EP 1242619 A2 20020925 - ASSAY FOR DETECTION OF HUMAN CFTR ALLELE VARIANTS USING SPECIFIC DIAGNOSTIC PRIMERS
Title (en)
ASSAY FOR DETECTION OF HUMAN CFTR ALLELE VARIANTS USING SPECIFIC DIAGNOSTIC PRIMERS
Title (de)
VERFAHREN ZUR DETEKTION HUMANER CFTR ALLELVARIANTEN MITTELS SPEZIFISCHER DIAGNOSTISCHER PRIMER
Title (fr)
METHODE DE DETECTION DES VARIANTS ALLELIQUES DU CFTR HUMAIN UTILISANT DES AMORCES DIGNOSTIQUES SPECIFIQUES
Publication
Application
Priority
- GB 0003597 W 20000919
- GB 9922527 A 19990924
Abstract (en)
[origin: WO0121833A2] A diagnostic method for the detection of the 5T, 7T and 9T alleles in intron (8) of the human CFTR gene which method comprises contacting a test sample of nucleic acid from an individual with a multiplex of diagnostic primers comprising (i) 5T variant primer 5'(N)nAAAGAC3', (ii) 7T variant primer 5'(N*)n*(N)nAAAAGC3' and (iii) 9T variant primer 5'(N*)n*(N)nAAAATC3', wherein N represents additional nucleotides which base pair with the corresponding genomic sequence in the respective allele and n is an integer between 10 and 30 and N* represents additional non-homologous nucleotides which do not base pair with the corresponding genomic sequence in the respective allele and n* is an integer between 5 and 60, in the presence of appropriate nucleotide triphosphates and an agent for polymerisation, such that a diagnostic primer is extended only when the corresponding allelic variant is present in the sample; and detecting the presence or absence of the allelic variant by reference to the presence or absence of a diagnostic primer extension product.
IPC 1-7
IPC 8 full level
C12Q 1/68 (2006.01); C12Q 1/6883 (2018.01)
CPC (source: EP)
C12Q 1/6883 (2013.01); C12Q 2600/172 (2013.01)
Citation (search report)
See references of WO 0121833A2
Designated contracting state (EPC)
AT BE CH CY DE DK ES FI FR GB GR IE IT LI LU MC NL PT SE
DOCDB simple family (publication)
WO 0121833 A2 20010329; WO 0121833 A3 20020725; AU 7302200 A 20010424; CA 2385920 A1 20010329; EP 1242619 A2 20020925; GB 9922527 D0 19991124
DOCDB simple family (application)
GB 0003597 W 20000919; AU 7302200 A 20000919; CA 2385920 A 20000919; EP 00960854 A 20000919; GB 9922527 A 19990924