发明名称 |
CONVERTING DIPLOIDY TO HAPLOIDY FOR GENETIC DIAGNOSIS |
摘要 |
<p>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 allel es 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 o f the families studied, Warthin Family G, was the first kindred with a hereditary colon cancer syndrome described in the biomedical literature.</SD OAB></p> |
申请公布号 |
CA2386181(A1) |
申请公布日期 |
2001.04.19 |
申请号 |
CA20002386181 |
申请日期 |
2000.10.06 |
申请人 |
THE JOHNS HOPKINS UNIVERSITY |
发明人 |
VOGELSTEIN, BERT;KINZLER, KENNETH W.;YAN, HAI;PAPADOPOULOS, NICHOLAS |
分类号 |
G01N33/483;C12N5/10;C12N5/16;C12N5/26;C12N15/06;C12N15/09;C12Q1/02;C12Q1/68;C12R1/91;G01N27/447;G01N33/53;G01N33/566;G01N37/00;(IPC1-7):C12Q1/68 |
主分类号 |
G01N33/483 |
代理机构 |
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代理人 |
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主权项 |
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地址 |
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