发明名称 |
KONVERSION VON DIPLOIDIE IN HAPLODIE ZUR GENETISCHEN DIAGNOSTIK |
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 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.</p> |
申请公布号 |
AT419385(T) |
申请公布日期 |
2009.01.15 |
申请号 |
AT20000968746T |
申请日期 |
2000.10.06 |
申请人 |
THE JOHNS HOPKINS UNIVERSITY |
发明人 |
VOGELSTEIN, BERT;KINZLER, KENNETH;YAN, HAI;PAPADOPOULOS, NICHOLAS |
分类号 |
C12Q1/68;G01N33/483;C12N5/10;C12N5/16;C12N5/26;C12N15/06;C12N15/09;C12Q1/02;C12R1/91;G01N27/447;G01N33/53;G01N33/566;G01N37/00 |
主分类号 |
C12Q1/68 |
代理机构 |
|
代理人 |
|
主权项 |
|
地址 |
|