Detection Of The Mutations And Polymorphisms Of PKD2 In Chinese

Objective:To set up a system for detecting the mutations and polymorphisms of PKD2 and detect the mutations and polymorphisms on Chinese PKD2, and then analyze the relationship between the genotype and the phenotype.Methods: 114 individuals from 94 autosomal dominant polycystic kidney disease (ADPKD) families and 50 healthy volunteers were enrolled in the study. The genomic DNA of the white blood cells from patients and volunteers was isolated with DNA isolation kids, amplified by polymerase chain reaction (PCR) with the primers designed according to PKD2 sequence, and analyzed by single strand complement polymorphism (SSCP). DNA samples of abnormal bands were sequenced. The clinical materials were analyzed by statistical methods to find the relationship between the genotype and the phenotype.Results: 6 mutations and 2 polymorphisms were identified, including 2 nonsense mutations, 3 missense mutations and 1 deletion mutation. Two mutations were found in exonl (C133-G and G568--A), which resulted in the translation changes (Arg45-Gry and Alal90-Thr). The third mutation was detected in exon4 (C964-T), with the amino acid change (Arg322 -Trp). The fourth and fifth mutation occurded in exon5(C1249-T) and exonl 3(C2407-~T) respectively, which caused a stop code. The last one was also in exonl 3 (deleteA at 2401), which cause a frame shift mutation. 2 polymorphisms were in exonl and exon7, and both did not cause the translation change. 2 mutations and 1 polymorphism in this studyhave been reported in Caucasian population.The results of clinical materials analysis suggested that the clinical symptoms of ADPKD2 were less severe than that of ADPKD1, which was same as reported in Caucasian population.Conclusion: The methods of direct detecting the mutations and polymorphisms in Chinese PKD2 have been developed and used successfully in identifying 6 mutations and 2 polymorphisms. It will be useful to diagnose the ADPKD patients in advance of cysts formation and birth, and it will also be helpful to study the molecular mechanism of ADPKD.