发明名称 |
Converting diploidy to haploidy for genetic diagnosis. |
摘要 |
Detection of mutations associated with hereditary diseases is complicated by the diploid nature of human 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. |
申请公布号 |
ZA200202727(B) |
申请公布日期 |
2003.04.08 |
申请号 |
ZA20020002727 |
申请日期 |
2002.04.08 |
申请人 |
THE JOHNS HOPKINS UNIVERSITY |
发明人 |
BERT VOGELSTEIN;KENNETH W. KINZLER;HAI YAN;NICHOLAS PAPADOPOULOS |
分类号 |
C12N;C12N5/26;C12Q;C12Q1/68 |
主分类号 |
C12N |
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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