Analysis of PKD1 and PKD2 Gene Mutations for Autosomal Dominant Polycystic Kidney Disease Cases in Turkish Population
TURKISH JOURNAL OF NEPHROLOGY, cilt.29, sa.4, ss.304-309, 2020 (ESCI)
- Yayın Türü: Makale / Tam Makale
- Cilt numarası: 29 Sayı: 4
- Basım Tarihi: 2020
- Doi Numarası: 10.5152/turkjnephrol.2020.4300
- Dergi Adı: TURKISH JOURNAL OF NEPHROLOGY
- Derginin Tarandığı İndeksler: Emerging Sources Citation Index (ESCI), Scopus, TR DİZİN (ULAKBİM)
- Sayfa Sayıları: ss.304-309
- Sivas Cumhuriyet Üniversitesi Adresli: Evet
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.