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SNP Korea biobank array and method of discovering SNP for diagnosis or prediction of liver disease using thereof

机译:SNP Korea生物库阵列和使用其发现用于诊断或预测肝病的SNP的方法

摘要

The present invention relates to a Korean specific phenotype related biomarker detection microarray chip, in which a tagging variant and a functional variant for representing a Korean genome are integrated, and a use thereof. The Korean customized genomic chip (Korean chip) of the present invention represents representability for the Korean genome, exhibits excellent reproducibility and accuracy, and is useful for detecting a Korean specific phenotype or a disease related biomarker. The present invention newly excavates, from the Korean genome, variants of rs200088103 and rs748547625 positioned in a locus of a GPT gene related to an alanine aminotransferase (ALT) numerical value such that each SNP of the variants is amplified or detected to be used for predicting the ALT numerical value.
机译:本发明涉及整合了代表韩国基因组的标签变体和功能变体的韩国特异性表型相关生物标志物检测微阵列芯片及其用途。本发明的韩国定制的基因组芯片(韩国芯片)代表了韩国基因组的代表性,显示出优异的可重复性和准确性,并且可用于检测韩国特异性表型或疾病相关的生物标记。本发明从韩国基因组中新挖掘了位于与丙氨酸氨基转移酶(ALT)数值有关的GPT基因的基因座中的rs200088103和rs748547625的变体,从而扩增或检测到该变体的每个SNP以用于预测。 ALT数值。

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