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    Mutation detection assay
    3.
    发明授权
    Mutation detection assay 有权

    公开(公告)号：US10000817B2

    公开(公告)日：2018-06-19

    申请号：US15165853

    申请日：2016-05-26

    Applicant: Exact Sciences Development Company, LLC

    Inventor： Hongzhi Zou ,  Graham P. Lidgard ,  Michael J. Domanico ,  Hatim Allawi

    IPC: C12P19/34 ,  C12Q1/68

    CPC classification number: C12Q1/6886 ,  C12Q1/6858 ,  C12Q1/6881 ,  C12Q2600/156 ,  C12Q2600/158 ,  C12Q2525/301 ,  C12Q2561/109 ,  C12Q2565/1015

    Abstract: A method of sample analysis is provided. In certain embodiments, the method involves: a) amplifying a product from a sample that comprises both wild type copies of a genomic locus and mutant copies of the genomic locus that have a point mutation relative to said wild type copies of the genomic locus, to produce an amplified sample, where: i. the amplifying is done using a first primer and a second primer; and ii. the first primer comprises a 3′ terminal nucleotide that base pairs with the point mutation and also comprises a nucleotide sequence that is fully complementary to a sequence in the locus with the exception of a single base mismatch within 6 bases of the 3′ terminal nucleotide; and b) detecting the presence of said product in said amplified sample using a flap assay that employs an invasive oligonucleotide. A kit for performing the method is also provided.

    MUTATION DETECTION ASSAY
    5.
    发明申请
    MUTATION DETECTION ASSAY 审中-公开

    公开(公告)号：US20180346993A1

    公开(公告)日：2018-12-06

    申请号：US15987793

    申请日：2018-05-23

    Applicant: EXACT SCIENCES DEVELOPMENT COMPANY, LLC

    Inventor： Hongzhi Zou ,  Graham P. Lidgard ,  Michael J. Domanico ,  Hatim Allawi

    IPC: C12Q1/6886 ,  C12Q1/6881 ,  C12Q1/6858

    CPC classification number: C12Q1/6886 ,  C12Q1/6858 ,  C12Q1/6881 ,  C12Q2600/156 ,  C12Q2600/158 ,  C12Q2525/301 ,  C12Q2561/109 ,  C12Q2565/1015

    Abstract: A method of sample analysis is provided. In certain embodiments, the method involves: a) amplifying a product from a sample that comprises both wild type copies of a genomic locus and mutant copies of the genomic locus that have a point mutation relative to said wild type copies of the genomic locus, to produce an amplified sample, where: i. the amplifying is done using a first primer and a second primer; and ii. the first primer comprises a 3′ terminal nucleotide that base pairs with the point mutation and also comprises a nucleotide sequence that is fully complementary to a sequence in the locus with the exception of a single base mismatch within 6 bases of the 3′ terminal nucleotide; and b) detecting the presence of said product in said amplified sample using a flap assay that employs an invasive oligonucleotide. A kit for performing the method is also provided.

    METHYLATION ASSAY
    8.
    发明申请
    METHYLATION ASSAY 有权

    公开(公告)号：US20210222255A1

    公开(公告)日：2021-07-22

    申请号：US17170541

    申请日：2021-02-08

    Applicant: EXACT SCIENCES DEVELOPMENT COMPANY, LLC

    Inventor： Graham P. Lidgard ,  Michael J. Domanico ,  Hatim Allawi ,  Hongzhi Zou

    IPC: C12Q1/6886 ,  C12Q1/686 ,  C12Q1/6827

    Abstract: A method for detecting a methylated genomic locus is provided. In certain embodiments, the method comprises: a) treating a nucleic acid sample that contains both unmethylated and methylated copies of a genomic locus with an agent that modifies cytosine to uracil to produce a treated nucleic acid; b) amplifying a product from the treated nucleic acid using a first primer and a second primer, wherein the first primer hybridizes to a site in the locus that contain methylcytosines and the amplifying preferentially amplifies the methylated copies of the genomic locus, to produce an amplified sample; and c) detecting the presence of amplified methylated copies of the genomic locus in the amplified sample using a flap assay that employs an invasive oligonucleotide having a 3′ terminal G or C nucleotide that corresponds to a site of methylation in the genomic locus.

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