Coding sequences of the human brca1 gene

C - Chemistry – Metallurgy – 12 – N

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Details

C12N 15/12 (2006.01) A61K 38/17 (2006.01) A61K 48/00 (2006.01) C07K 14/47 (2006.01) C07K 14/82 (2006.01) C12Q 1/68 (2006.01)

Patent

CA 2218251

The invention relates to isolated coding sequences and to the protein sequences they code for. This invention is directed to three coding sequences of the BRCA1 gene. The three coding sequences, BRCA1 (omi1), BRCA1 (omi2), and BRCA1 (omi3) and their frequencies of occurrence are provided together with the protein sequences they code for. Another aspect of this invention is a method of determining the consensus sequence for any gene. Another aspect of the invention is a method of identifying an individual having an increased genetic susceptibility to breast or ovarian cancer because they have inherited a causative mutation in their BRCA1 gene. This invention is also related to a method of performing gene therapy with any of the isolated BRDCA1 coding sequences.

L'invention concerne diverses séquences codantes isolées et les séquence protéiques qu'elles codent. L'invention concerne trois séquences codantes du gène BRCA 1. L'invention a trait aux trois séquences codantes BRCA 1 (omi1), BRCA 1 (omi2) et BRCA 1 (omi3), à leur fréquence d'apparition et aux séquences protéiques qu'elles codent. La présente invention concerne également une méthode permettant de déterminer les séquences consensus de gènes. Elle concerne en outre une méthode permettant d'identifier des sujets présentant une prédisposition génétique accrue vis-à-vis du cancer du sein ou du cancer des ovaires en raison de la transmission héréditaire d'une mutation causale associée au gène BRCA 1. Enfin, l'invention concerne les thérapies géniques faisant intervenir l'une ou l'autre des séquences isolées codant BRCA 1.

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