CONVERTING DIPLOIDY TO HAPLOIDY FOR GENETIC DIAGNOSIS
    15.
    发明授权
    CONVERTING DIPLOIDY TO HAPLOIDY FOR GENETIC DIAGNOSIS 有权
    Diploidie的折算HAPLODIE的遗传诊断

    公开(公告)号:EP1220952B1

    公开(公告)日:2008-12-31

    申请号:EP00968746.8

    申请日:2000-10-06

    IPC分类号: C12Q1/68 C12N15/06 C12N5/26

    摘要: 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.