Determining PKHD1 gene exon 14, 15, 16, 32, 33, 34, 53, 54, 58 and 60 mutations by DNA sequence analysis in autosomal recessive polycystic kidney disease patients

Autosomal Recessive Polycystic Kidney Disease (ARPKD) is a single gene disorder with kidney and liver involvement. PKHD1 (Polycystic Kidney and Hepatic Disease 1) gene is related with this disorder and localized on 6p21.1-p12. ARPKD is separated into four groups as perinatal, neonatal, infantile and juvenile, according to the onset age of the signs of the disease. Degree of the renal and hepatic involvement changes among these four groups when 30-50% of the patients die soon after their birth in neonatal group because of respiratory failure. Main signs of the disease are the renal cysts which are usually bilateral, dilatation in collecting ducts and liver, respiratory failure, hypertension and urinary tract infections. In studies, the prevalence of ARPKD is shown to be 1:20.000 to 1:40.000 with a carrier frequency of 1:70.Study carried out in 33 unrelated patients and non-life mother and father of two patients by taking DNA was isolated from the peripheral blood. By this DNA?s the 14, 15, 16, 32, 33, 34, 53, 54, 58 and 60 numbered of exons of PKHD1 gene were amplyfied by PCR (Polymerase Chain Reaction) DNA sequencing analyses was performed each PCR product of exons, the data was evaluated in the necessary condition two sides PCR and repeat was performed. The mutatons and SNP?s were determined by evaluating the sequencing data.The PCR-sequencing analyses results at the 10 of 67 exons in the PKHD1 gene, 33 patients sent from different institutions and at 3 of 2 each parents was single, at ten of them were 2 and at one of them was 3 mutations optained.