPKD), one of the most common causes of end-stage renal disease, is a monogenic, multisystemic disease characterized by renal cysts and various extrarenal findings. ADPKD is caused by mutations in the polycystic kidney disease 1 (PKD1) (16p13.3) and PKD2 (4q22.1) genes. The genetic analysis of the PKD1 gene is complex because of its large size, the presence of 6 pseudogenes, and allelic heterogeneity. In this study, we aimed to identify the mutations of the PKD1 gene in patients with ADPKD in Sivas, Turkey.