Abstract: The present invention relates to a method for monitoring the progression of the bisulfite-mediated conversion of DNA during DNA methylation analysis. The method is based on the reaction of the enzyme uracil-DNA-glycosylase (UNG) with at least one labeled DNA reporter molecule, the reporter molecule comprising at least one unmethylated cytosine residue in its sequence. After bisulfite-mediated conversion of unmethylated cytosine residues in uridin residues UNG removes the uracil bases from the DNA backbone, thus making it susceptible to heat-induced hydrolytic cleavage. Finally, the labels released from the DNA reporter molecule during this fragmentation process are detected.
Abstract: It is an object of the present invention to provide a method of evaluating whether or not a subject has a predisposition to obesity or an obesity-related condition or disease, a kit for conducting the method, an anti-obesity drug having an effect of preventing or treating obesity or an obesity-related condition or disease, a method of screening the anti-obesity drug, a non-human animal having a deficiency in the gene associated with obesity, and an adipose tissue or adipocyte of the animal. The method of evaluating a predisposition to obesity of the present invention is a method of evaluating whether or not a subject has a predisposition to obesity or an obesity-related condition or disease. The method includes the step of detecting a copy number variation (CNV) in intron 1 of SLC25A24 gene or a gene polymorphism having a linkage disequilibrium relationship with the CNV in a sample containing a human gene of the subject.
Abstract: The present disclosure relates to Birt-Hogg-Dubé syndrome, nucleic acids encoding the BHD gene, and methods of using the nucleic acids and proteins encoded thereby. In particular, the present disclosure relates to methods of diagnosing BHD disease and related conditions, such as spontaneous pneumothorax and kidney cancer, and methods of treating BHD skin lesions.
Type:
Grant
Filed:
July 11, 2011
Date of Patent:
October 21, 2014
Assignee:
The United States of America as represented by the Secretary of the Department of Health and Human Services
Inventors:
Laura S. Schmidt, Michelle Warren, Jorge R. Toro, Berton Zbar, Michael L. Nickerson, Marston W. Linehan, Maria L. Turner
Abstract: Methods are provided for identification of genes that are imprinted. In another embodiment methods are provided for identification and analysis of genes whose expression shows allelic imbalance. The expression products transcribed from genes that are present in the genome as two or more alleles may be distinguished by hybridization to an array designed to interrogate individual alleles. Genes whose transcription products are present in amounts that vary from expected are candidates for allelic imbalance, imprinting and imprinting errors.
Abstract: The present disclosure provides methods of identifying subjects having an increased likelihood of developing one or more adverse side effects resulting from administration of a microtubule-stabilizing agent. In particular examples, the method includes determining whether the subject has an ABCB1 predictive polymorphism for microtubule-stabilizing agent-induced toxicity, wherein the presence of such a polymorphism indicates that the subject has an increased risk of developing microtubule-stabilizing agent induced adverse effects. Examples of ABCB1 predictive polymorphisms include 2677G>T/A and 3435C>T. Also provided are methods of modifying microtubule-stabilizing agent therapy in a subject identified as having one or more ABCB1 predictive polymorphisms. Kits and isolated nucleic acid molecules that can be used in the disclosed methods are also provided.
Type:
Grant
Filed:
July 13, 2007
Date of Patent:
September 16, 2014
Assignees:
The United States of America as represented by the Secretary, Department of Health and Human Services, Universitätsklinikum Freiburg
Inventors:
William D. Figg, Klaus Mross, Dirk Behringer, Alex Sparreboom, Tristan Sissung, Stephan Mielke
Abstract: Methods of identifying polymorphisms associated with ataxia-ocular apraxia 2 (AOA2), are described. The polymorphisms associated with AOA2 include specific mutations in the senataxin (SETX) gene. Also described are methods of diagnosis of AOA2, as well as methods of assessing an individual for carrier status for AOA2.
Type:
Grant
Filed:
June 4, 2012
Date of Patent:
July 22, 2014
Assignee:
Athena Diagnostics, Inc.
Inventors:
Corey D. Braastad, Narasimhan Nagan, Jeffrey G. Jones, William K. Seltzer, Susan Allen, Sat Dev Batish, Hui Zhu
Abstract: A method and assay for predicting athletic performance potential of a subject, such as a thoroughbred race horse, comprising the steps of assaying a biological sample from a subject for the presence of a single nucleotide polymorphism in one or more genes associated with athletic performance. The athletic performance genes may be selected from one or more of MSTN, COX4I2, PDK4, CKM and COX4I1.
Type:
Grant
Filed:
September 11, 2009
Date of Patent:
July 8, 2014
Assignee:
University College Dublin—National University of Ireland, Dublin
Inventors:
Emmeline Hill, David MacHugh, Nick Orr, JingJing Gu, Lisa Katz
Abstract: A method of detecting a fungus belonging to genus Geosmithia, including identifying a fungus belonging to genus Geosmithia using a nucleic acid represented by the nucleotide sequence defined in the following (a) or (b): (a) a partial nucleotide sequence of ?-tubulin gene shown in any one of SEQ ID NOS: 1 to 3, or a complementary sequence thereof; (b) a nucleotide sequence including deletion, substitution, insertion or addition of one or several nucleotide(s) in the nucleotide sequence shown in any one of SEQ ID NOS: 1 to 3, or a complementary sequence thereof.
