COMPOSITION AND METHOD OF GENE ANALYSIS FOR POLYCYSTIC KIDNEY

PROBLEM TO BE SOLVED: To provide a method of testing the gene for identifying the gene alteration relating to the autosomal dominant polycystic kidney or for identifying the nonexistence of such gene alteration. SOLUTION: This invention relates to methods for detection of mutations in a PKD gene usi...

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Hauptverfasser: AIDAN NOEL HENNIGAN, JIN WAN, SUSAN KIMBERLY ALLEN, KELLY ELLEN FLYNN, ROBICHAUD NORMAND J, JEFFREY GEORGE JONES, JORGE A GARCES, JOHN A CALLAN, CHRISTOPHER M PARATOUCCHI
Format: Patent
Sprache:eng
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Zusammenfassung:PROBLEM TO BE SOLVED: To provide a method of testing the gene for identifying the gene alteration relating to the autosomal dominant polycystic kidney or for identifying the nonexistence of such gene alteration. SOLUTION: This invention relates to methods for detection of mutations in a PKD gene using DHPLC. This 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. COPYRIGHT: (C)2003,JPO