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    • 2. 发明申请
    • Novel genes and markers in essential arterial hypertension
    • 基本动脉高血压中的新基因和标志物
    • US20090155230A1
    • 2009-06-18
    • US11822412
    • 2007-07-05
    • Jukka T. SalonenJuha-Matti AaltoPekka UimariMia Pirskanen
    • Jukka T. SalonenJuha-Matti AaltoPekka UimariMia Pirskanen
    • A61K48/00G01N33/68C12Q1/68C12Q1/52G01N33/53A61K38/02A61K31/7088A61K39/395
    • C12Q1/6883C12Q2600/156C12Q2600/158C12Q2600/172
    • The present invention relates to previously unknown disease associations between various genes, loci and biomarkers and essential hypertension. The detection of these biomarkers provides novel in vitro methods and test kits which can be used as an aid when making risk assessment, molecular diagnosis or prognosis of HT or a HT related condition. The disclosed methods and test kits do not require interaction with the body of a subject during the biomarker detection. Instead the methods and test kits are for in vitro use (e.g. in a clinical laboratory) and typically biological samples for the biomarker analyses using a method or a test kit of this invention have been collected earlier in a different place. In addition the biomarkers provide methods and systems for identifying novel agents for preventing, treating and/or reducing risk of HT or a HT related condition. The HT associated genes can be used to develop novel therapies for prevention and/or treatment of essential hypertension.
    • 本发明涉及各种基因,基因座和生物标志物之间以前未知的疾病关联和原发性高血压。 这些生物标志物的检测提供了新的体外方法和测试试剂盒,可用于在进行HT或HT相关病症的风险评估,分子诊断或预后时作为辅助。 所公开的方法和测试试剂盒在生物标志物检测期间不需要与受试者的身体相互作用。 相反,方法和测试试剂盒用于体外使用(例如在临床实验室中),并且通常使用本发明的方法或测试试剂盒的生物标志物分析的生物样品通常在不同的位置被收集。 此外,生物标志物提供用于鉴定用于预防,治疗和/或降低HT或HT相关病症风险的新药的方法和系统。 HT相关基因可用于开发用于预防和/或治疗原发性高血压的新疗法。
    • 5. 发明授权
    • DNA molecule encoding a variant paraoxonase and uses thereof
    • 编码变体对氧磷酶的DNA分子及其用途
    • US06740746B2
    • 2004-05-25
    • US09811673
    • 2001-03-20
    • Jukka T. SalonenMarja MarchesaniTomi-Pekka TuomainenJari Kaikkonen
    • Jukka T. SalonenMarja MarchesaniTomi-Pekka TuomainenJari Kaikkonen
    • C07H2104
    • C12N9/18A01K2217/05C12Q1/6886C12Q2600/156C12Y301/01002
    • This invention is directed to a DNA sequence comprising a nucleotide sequence encoding a variant paraoxonase protein and to said variant paraoxonase protein as well as a method and a kit for detecting a risk of cancer, coronary or cerebrovascular disease, hypertension, type 2 diabetes, dementia, joint arthrosis, cataract, or sensitivity to organophosphorus compounds in a subject, the method comprising isolating genomic DNA from said subject, determining the allelic pattern for the codon 102 of the paraoxonase encoding PON1 gene in the genomic DNA, identification of Ile101Val mutation indicating said risk being increased and for targeting paraoxonase activity modulating therapies. Further this invention relates to transgenic animals comprising a human DNA molecule encoding said variant paraoxonase and to a method of phenotype-targeted gene sequencing.
    • 本发明涉及包含编码变体对氧磷酶蛋白质核苷酸序列和所述变体对氧磷酶蛋白质的DNA序列,以及用于检测癌症,冠状动脉或脑血管疾病,高血压,2型糖尿病,痴呆风险的方法和试剂盒 ,联合关节病,白内障或对受试者中有机磷化合物的敏感性,所述方法包括从所述受试者中分离基因组DNA,确定编码基因组DNA中的PON1基因的对氧磷酶的密码子102的等位基因图谱,鉴定表示所述受体的Ile101Val突变 风险增加,靶向对氧磷酶活性调节疗法。 此外,本发明涉及包含编码所述变体对氧磷酶的人DNA分子和表型靶向基因测序方法的转基因动物。