Invention Grant
- Patent Title: Method of detecting genetic polymorphism
- Patent Title (中): 检测遗传多态性的方法
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Application No.: US12058318Application Date: 2008-03-28
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Publication No.: US07888024B2Publication Date: 2011-02-15
- Inventor: Naoya Hosono , Mitsuaki Kubo , Yusuke Nakamura
- Applicant: Naoya Hosono , Mitsuaki Kubo , Yusuke Nakamura
- Applicant Address: JP Wako-shi
- Assignee: Riken
- Current Assignee: Riken
- Current Assignee Address: JP Wako-shi
- Agency: Leydig, Voit & Mayer, Ltd.
- Priority: JP2007-086067 20070328
- Main IPC: C12Q1/68
- IPC: C12Q1/68 ; C12P19/34 ; C07H21/02

Abstract:
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.
Public/Granted literature
- US20080286783A1 NOVEL METHOD OF DETECTING GENETIC POLYMORPHISM Public/Granted day:2008-11-20
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