Screening for the presence of Q4010X, E4024X and Q4041X mutations and P4209p polymorphism in PKD1 gene in Jordan

摘要

Aim. Autosomal dominant polycystic kidney disease (ADPKD) is a widespread genetic disease that causes renal failure. One of the genes that is responsible for this disease, PKD 1, has been identified and characterized by using the polymerase chain reaction (PCR) and restriction fragment polymorphism (RFLP) analysis. Methods. Fifty individuals from 33 different unrelated Jordanian families and 50 matched case-control pairs have been screened for the presence of three nonsense mutations (Q4010X, Q4041Xand E4024X); One missense mutation (G4031D), two intragenic polymorphisms I4044V (Al2341G) and P4209P (T12838C). Results and conclusion. It has been found that in a nonsense mutation (Q4010X); a glycine changed to a stop codon in one patient. I4044V polymorphism insignificantly correlated with ADPKD patients (P=0.99). In contrast there was a significantly increased in ADPKD susceptibility among Jordanian individuals havingthey both variant alleles of P4209P polymorphism (p=0.04). Furthermore, ADPKD insignificantly correlated to age and sex (P=0.42 and P=0.68 respectively).with male patients having slightly lower risk in comparison with female patients (OR=5.39 and 95% C.I 0.39-32.27).