Looking for breakthrough ideas for innovation challenges? Try Patsnap Eureka!

Method evolved for recognition of thrombophilia (MERT)

A venous thrombosis, genetic predisposition technology, applied in the field of genetic susceptibility to venous thrombosis, can address issues such as increased risk of venous thrombosis

Inactive Publication Date: 2007-03-14
US DEPT OF HEALTH & HUMAN SERVICES
View PDF8 Cites 3 Cited by
  • Summary
  • Abstract
  • Description
  • Claims
  • Application Information

AI Technical Summary

Problems solved by technology

[0006] In addition to acquired risk factors for venous thrombosis, many apparently monogenic, autosomal dominant, variable penetrance genetic mutations or polymorphisms confer increased venous thrombosis risk

Method used

the structure of the environmentally friendly knitted fabric provided by the present invention; figure 2 Flow chart of the yarn wrapping machine for environmentally friendly knitted fabrics and storage devices; image 3 Is the parameter map of the yarn covering machine
View more

Examples

Experimental program
Comparison scheme
Effect test

Embodiment 1

[0507] Mutations and polymorphisms associated with venous thrombosis

[0508] Table 1 describes the VT-associated nucleic acid and protein sequences used to design an array that allows screening of all 143 currently known venous thrombosis-associated backmutations and polymorphisms in eight different genes. However, those skilled in the art will understand that additional reverting VT-associated mutations and polymorphisms not presently identified may also be utilized. For each potential site of mutation / polymorphism, two oligonucleotide probes were designed (see Example 3).

[0509] Gene

[0510] * Nucleotide or amino acid numbers refer to human sequences, although those skilled in the art can determine the corresponding nucleotides or amino acids in other organisms.

Embodiment 2

[0512] Statistical Analysis of Prediction of Venous Thrombosis

[0513] This example shows that by simultaneously evaluating 143 alleles in identifying individuals at very high risk of developing VT, MERT provides high numerical clinical validity, even though the contribution of each allele to the risk is small and insufficient to cause VT.

[0514]In order to demonstrate statistically that the disclosed method predicts the probability of developing venous thrombosis in healthy subjects, the following method was utilized. The results described below indicate that disease prediction of venous thrombosis is greatly improved by simultaneously considering multiple predisposing genetic factors. To demonstrate how parallel screening for multiple venous thrombosis (VT)-associated susceptibility gene defects can improve the prediction of developing VT, the probability ratios for each VT-associated susceptibility gene test were calculated by logistic regression and subsequently VT-ass...

Embodiment 3

[0532] Array for detecting susceptibility to venous thrombosis

[0533] For each potential site of mutation / polymorphism (Table 1), two oligonucleotide probes (SEQ ID NO: 1-287) were designed. The first is complementary to the wild type sequence (odd numbers of SEQ ID NO: 1-285 and SEQ ID NO: 286) and the second is complementary to the mutant sequence (even number of SEQ ID NO: 2-284 and SEQ ID NO: 287 ). For example, SEQ ID NO: 1 is complementary to a wild-type AT III sequence, and SEQ ID NO: 2 is complementary to a mutant AT III sequence, which can be used to detect the presence of a "T" insertion at nucleotide 2770. The disclosed oligonucleotide probes may further include one or more detectable labels to allow detection of a hybridization signal between the probe and the target sequence.

[0534] Compilation of hybridization signals "loss" and "gain" will reveal the genetic status of an individual with respect to the 143 known VT-related reversion defects.

the structure of the environmentally friendly knitted fabric provided by the present invention; figure 2 Flow chart of the yarn wrapping machine for environmentally friendly knitted fabrics and storage devices; image 3 Is the parameter map of the yarn covering machine
Login to View More

PUM

No PUM Login to View More

Abstract

Methods for predicting an individual's genetic risk for developing venous thrombosis in diverse ethnic populations is disclosed, as are arrays and kits which can be used to practice the method. The method includes screening for mutations, polymorphisms, or both, in at least eight venous thrombosis-related molecules, such as antithrombin III, protein C, protein S, fibrinogen, factor V, prothrombin (factor II), methylenetetrahydrofolate reductase (MTHFR), and angiotensin I-converting enzyme (ACE) molecules which are associated with venous thrombosis.

Description

[0001] Cross References to Related Applications [0002] This application claims priority to US Provisional Application 60 / 537,463, filed January 15, 2004, which is hereby incorporated by reference in its entirety. technical field [0003] The present application relates to methods of predicting an individual's genetic susceptibility to venous thrombosis, as well as kits that can be used to practice the disclosed methods. Background technique [0004] In the United States alone, venous thrombosis affects 1 in 1000 individuals per year and is a major cause of mortality and morbidity causing approximately 300,000 hospitalizations and 50,000 deaths per year (Rosendaal, Thromb. Haemost. 78: 1-6, 1997; Nordstrom et al., J. Inter. Med. 232: 155-60, 1992; and Hansson et al., Arch. Intern. Med. 157: 1665-70, 1997). [0005] Many circumstances predispose individuals to venous thrombosis. Examples of such risk factors include pregnancy, postpartum period, use of oral contraceptives ...

Claims

the structure of the environmentally friendly knitted fabric provided by the present invention; figure 2 Flow chart of the yarn wrapping machine for environmentally friendly knitted fabrics and storage devices; image 3 Is the parameter map of the yarn covering machine
Login to View More

Application Information

Patent Timeline
no application Login to View More
IPC IPC(8): C12Q1/68
CPCC12Q2600/156C12Q1/6883
Inventor 希格迪姆·F·多乌卢欧文·M·伦纳特陈伟仪
Owner US DEPT OF HEALTH & HUMAN SERVICES
Who we serve
  • R&D Engineer
  • R&D Manager
  • IP Professional
Why Patsnap Eureka
  • Industry Leading Data Capabilities
  • Powerful AI technology
  • Patent DNA Extraction
Social media
Patsnap Eureka Blog
Learn More
PatSnap group products

Browse by: Latest US Patents, China's latest patents, Technical Efficacy Thesaurus, Application Domain, Technology Topic, Popular Technical Reports.

© 2024 PatSnap. All rights reserved.Legal|Privacy policy|Modern Slavery Act Transparency Statement|Sitemap|About US| Contact US: help@patsnap.com