Method for diagnosing an increased risk for thrombosis or a genetic defect causing thrombosis and kit for use with the same
First Claim
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1. A method for diagnosing an increased risk for thrombosis or a genetic defect causing thrombosis comprising the steps of:
- (A) obtaining, from a test subject, test nucleic acid comprising codon 506 within EXON 10 of the human Factor V gene; and
(B) assaying for the presence of a point mutation in the nucleotides of codon 506 within EXON 10 of the human Factor V gene, wherein said point mutation correlates to a decrease in the degree of inactivation of human Factor V and/or human Factor Va by activated protein C, wherein the presence of said point mutation in said test nucleic acid indicates an increased risk for thrombosis or a genetic defect causing thrombosis.
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Abstract
Method for screening for the presence of a genetic defect associated with thrombosis and/or poor anticoagulant response to activated protein C (APC). The method is directed at detecting one or more mutations at one or more of the cleavage and/or binding sites for APC of Factor V and/or Factor Va or at Factor VIII and/or Factor VIIIa at either nucleic acid or protein level or both.
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Citations
29 Claims
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1. A method for diagnosing an increased risk for thrombosis or a genetic defect causing thrombosis comprising the steps of:
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(A) obtaining, from a test subject, test nucleic acid comprising codon 506 within EXON 10 of the human Factor V gene; and
(B) assaying for the presence of a point mutation in the nucleotides of codon 506 within EXON 10 of the human Factor V gene, wherein said point mutation correlates to a decrease in the degree of inactivation of human Factor V and/or human Factor Va by activated protein C, wherein the presence of said point mutation in said test nucleic acid indicates an increased risk for thrombosis or a genetic defect causing thrombosis. - View Dependent Claims (2, 3, 4, 5, 6, 7, 8, 9, 10, 11, 12, 13, 14, 15, 16, 17, 18)
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- 19. A kit for diagnosing an increased risk for thrombosis or a genetic defect causing thrombosis comprising a forward and a reverse primer that are capable of amplifying EXON 10 of the human Factor V gene.
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28. An isolated nucleic acid molecule consisting of SEQ ID NO:
- 14 or its complementary strand.
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29. An isolated nucleic acid molecule consisting of a nucleic acid sequences selected from the group consisting of SEQ ID NO:
- 4, SEQ ID NO;
5, SEQ ID NO;
9, SEQ ID NO;
10, SEQ ID NO;
11, SEQ ID NO;
12 and SEQ ID NO;
13, or the complementary strand thereof.
- 4, SEQ ID NO;
Specification