DNA 복제수 변이를 이용한 강직성 척추염 발병 위험도 예측용 조성물 및 이를 이용한 예측 방법
    13.
    发明公开
    DNA 복제수 변이를 이용한 강직성 척추염 발병 위험도 예측용 조성물 및 이를 이용한 예측 방법 有权
    使用DNA复制数字变量进行神经元凋亡风险预测的组合物及其用途

    公开(公告)号:KR1020160014083A

    公开(公告)日:2016-02-05

    申请号:KR1020160006107

    申请日:2016-01-18

    CPC classification number: C12Q1/6883 C12Q2600/118 C12Q2600/156 C12Q2600/158

    Abstract: 본발명은 DNA 복제수변이(DNA copy number variants)를이용하는강직성척추염발병위험도예측방법에관한것이다. 본발명의 DNA 복제수변이검출용프라이머를이용하여, 강직성척추염발병위험도를효과적으로예측할수 있으며, 단일염기다형성(SNP) 측정결과를접목시킴으로써상기예측의민감도와특이도를증진시킬수 있음을확인하였는바, 강직성척추염의예방및 치료에있어서보다근본적으로접근할수 있을것으로기대된다.

    Abstract translation: 本发明涉及通过使用DNA拷贝数变体来预测强直性脊柱炎的发病风险的方法。 通过使用用于检测本发明的DNA拷贝数变体的引物可以有效地预测强直性脊柱炎的发病风险。 通过嫁接单核苷酸多态性(SNP)的测量结果可以提高对预测的敏感性和特异性。 因此,预防和治疗强直性脊柱炎的基本方法是预期的。 该组合物包含在1q32.2位,2q31.2位,6p21.32位,13q13.1位和16p13.3位的染色体上的遗传标记的组合。 该方法包括以下步骤:(a)进行PCR; (b)对PCR产物进行测序; 和(c)确定样品是否具有来自测序结果的DNA拷贝数变体。

    변형 MLPA 를 이용한 카피 수 다형성의 다중 분석 방법
    14.
    发明公开
    변형 MLPA 를 이용한 카피 수 다형성의 다중 분석 방법 有权
    使用修改的MLPA多重确定复制数变化的方法

    公开(公告)号:KR1020130135414A

    公开(公告)日:2013-12-11

    申请号:KR1020120058639

    申请日:2012-05-31

    CPC classification number: C12Q1/6883 C12Q1/6811 C12Q1/6862

    Abstract: The present invention relates to a multiple detection method of a copy number variation using the mobile phase difference by a cubical structure of a probe regardless of the length difference of the probe, and a kit for embodying the method. The multiple detection method of a copy number variation is obtained by changing conventional MLPA (multiplex ligation-dependent probe amplification) technology for analyzing the copy number based on the length difference of the probe.

    Abstract translation: 本发明涉及使用探针的立方体结构的移动相位差的多重检测方法,而不管探针的长度差如何,以及用于体现该方法的试剂盒。 通过改变用于基于探针的长度差分析拷贝数的常规MLPA(多重连接依赖性探针扩增)技术来获得拷贝数变异的多重检测方法。

    1q25.1(RABGAP1L) 위치, 6p21.32 (C4) 위치 및 10q21.3위치의 DNA 복제 수 변이 검출용 프라이머를 포함하는 전신성 홍반성 루푸스 발병 위험도 예측용 조성물

    公开(公告)号:KR1020140046362A

    公开(公告)日:2014-04-18

    申请号:KR1020120144720

    申请日:2012-12-12

    Inventor: 정연준 정승현

    CPC classification number: C12Q1/6851 A61K48/00 C12Q1/6827

    Abstract: The present invention relates to a composition for a systemic lupus erythematosus risk prediction. In detail, in case where copy number variants of 1q25.1, C4 and 10q21.3 loci occur, the variants are regarded as high-risk groups for a systemic lupus erythematosus through the composition. The composition of the present invention enables prediction for the risk of systemic lupus erythematosus as the copy number variants of the three loci have a synergy effect for a development of systemic lupus erythematosus. Furthermore, the present invention is a test-friendly method which reduces analytical errors which may be created due to a new equipment purchased or technological limitations as a PCR generally implemented in a inspection room of majority of hospitals is used. In addition, the present invention is able to apply a non-invasive method to a person to be tested. Ultimately, the present invention predicts the risk of systemic lupus erythematosus which will essentially contribute to delaying development of the disease or to preventing an aggravation of state.

    Abstract translation: 本发明涉及一种用于系统性红斑狼疮风险预测的组合物。 详细地,如果发生1q25.1,C4和10q21.3位点的拷贝数变体,则该变体被认为是通过该组合物的系统性红斑狼疮的高风险组。 本发明的组合物能够预测系统性红斑狼疮的风险,因为三个位点的拷贝数变体对系统性红斑狼疮的发展具有协同作用。 此外,本发明是一种测试友好的方法,其减少了由于购买的新设备而产生的分析错误或技术限制,因为通常在多数医院的检查室中实施PCR。 此外,本发明能够将非侵入性方法应用于被测试者。 最终,本发明预测系统性红斑狼疮的风险,其将基本上有助于延缓疾病的发展或防止状态恶化。

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