Search Patents
  • Probe-based analysis of heterozygous mutations using two-color labelling
    Patent number: 6342355
    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
  • Neurofibromatosis gene
    Patent number: 6238861
    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
  • , the gene associated with multiple endocrine neoplasia type 1, menin polypeptides and uses thereof
    Patent number: 7358347
    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
  • Pyrin gene and mutants thereof, which cause familial Mediterranean fever
    Patent number: 6627745
    Abstract: The invention provides the nucleic acid sequence encoding the protein associated with familial Mediterranean fever (FMF). The cDNA sequence is designated as MEFV. The invention is also directed towards fragments of the DNA sequence, as well as the corresponding sequence for the RNA transcript and fragments thereof. Another aspect of the invention provides the amino acid sequence for a protein (pyrin) associated with FMF. The invention is directed towards both the full length amino acid sequence, fusion proteins containing the amino acid sequence and fragments thereof. The invention is also directed towards mutants of the nucleic acid and amino acid sequences associated with FMF. In particular, the invention discloses three missense mutations, clustered in within about 40 to 50 amino acids, in the highly conserved rfp (B30.2) domain at the C-terminal of the protein. These mutants include M6801, M694V, K695R, and V726A.
    Type: Grant
    Filed: August 7, 2000
    Date of Patent: September 30, 2003
    Assignees: The United States of America as represented by the Department of Health and Human Services, Cedars-Sinai Medical Center, University of California, University of Michigan, Women's and Children's Hospital, Heller Institute for Medical Research
    Inventors: Daniel L. Kastner, Ivona Aksentijevichh, Michael Centola, Zuoming Deng, Ramen Sood, Francis S. Collins, Trevor Blake, P. Paul Liu, Nathan Fischel-Ghodsian, Deborah L. Gumucio, Robert I. Richards, Darrell O. Ricke, Norman A. Doggett, Mordechai Pras