Diagnosis Of ADPKD By Using Gene Chips

Objective: Autosomal dominant polycystic kidney disease (ADPKD) is one of the most common inherited renal diseases. The incidence is 1:1,000. It causes 1/10 of all renal failure. Polycystic kidney disease progresses slowly but persistently, and Eventual end-stage renal failure is common. Currently, no treatment can prevent the cysts from forming or enlarging. Treatment goals are the reduction of symptoms and prevention of complications. So the prenatal diagnosis by molecular genetics methods is of much importance. There are at least three different genes: PKD1, PKD2 and Tg737, are involved in ADPKD. Mutations of PKD1 are thought to account for approximately 85% of all mutations in ADPKD and over 200 mutations of PKD1 have been described to date. The gene chip technique, which is springing up recently, has shown great potential in the molecular genetics research. The gene chip, in fact, is a high-density nucleic acid array, which fix up a large number of nucleic acid segments (probes) with special sequences on'the slides, analyzing the sequences of samples of nucleic acid unkown by hybridization with probes. Contrast with those traditional methods of gene diagnosis, this technique can be used to sequences and analysis rapidly, largely and exactly. The aim of the present study was to explore the application value of the diagnostic genechip in determining ADPKD.Methods: Twenty-four blood relatives of a PKD-affected individual with the novel mutation C12217T and three controls participate in the study. All blood samples were obtained after receiving informed consent and were in accordance with institutional guidelines. Genomic DNA was isolated and PCR amplification of genomic DNA of those affected individuals of the family was performed to generate aimed fragments. Amplified fragments were analyzed by cloning and sequencing. Then the aimed fragments of the genomic DNA of these twenty-seven individuals...