发明名称 |
GAUCHER'S DISEASE DETECTION OF A NEW MUTATION IN INTRON 2 OF THE GLUCOCEREBROSIDASE GENE |
摘要 |
A method for detecting a new Gaucher disease mutation in an allele in a human having a point mutation of an adenine nucleotide substituted for a guanine nucleotide at nucleotide position 1 in the normal glucocerebrosidase gene intron 2 is provided. Identification of the mutation is accomplished by first amplifying, with a polymerase chain reaction (PCR) primer, a region of human genomic DNA containing nucleotide position 1 of glucocerebrosidase gene intron 2 followed by detection of the mutation. |
申请公布号 |
KR950010188(B1) |
申请公布日期 |
1995.09.11 |
申请号 |
KR19930002489 |
申请日期 |
1993.02.24 |
申请人 |
THE SCRIPPS RESEARCH INSTITUTE |
发明人 |
ERNEST BEUTLER |
分类号 |
C12N15/09;C12Q1/68;(IPC1-7):C12Q1/68 |
主分类号 |
C12N15/09 |
代理机构 |
|
代理人 |
|
主权项 |
|
地址 |
|