C - Chemistry – Metallurgy – 12 – Q
Patent
C - Chemistry, Metallurgy
12
Q
C12Q 1/68 (2006.01)
Patent
CA 2312273
New mutations have been found in the BRCA1 gene. The mutations are located at nucleotide numbers 421-2, 815, 903, 926, 1506, 2034, 2428, 3888, 3904, 4164, 4643, 5053, 5150, 5210, or 5396+40 of the gene sequence of BRCA1. A process for identifying a sequence variation in a BRCA1 polynucleotide sequence is disclosed. The identification process includes allele specific sequence-based assays of known sequence variations. The methods can be used for efficient, and accurate detection of a mutation in a test BRCA1 gene sample.
On a découvert des nouvelles mutations dans le gène de BRCA1. Ces mutations se situent au niveau des numéros de nucléotides 421-2, 815, 903, 926, 1506, 2034, 2428, 3888, 3904, 4164, 4643, 5053, 5150, 5210 ou 5396+40 de la séquence génique de BRCA1. Un procédé d'identification de la modification de séquence dans la séquence polynucléotidique de BRCA1 est décrit. Ledit procédé d'identification consiste en des essais de séquences spécifiques à un allèle, de modifications de séquence connues. Lesdits procédés peuvent être utilisés pour la détection précise et efficace d'une mutation dans un échantillon de gène de BRCA1 à analyser.
Allen Antonette P.
Angelly Tracy S.
Lawrence Tammy
Lescallett Jennifer L.
Murphy Patricia D.
Gene Logic Acquisition Corp.
Gene Logic Inc.
Kirby Eades Gale Baker
LandOfFree
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