COMPOSITIONS AND METHODS FOR GENETIC ANALYSIS OF POLYCYSTIC KIDNEY DISEASE

• Main Authors: HENNIGAN, AIDAN NOEL, FLYNN, KERRY ELLEN, CURRAN, JOHN A, ROBICHAUD, NORMAND J, ALLEN, SUSAN KIMBERLY, GARCES, JORGE A, WANG, JING, PALATUCCI, CHRISTOPHER M, JONES, JEFFREY GEORGE
• Format: Patent
• Language: English; French
• Published: 12.04.2003
• Edition: 7
• Subjects: BEER; BIOCHEMISTRY; CHEMISTRY; COMPOSITIONS OR TEST PAPERS THEREFOR; COMPOSITIONS THEREOF; CONDITION-RESPONSIVE CONTROL IN MICROBIOLOGICAL ORENZYMOLOGICAL PROCESSES; CULTURE MEDIA; ENZYMOLOGY; INVESTIGATING OR ANALYSING MATERIALS BY DETERMINING THEIRCHEMICAL OR PHYSICAL PROPERTIES; MEASURING; MEASURING OR TESTING PROCESSES INVOLVING ENZYMES, NUCLEICACIDS OR MICROORGANISMS; METALLURGY; MICROBIOLOGY; MICROORGANISMS OR ENZYMES; MUTATION OR GENETIC ENGINEERING; PHYSICS; PROCESSES OF PREPARING SUCH COMPOSITIONS; PROPAGATING, PRESERVING OR MAINTAINING MICROORGANISMS; SPIRITS; TESTING; VINEGAR; WINE

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 o f the invention.