Title:
【発明の名称】血管拡張性運動失調症遺伝子及びそのゲノム構成
Document Type and Number:
Japanese Patent JPH11505125
Kind Code:
A
Abstract:
A purified and isolated gene, designated ATM, mutations of which cause ataxia-telangiectasia and its genomic organization is disclosed. Methods and a kit for the detection of carriers of mutations of the ATM gene are provided by analysis of nucleic acids isolated from patients including in situ hybridization, Northern blotting and reverse transcriptase-polymerase chain reaction, Southern blotting, single strand conformational polymorphism, restriction endonuclease fingerprinting (REF), PCR amplification and DNA-chip analysis.
Inventors:
Shiro Joseph
Application Number:
JP53504896A
Publication Date:
May 18, 1999
Filing Date:
May 16, 1996
Export Citation:
Assignee:
Ramot University Authority Fore Upride Research and Industrial Development Limited
International Classes:
C12N15/09; C07K14/47; C07K16/18; C12N1/19; C12Q1/68; G01N33/53; G01N37/00; A61K38/00; (IPC1-7): C12N15/09; C07K14/47; C07K16/18; C12Q1/68
Attorney, Agent or Firm:
Minoru Nakamura (7 outside)