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1. 发明授权

US07888024B2 Method of detecting genetic polymorphism 有权
标题翻译：检测遗传多态性的方法
公开(公告)号：US07888024B2
公开(公告)日：2011-02-15
申请号：US12058318
申请日：2008-03-28
申请人： Naoya Hosono , Mitsuaki Kubo , Yusuke Nakamura
发明人： Naoya Hosono , Mitsuaki Kubo , Yusuke Nakamura
IPC分类号： C12Q1/68 , C12P19/34 , C07H21/02
CPC分类号： C12Q1/6827 , C12Q2561/109 , C12Q2537/157
摘要： The present invention provides a novel polymorphism detecting method suitable for the detection and identification of copy number variation.Provided is a method of determining the genotype of a subject in a genomic region comprising an SNP site, comprising a step for performing typing of the SNP site by the invader assay with a DNA-containing sample comprising the genomic region from the subject as the template, wherein fluorescence is measured on a real time basis. The copy number ratio of both alleles is determined using the fluorescence intensity ratio of each allele at a time before saturation of fluorescence intensity. Preferably, the present method further comprises a step for amplifying the genomic region comprising an SNP site prior to the invader step. In this step of amplification, a plurality of regions comprising a plurality of SNP sites can be simultaneously amplified. Furthermore, the present method enables the determination of the copy number of each allele when combined with quantitative PCR.
摘要翻译：本发明提供了一种适用于检测和鉴定拷贝数变异的新型多态性检测方法。提供了确定包含SNP位点的基因组区域中受试者的基因型的方法，其包括通过使用含有来自受试者的基因组区域作为模板的含有DNA的样品通过侵入测定进行SNP位点的分型的步骤其中荧光是实时测量的。使用荧光强度饱和之前的每个等位基因的荧光强度比来确定两个等位基因的拷贝数比。优选地，本方法还包括在入侵者步骤之前扩增包含SNP位点的基因组区域的步骤。在该扩增步骤中，可以同时扩增包含多个SNP位点的多个区域。此外，当与定量PCR组合时，本方法能够确定每个等位基因的拷贝数。

2. 发明申请

US20080286783A1 NOVEL METHOD OF DETECTING GENETIC POLYMORPHISM 有权
标题翻译：检测遗传多态性的新方法
公开(公告)号：US20080286783A1
公开(公告)日：2008-11-20
申请号：US12058318
申请日：2008-03-28
申请人： Naoya HOSONO , Mitsuaki KUBO , Yusuke NAKAMURA
发明人： Naoya HOSONO , Mitsuaki KUBO , Yusuke NAKAMURA
IPC分类号： C12Q1/68
CPC分类号： C12Q1/6827 , C12Q2561/109 , C12Q2537/157
摘要： The present invention provides a novel polymorphism detecting method suitable for the detection and identification of copy number variation.Provided is a method of determining the genotype of a subject in a genomic region comprising an SNP site, comprising a step for performing typing of the SNP site by the invader assay with a DNA-containing sample comprising the genomic region from the subject as the template, wherein fluorescence is measured on a real time basis. The copy number ratio of both alleles is determined using the fluorescence intensity ratio of each allele at a time before saturation of fluorescence intensity. Preferably, the present method further comprises a step for amplifying the genomic region comprising an SNP site prior to the invader step. In this step of amplification, a plurality of regions comprising a plurality of SNP sites can be simultaneously amplified. Furthermore, the present method enables the determination of the copy number of each allele when combined with quantitative PCR.
摘要翻译：本发明提供了一种适用于检测和鉴定拷贝数变异的新型多态性检测方法。提供了确定包含SNP位点的基因组区域中受试者的基因型的方法，其包括通过使用含有来自受试者的基因组区域作为模板的含有DNA的样品通过侵入测定进行SNP位点的分型的步骤其中荧光是实时测量的。使用荧光强度饱和之前的每个等位基因的荧光强度比来确定两个等位基因的拷贝数比。优选地，本方法还包括在入侵者步骤之前扩增包含SNP位点的基因组区域的步骤。在该扩增步骤中，可以同时扩增包含多个SNP位点的多个区域。此外，当与定量PCR组合时，本方法能够确定每个等位基因的拷贝数。

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