Abstract: The invention relates to an ex vivo method of diagnosing or predicting an hereditary spastic paraplegias (HSP), in a subject, which method comprises detecting a mutation in the KIAA1840 gene or protein (spatacsin), wherein said mutation is indicative of an hereditary spastic paraplegias (HSP).
Type:
Grant
Filed:
August 6, 2012
Date of Patent:
May 20, 2014
Assignee:
Institut National de la Sante et de la Recherche Medicale (INSERM)
Abstract: Genetic markets for identifying bovine carriers of complex vertebral malformation (CVM) disease gene are described. The genetic markers, including the microsatellite markers, BM4129, INRAA003, BMS2790, ILSTS029, INRA123, BM220, HUJ246, BMS862, BMS937, BL1048, BMS2095 and BMS1266 and the bovine SLC35A3 gene, are located on bovine chromosome BTA3. The G/T polymorphism at position 559 of the bovine SLC35A3 gene is identified as being causative and diagnostic for CVM in cattle.
Inventors:
Christian Bendixen, Søren Svendsen, Helle Jensen, Frank Panitz, Anders Aasberg, Lars-Erik Holm, Per Horn, Anette Høj, Bo Thomsen, Mette Jeppesen, Vivi Hunnicke Nielsen, Marc Jonker
Abstract: Provided are methods of diagnosing and/or determining treatment of non-urinary tract cancers by detecting biomarkers, and aberrant methylation in said biomarkers, in human urine samples.
Type:
Grant
Filed:
February 18, 2011
Date of Patent:
October 29, 2013
Assignee:
Philadelphia Health & Education Corporation
Inventors:
Ying-Hsiu Su, Benjamin Song, Janet Song, Timothy M. Block
Abstract: The present invention relates to the NIPA-1 proteins and nucleic acids encoding the NIPA-1 proteins. The present invention further provides assays for the detection of NIPA-1 polymorphisms and mutations associated with disease states, as well as methods of screening for ligands and modulators of NIPA-1 proteins.
Type:
Grant
Filed:
February 7, 2008
Date of Patent:
August 27, 2013
Assignee:
The Regents of the University of Michigan
Inventors:
John K. Fink, Shirley Rainier, Robert D. Nicholls, Jinghua Chai
Abstract: The invention disclosed herein is based on the identification of novel mutations in the JAK2 gene and JAK2 protein. The invention provides compositions and methods useful for diagnosing hematopoietic diseases including, for example, myeloproliferative diseases. The invention also provides compositions and methods useful for determining a prognosis of an individual diagnosed as having a hematopoietic disease.
Abstract: Means for determining the presence of the risk of drug-induced granulocytopenia in a human is provided. A method for assessing the risk of drug-induced granulocytopenia, including detecting a polymorphism of the human insulin receptor substrate-2 gene of a subject, and determining the presence of the risk of drug-induced granulocytopenia of the subject by use of the genetic polymorphism as an index.
Abstract: An oligonucleotide, primer or probe comprises the nucleotide sequences of any of SEQ ID NO. 5, 6, 7, 2, 3, 4, 8, 9, 11, 12, 13, 14, 15, 16, 17, 18, 19 or 25. The oligonucleotides are useful for the detection of the methylation status of a gene, in particular the MAGE-A3 gene. The oligonucleotides are useful in primer pairs, kits and methods for determining the methylation status of the MAGE-A3 gene and for diagnosing cancer, directing therapy and selecting subjects for treatment. The primer or probe can comprise a loop or hairpin structure and can be used in real-time methylation specific PCR.
Type:
Grant
Filed:
September 17, 2008
Date of Patent:
July 9, 2013
Assignees:
MDxHealth SA, GlaxoSmithKline Biologicals SA
Abstract: The present invention provides novel mutations of the CFTR gene related to cystic fibrosis or to conditions associated with cystic fibrosis. Also provided are probes for detecting the mutant sequences. Methods of identifying if an individual has a genotype containing one or more mutations in the CFTR gene are further provided.
Abstract: This invention relates to the use of the association between the 103 G>A polymorphism in the CNTF gene to determine antipsychotic treatment strategies in patients with psychotic disorders.
Abstract: The present invention relates to an in vitro method for diagnosing and/or predicting hereditary cerebellar ataxia in a dog, and/or identifying a dog which is healthy carrier of hereditary cerebellar ataxia, comprising determining the presence or absence of an homozygous or heterozygous genetic variation in the arylsulfatase G gene sequence in a biological sample from said dog, as compared with the arylsulfatase G gene sequence of a healthy non-carrier dog, wherein the presence of said homozygous genetic variation indicates that said dog is or will be affected by hereditary cerebellar ataxia, and the presence of said heterozygous genetic variation indicates that said dog is healthy carrier of hereditary cerebellar ataxia, said dog being of a breed selected in the group consisting of American Staffordshire Terrier, American Pit Bull Terrier and Pit Bull type.
Type:
Grant
Filed:
July 2, 2009
Date of Patent:
May 21, 2013
Assignees:
Institut National de la Recherche Agronomique (INRA), Ecole Nationale Veterinaire de Maisons Alfort