基本信息:
- 专利标题： COMBINED CGH & ALLELE-SPECIFIC HYBRIDISATION METHOD
- 专利标题（中）：组合CGH和ALLELE特异性混合方法
- 申请号：PCT/GB2011/000012 申请日：2011-01-07
- 公开(公告)号：WO2011083312A1 公开(公告)日：2011-07-14
- 发明人： HURD, Douglas , SOUTHERN, Edwin , STARK, Richard
- 申请人： OXFORD GENE TECHNOLOGY (OPERATIONS) LTD , HURD, Douglas , SOUTHERN, Edwin , STARK, Richard
- 申请人地址： Begbroke Science Park Bandy Lane Oxon OX5 1PF GB
- 专利权人： OXFORD GENE TECHNOLOGY (OPERATIONS) LTD,HURD, Douglas,SOUTHERN, Edwin,STARK, Richard
- 当前专利权人： OXFORD GENE TECHNOLOGY (OPERATIONS) LTD,HURD, Douglas,SOUTHERN, Edwin,STARK, Richard
- 当前专利权人地址： Begbroke Science Park Bandy Lane Oxon OX5 1PF GB
- 代理机构： MARSHALL, Cameron, John
- 优先权： GB1014226.3 20100825; GB1006438.4 20100416; GB1000315.0 20100108
- 主分类号： C12Q1/68
- IPC分类号： C12Q1/68
摘要：
The invention combines the fields of comparative genomic hybridisation (CGH) analysis and SNP array analysis. It relates to methods for detecting and mapping genetic abnormalities associated with various diseases. In particular the invention provides a method for simultaneously performing array CGH and SNP array analysis on a genomic DNA sample comprising contacting a nucleic acid array which comprises a first probe set and a second probe set with a genomic DNA sample, comprising a test and reference sample, under hybridisation conditions, comparing the amount of test sample and reference sample hybridised to the hybridisation probes of the first probe set, comparing the amount of test sample and reference sample hybridised to the hybridisation probes of the second probe set; and using the data obtained to determine the copy number of at least one locus; and at least one SNP in the genomic DNA sample.
摘要（中）：
本发明结合了比较基因组杂交（CGH）分析和SNP阵列分析的领域。 它涉及检测和绘制与各种疾病相关的遗传异常的方法。 特别地，本发明提供了一种用于在基因组DNA样品上同时进行阵列CGH和SNP阵列分析的方法，包括使包含第一探针组和第二探针组的核酸阵列与基因组DNA样品接触，所述核酸阵列包含测试和参考样品 在杂交条件下，比较与第一探针组的杂交探针杂交的测试样品和参考样品的量，比较与第二探针组的杂交探针杂交的测试样品和参考样品的量; 并使用获得的数据来确定至少一个轨迹的拷贝数; 和基因组DNA样品中的至少一个SNP。