COMPOSITIONS AND METHODS FOR GENETIC ANALYSIS OF POLYCYSTIC KIDNEY DISEASE

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 provi...

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Bibliographische Detailangaben
Hauptverfasser:	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
Sprache:	eng ; fre
Schlagworte:	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
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Beschreibung
Zusammenfassung:	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 dacides nucléiques pour la détection de mutations dans un gène PKD-1 ou PKD-2, ainsi que des biomarqueurs pour lADPKD. Linvention concerne en outre des procédés pour diagnostiquer lADPKD chez un individu, et des trousses pour exécuter les procédés de linvention. Linvention concerne également un procédé pour déterminer la présence ou labsence du gène mutant PKD chez un individu.