首页> 外国专利> THE USE OF CARNOSINE METABOLISM-ASSOCIATED GENES TO DETERMINE GENETIC PREDISPOSITION/SUSCEPTIBILITY TO DIABETIC NEPHROPATHY

THE USE OF CARNOSINE METABOLISM-ASSOCIATED GENES TO DETERMINE GENETIC PREDISPOSITION/SUSCEPTIBILITY TO DIABETIC NEPHROPATHY

机译:使用肌肽代谢相关基因来确定遗传易感性/糖尿病性肾病的易感性

摘要

The present invention discloses a novel system, kit and a method for determining diabetic nephropathy (DN), early stages of DN, or a genetic predisposition for DN in a patient using genes associated with carnosine metabolism or sequence variants of such genes. Moreover, the present invention also relates a method of identifying suitable compounds for the treatment and/or prevention of DN. In one aspect the method comprises comparing the activity and/or expression level of normal carnosinase-1 and/or carnosinase-2, respectively, with that found in an individual to be tested. In other embodiments, the method comprises the comparison of nucleic acid sequences within a span of about 100 kb around the human CN1 and CN2 locus, a region including the LOC 125704 gene or parts of said gene.
机译:本发明公开了一种新颖的系统,试剂盒和方法,其使用与肌肽代谢相关的基因或此类基因的序列变体来确定患者中的糖尿病性肾病(DN),DN的早期阶段或DN的遗传易感性。此外,本发明还涉及鉴定用于治疗和/或预防DN的合适化合物的方法。在一方面,该方法包括分别将正常肌肽酶-1和/或肌肽酶-2的活性和/或表达水平与待测个体中发现的活性和/或表达水平进行比较。在其他实施方案中,该方法包括在人CN1和CN2基因座,包括LOC 125704基因或所述基因的部分的区域周围约100kb的范围内比较核酸序列。

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