Abstract: The invention provides methods of analyzing a nucleic acid in a target sample for variant alleles. In such methods, a first-labelled control sample and a second-labelled target sample are hybridized to at least one set of probes. The control sample comprises a homozygous reference allele. The target sample comprises the homozygous reference allele, or variant alleles differing from the reference allele at a locus, or one variant allele differing from the reference allele at the locus and one reference allele. The probes in the probe set span the locus and are complementary to the reference allele. After hybridization the intensity of first and second label bound to each probe in the set is measured. This information is then used to indicate the presence of one variant allele and one reference allele, or the presence of two variant alleles in the target sample.
Type:
Grant
Filed:
January 5, 2000
Date of Patent:
January 29, 2002
Assignees:
The United States of America as represented by the Department
of Health & Human Services, Affymetrix, Inc.
Inventors:
Joseph G. Hacia, Mark S. Chee, Francis S. Collins
Abstract: The invention relates to the gene involved in the von Recklinghausen neurofibromatosis (NF1) disease process and to the identification, isolation and cloning of a nucleic acid sequence corresponding to the gene. The invention further relates to the NF1 gene product and sequence and antibodies raised thereto. The invention also relates to methods of screening for NF1 and NF1 diagnosis, as well as conventional treatment and gene therapy utilizing recombinant technologies.
Type:
Grant
Filed:
August 2, 1993
Date of Patent:
May 29, 2001
Assignee:
The Regents of the University of Michigan
Inventors:
Francis S. Collins, Margaret R. Wallace, Douglas A. Marchuk, Lone B. Andersen, David H. Gutmann
Abstract: The invention relates to the discovery of a novel tumor suppressor gene which is associated with multiple endocrine neoplasia type 1. The gene has been designated MEN1 and the gene product is menin. The absence of this protein and associated mutations in the corresponding gene have been identified in individuals suffering from multiple endocrine neoplasia type 1. The identification of this marker for multiple endocrine neoplasia type 1 has diagnostic uses as well as for gene therapy.
Type:
Grant
Filed:
March 4, 1998
Date of Patent:
April 15, 2008
Assignee:
The United States of America as represented by the Department of Health and Human Services
Inventors:
Settara Chandrasekharappa, Siradanahalli Guru, Pachiappan Manickam, Francis S. Collins, Michael R. Emmert-Buck, Larisa V. Debelenko, Irina A. Lubensky, Lance A. Liotta, Sunita K. Agarwal, Allen M. Spiegel, A. Lee Burns, Stephen J. Marx, Zhengping Zhuang
Abstract: Disclosed herein are point mutations in the LMNA gene that cause HGPS. These mutations activate a cryptic splice site within the LMNA gene, which leads to deletion of part of exon 11 and generation of a mutant Lamin A protein product that is 50 amino acids shorter than the normal protein. In addition to the novel Lamin A variant protein and nucleic acids encoding this variant, methods of using these molecules in detecting biological conditions associated with a LMNA mutation in a subject (e.g., HGPS, arteriosclerosis, and other age-related diseases), methods of treating such conditions, methods of selecting treatments, methods of screening for compounds that influence Lamin A activity, and methods of influencing the expression of LMNA or LMNA variants are also described.
Type:
Application
Filed:
September 12, 2013
Publication date:
March 13, 2014
Inventors:
B. Maria H. Eriksson, Francis S. Collins, Leslie B. Gordon, William Ted Brown
Abstract: Disclosed herein are point mutations in the LMNA gene that cause HGPS. These mutations activate a cryptic splice site within the LMNA gene, which leads to deletion of part of exon 11 and generation of a mutant Lamin A protein product that is 50 amino acids shorter than the normal protein. In addition to the novel Lamin A variant protein and nucleic acids encoding this variant, methods of using these molecules in detecting biological conditions associated with a LMNA mutation in a subject (e.g., HGPS, arteriosclerosis, and other age-related diseases), methods of treating such conditions, methods of selecting treatments, methods of screening for compounds that influence Lamin A activity, and methods of influencing the expression of LMNA or LMNA variants are also described.
Type:
Grant
Filed:
September 17, 2004
Date of Patent:
November 20, 2007
Assignees:
The United States of America as represented by the Secretary of the Department of Health and Human Services, The Progeria Research Foundation, Inc., Research Foundation for Mental Hygiene, Inc.
Inventors:
B. Maria H. Eriksson, Francis S. Collins, Leslie B. Gordon, W. Ted Brown