首页> 外国专利> COMPOSITION FOR ANKYLOSING SPONDYLITIS RISK PREDICTION USING DNA COPY NUMBER VARIANTS AND USE THEREOF

COMPOSITION FOR ANKYLOSING SPONDYLITIS RISK PREDICTION USING DNA COPY NUMBER VARIANTS AND USE THEREOF

机译:DNA拷贝数变异体用于预测突触性脊柱炎风险的组合物及其用途

摘要

The present invention relates to a method for predicting the onset risk of ankylosing spondylitis by using DNA copy number variants. The onset risk of ankylosing spondylitis can be effectively predicted by using a primer for detecting DNA copy number variants of the present invention. The sensitivity and specificity to the prediction can be enhanced by grafting measurement results of single nucleotide polymorphism (SNP). Therefore, more fundamental approaches are expected regarding the prevention and treatment of ankylosing spondylitis. The composition comprises a combination of genetic markers on chromosomes in a 1q32.2 position, a 2q31.2 position, a 6p21.32 position, a 13q13.1 position, and a 16p13.3 position. The method comprises the following steps: (a) performing a PCR; (b) sequencing the PCR product; and (c) determining whether a sample has DNA copy number variants from the sequencing results.
机译:本发明涉及一种通过使用DNA拷贝数变异体来预测强直性脊柱炎发作风险的方法。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作风险。通过嫁接单核苷酸多态性(SNP)的测量结果,可以增强对预测的敏感性和特异性。因此,对于强直性脊柱炎的预防和治疗,人们期望有更根本的方法。该组合物包含染色体上位于1q32.2位置,2q31.2位置,6p21.32位置,13q13.1位置和16p13.3位置的遗传标记的组合。该方法包括以下步骤:(a)进行PCR; (b)对PCR产物进行测序; (c)根据测序结果确定样品是否具有DNA拷贝数变异。

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