Compositions and methods for genetic analysis of polycystic kidney disease

The subject invention relates to methods for detection of mutations in a PKD gene using DHPLC. The invention includes the following aspects: identification of PKD unique sites; design of PKD-specific primers; amplification of PKD-specific products; and analysis of PCR amplified products by DHPLC. Th...

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Bibliographische Detailangaben
Hauptverfasser: Jones, Jeffrey George, Hennigan, Aidan Noel, Curran, John A, Allen, Susan Kimberly, Robichaud, Normand J, Wang, Jing, Flynn, Kerry Ellen, Garcés, Jorge A, Palatucci, Christopher M
Format: Patent
Sprache:eng
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Zusammenfassung:The subject invention relates to methods for detection of mutations in a PKD gene using DHPLC. The invention includes the following aspects: identification of PKD unique sites; design of PKD-specific primers; amplification of PKD-specific products; and analysis of PCR amplified products by DHPLC. The invention further relates to compositions such as identified unique sites and PKD-specific primers, and kits for performing the methods of the invention.