Long-range PCR in detecting mutation of polycystic kidney disease gene 1 in Hans

Objective: To specifically amplify the polycystic kidney disease gene 1(PKD1) via long range PCR. Methods: Eight pairs of primers were designed based on the differences between the PKD1 and its homologues,and the long range PCR were performed on the DNA of 2 healthy Hans, and the products were sequenced. Results: With optimum conditions of PCR(including good quality genomic DNA as templates, the higher temperature as Tm,and so on).Subsequently,we succeeded in amplifying the 34 exons of the PKD1 multicopy areas and testify them by sequence. Conclusion: The above long range PCR not only amplified the multicopy areas of the PKD1 distinctively by eliminating the interferes of its homologues,but also help to detect the PKD1 mutations of the Hans via single strand conformation polymorphism.