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. , ...Daha Fazla

TURKISH JOURNAL OF NEPHROLOGY, cilt.29, ss.304-309, 2020 (ESCI İndekslerine Giren Dergi) identifier

  • Cilt numarası: 29 Konu: 4
  • Basım Tarihi: 2020
  • Doi Numarası: 10.5152/turkjnephrol.2020.4300
  • Dergi Adı: TURKISH JOURNAL OF NEPHROLOGY
  • Sayfa Sayıları: ss.304-309

Özet

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.