DIAGNOSTIC TEST FOR THE DETECTION OF CHROMOSOMAL ABNORMALITIES IN A FETUS

• Main Authors: LIDDLE, STUART, LEVETT, LISA, JULIA
• Format: Patent
• Language: English; French
• Published: 22.05.2003
• 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

A method for the diagnosis of aneuploidy of a chromosome in a fetus is provided using the polymerase chain reaction. The method utilises a multiplex PCR assay comprising a plurality of chromosome-specific short tandem repeat markers. The method can be used to diagnose fetal trisomy and monosomy responsible for disease conditions such as Down Syndrome and Turner Syndrome, respectively. The method can also be used to diagnose the presence of other genetic conditions such as cystic fibrosis. Cette invention concerne une méthode conçue pour le diagnostic d'aneuploïdie d'un chromosome chez un foetus, au moyen de la réaction en chaîne de polymérase. Cette méthode utilise un dosage PCR multiplex renfermant une pluralité de marqueurs de microsatellites spécifiques de chromosomes. On peut employer ladite méthode pour diagnostiquer une trisomie et une monosomie foetales responsables de troubles, tels que le syndrome de Down et le syndrome de Turner. On peut également utiliser la méthode pour diagnostiquer la présente d'autres troubles génétiques, tels que la mucoviscidose.