发明名称 Method for detecting diseases caused by chromosomal imbalances
摘要 The invention provides a universal method to detect the presence of chromosomal abnormalities by using paralogous genes as internal controls in an amplification reaction. The method is rapid, high throughput, and amenable to semi-automated or fully automated analyses. In one aspect, the method comprises providing a pair of primers which can specifically hybridize to each of a set of paralogous genes under conditions used in amplification reactions, such as PCR. Paralogous genes are preferably on different chromosomes but may also be on the same chromosome (e.g., to detect loss or gain of different chromosome arms). By comparing the amount of amplified products generated, the relative dose of each gene can be determined and correlated with the relative dose of each chromosomal region and/or each chromosome, on which the gene is located.
申请公布号 US2003054386(A1) 申请公布日期 2003.03.20
申请号 US20020177063 申请日期 2002.06.21
申请人 ANTONARAKIS STYLIANOS;DEUTSCH SAMUEL 发明人 ANTONARAKIS STYLIANOS;DEUTSCH SAMUEL
分类号 C12N15/09;C12Q1/68;(IPC1-7):C12Q1/68;C12P19/34 主分类号 C12N15/09
代理机构 代理人
主权项
地址