Title:
【発明の名称】遺伝子診断を目的とした二倍性から一倍性への変換
Document Type and Number:
Japanese Patent JP2003511058
Kind Code:
A
Abstract:
Detection of mutations associated with hereditary diseases is complicated by the diploid nature of mammalian cells. Mutations present in one allele are often masked by the wild-type sequence of the other allele. Individual alleles can be isolated from every chromosome within somatic cell hybrids generated from a single fusion. Nucleic acids from the hybrids can be analyzed for mutations in an unambiguous manner. This approach was used to detect two cancer-causing mutations that had previously defied genetic diagnosis. One of the families studied, Warthin Family G, was the first kindred with a hereditary colon cancer syndrome described in the biomedical literature.
Inventors:
Bogerstein Bart
Kinsler Kenneth W.
Yang Hai
Papadopoulos Nicholas
Kinsler Kenneth W.
Yang Hai
Papadopoulos Nicholas
Application Number:
JP2001529454A
Publication Date:
March 25, 2003
Filing Date:
October 06, 2000
Export Citation:
Assignee:
THE JOHNS HOPKINS UNIVERSITY
International Classes:
G01N33/483; C12N5/10; C12N5/16; C12N5/26; C12N15/06; C12N15/09; C12Q1/02; C12Q1/68; G01N27/447; G01N33/53; G01N33/566; G01N37/00; C12R1/91; (IPC1-7): C12N15/09; C12N5/10; C12Q1/02; C12Q1/68; G01N27/447; G01N33/483; G01N33/53; G01N33/566; G01N37/00
Domestic Patent References:
| JPH09509832A | 1997-10-07 |
Attorney, Agent or Firm:
Shimizu Hatsushi (1 person outside)