Title:
NOVEL ALLELIC VARIANTS IN THE FACTOR VII GENE
Document Type and Number:
WIPO Patent Application WO2004011675
Kind Code:
A3
Abstract:
The invention relates to novel allelic variants in the factor VII gene. The presence of at least one of said allelic variants affects the stability and/or functionality of the nucleic acid molecule and/or the product coded by said nucleic acid molecule. The method of analysing a nucleic acid molecule consists in obtaining said molecule from a biological sample and determining at least one allelic variant from Table 1, assigning said allelic variable to the stability and/or functionality of the nucleic acid molecule and/or the produced coded by same. The isolated product which is coded by a nucleic acid molecule and which comprises at least one allelic variant can be used as a medicament.
Inventors:
FONTCUBERTA BOJ JORDI (ES)
SORIA FERNANDEZ JOSE MANUEL (ES)
SORIA FERNANDEZ JOSE MANUEL (ES)
Application Number:
PCT/ES2003/000379
Publication Date:
April 08, 2004
Filing Date:
July 23, 2003
Export Citation:
Assignee:
FUNDACIO PRIVADA I INST DE REC (ES)
FONTCUBERTA BOJ JORDI (ES)
SORIA FERNANDEZ JOSE MANUEL (ES)
FONTCUBERTA BOJ JORDI (ES)
SORIA FERNANDEZ JOSE MANUEL (ES)
International Classes:
C12Q1/68; (IPC1-7): C12Q1/68
Other References:
DI CASTELNUOVO A ET AL: "The decunucleotide insertion/deletion polymorphism in the promoter region of the coagulation factor VII gene and the risk of familial myocardinal infarction.", THROMBOSIS RESEARCH, vol. 98, 2000, pages 9 - 17, XP002902984, ISSN: 0049-3848
WULFF K ET AL: "Twenty two novel mutations of the factor VII gene in factor VII deficiency.", HUMAN MUTATION, vol. 15, no. 6, 2000, pages 489 - 496, XP002902985
VAN 'T HOOFT F M ET AL: "Two common functional polymorphisms in the promotor region of the coagulation factor VII gene determining plasma factor VII activity and mass concentration.", BLOOD, vol. 93, no. 10, 1999, pages 3432 - 3441, XP002902986, ISSN: 0006-4971
GREEN F ET AL: "A common genetic polymorphism associated with lower coagulation factor VII levels in healthy individuals.", ARTERIOSCLEROSIS AND THROMBOSIS, vol. 11, no. 3, May 1991 (1991-05-01) - June 1991 (1991-06-01), pages 540 - 546, XP002902987
MARCHETTI G ET AL: "A polymorphism in the 5' region of coagulation factor VII gene (F7) caused by an inserted decanucleotide.", HUMAN GENETICS, vol. 90, no. 5, 1993, pages 575 - 576, XP002902988
WULFF K ET AL: "Twenty two novel mutations of the factor VII gene in factor VII deficiency.", HUMAN MUTATION, vol. 15, no. 6, 2000, pages 489 - 496, XP002902985
VAN 'T HOOFT F M ET AL: "Two common functional polymorphisms in the promotor region of the coagulation factor VII gene determining plasma factor VII activity and mass concentration.", BLOOD, vol. 93, no. 10, 1999, pages 3432 - 3441, XP002902986, ISSN: 0006-4971
GREEN F ET AL: "A common genetic polymorphism associated with lower coagulation factor VII levels in healthy individuals.", ARTERIOSCLEROSIS AND THROMBOSIS, vol. 11, no. 3, May 1991 (1991-05-01) - June 1991 (1991-06-01), pages 540 - 546, XP002902987
MARCHETTI G ET AL: "A polymorphism in the 5' region of coagulation factor VII gene (F7) caused by an inserted decanucleotide.", HUMAN GENETICS, vol. 90, no. 5, 1993, pages 575 - 576, XP002902988
Download PDF:
Previous Patent: AUTO-STIMULATING CELLS AND METHOD FOR MAKING AND USING THE SAME
Next Patent: MULTI-REPORTER GENE MODEL FOR TOXICOLOGICAL SCREENING
Next Patent: MULTI-REPORTER GENE MODEL FOR TOXICOLOGICAL SCREENING