Title:
ALANINE: GLYOXYLIC ACID AMINOTRANSFERASE GENE AND METHOD FOR DIAGNOSIS OF TYPE I PRIMARY HYPEROXALURIA USING THE GENE
Document Type and Number:
Japanese Patent JP2003070485
Kind Code:
A
Abstract:
To clarify the mutation of alanine: glyoxylic acid aminotransferase (AGT) gene causing type I primary hyperoxaluria (PH1) and provide a method for the diagnosis of PH1 using the gene.
PH1 is diagnosed by using a polynucleotide having a structure of cDNA of AGT gene provided that the 751st thymine is changed to adenine and the 752nd guanine to adenine by missense mutation, a part of the polynucleotide, a polypeptide coded by the polynucleotide or a part of the polypeptide.
Inventors:
HIROSE SHINICHI
Application Number:
JP2001271224A
Publication Date:
March 11, 2003
Filing Date:
September 07, 2001
Export Citation:
Assignee:
JAPAN SCIENCE & TECH CORP
International Classes:
G01N33/53; C07K16/40; C12M1/00; C12N9/10; C12N15/09; C12Q1/68; G01N33/532; G01N33/566; (IPC1-7): C12N15/09; C07K16/40; C12M1/00; C12N9/10; C12Q1/68; G01N33/53; G01N33/532; G01N33/566
Attorney, Agent or Firm:
Toshi Tsutsui
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