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Its use of human and obesity susceptibility gene encoding a member of the New lexical down family

机译:它对人类和肥胖易感性基因编码新词汇下家族成员的使用

摘要

Discloses the identification of a human obesity susceptibility gene In particular, the present invention, it may, for the treatment diagnosis of related disorders and obesity, and prevention, and used for drug screening as well as therapeutically effective . More specifically, it is related to susceptibility to obesity, the present invention discloses certain alleles of the contactin associated protein-like 2 (CNTNAP2) gene is a novel target for therapeutic intervention. Specific mutations of the expression product and in CNTNAP2 gene, and the present invention relates to a kit and diagnostic tools based on these mutations. Including, but not limited to, dyslipidemia low α hyperlipoproteinemia, familial combined hyperlipidemia, multiple metabolic abnormalities or insulin resistance syndrome X, coronary disease, diabetes and related complications, as well as, the present invention , it is possible to metabolic disorders and coronary heart disease, the diagnosis of predisposition, detection, prevention, and used in the treatment or /.
机译:公开了人类肥胖易感性基因的鉴定。特别地,本发明可以用于相关病症和肥胖的治疗诊断,预防,以及用于药物筛选以及治疗有效。更具体地说,它与肥胖的易感性有关,本发明公开了接触素相关蛋白样2(CNTNAP2)基因的某些等位基因是治疗干预的新靶标。表达产物和CNTNAP2基因中的特定突变,并且本发明涉及基于这些突变的试剂盒和诊断工具。包括但不限于血脂异常低α高脂蛋白血症,家族性合并高脂血症,多种代谢异常或胰岛素抵抗综合症X,冠心病,糖尿病和相关并发症,以及本发明,可能发生代谢异常和冠心病疾病,易患病的诊断,发现,预防,以及用于治疗或/。

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