COMPOSITIONS AND METHODS FOR GENETIC ANALYSIS OF POLYCYSTIC KIDNEY DISEASE

• Main Authors: CURRAN, JOHN A, ALLEN, SUSAN K, ROBICHAUD, NORMAND J, JONES, JEFFREY G, GARCES, JORGE A, HENNIGAN, AIDAN N, WANG, JING, SELTZER, WILLIAM K, PALATUCCI, CHRISTOPHER M, FLYNN, KERRY E
• Format: Patent
• Language: English; French
• Published: 15.01.2019
• Subjects: BEER; BIOCHEMISTRY; CHEMISTRY; COMPOSITIONS OR TEST PAPERS THEREFOR; COMPOSITIONS THEREOF; CONDITION-RESPONSIVE CONTROL IN MICROBIOLOGICAL ORENZYMOLOGICAL PROCESSES; CULTURE MEDIA; DERIVATIVES THEREOF; 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; NUCLEIC ACIDS; NUCLEOSIDES; NUCLEOTIDES; ORGANIC CHEMISTRY; PEPTIDES; PHYSICS; PROCESSES OF PREPARING SUCH COMPOSITIONS; PROPAGATING, PRESERVING OR MAINTAINING MICROORGANISMS; SPIRITS; SUGARS; TESTING; VINEGAR; WINE

The subject invention relates to nucleic acid sequences for detection of mutations in a PKD-1 or PKD-2 gene, as well as biomarkers for ADPKD. The invention further relates to methods for diagnosing ADPKD in an individual, and kits for performing the methods of the invention. The invention also provides a method for determining in an individual the presence or absence of a mutant PKD gene. La présente invention concerne des séquences dacide nucléique pour la détection de mutations dans un gène PKD-1 ou PKD-2, ainsi que des biomarqueurs de la PKRAD. Linvention concerne en outre des procédés de diagnostic de la PKRAD chez un individu et des kits pour la mise en uvre des procédés de linvention. Linvention concerne également un procédé permettant de déterminer chez un individu la présence ou labsence dun gène PKD mutant.