Single nucleotide polymorphisms predicting cardiovascular disease
    11.
    发明申请
    Single nucleotide polymorphisms predicting cardiovascular disease 审中-公开
    单核苷酸多态性预测心血管疾病

    公开(公告)号:US20070202506A1

    公开(公告)日:2007-08-30

    申请号:US10819557

    申请日:2004-04-01

    摘要: The present invention relates to an isolated polynucleotide encoding a Na+/K+ ATPase polypeptide useful in methods to identify therapeutic agents useful for treating cardiovascular diseases, the polynucleotide is selected from the group consisting of: SEQ ID 4 and SEQ ID 5 (baySNP-1765) with allelic variation G in position 240 contained in a functional surrounding like full length cDNA for Na+/K+ ATPase and with or without the Na+/K+ ATPase promotor sequence; and SEQ ID 4 and SEQ ID 5 (baySNP-1765) with allelic variation A in position 240 contained in a functional surrounding like full length cDNA for Na+/K+ ATPase and with or without the Na+/K+ ATPase promotor sequence. The invention also provides diagnostic methods and kits including antibodies determining whether a human subject is at risk for a cardiovascular disease. The invention provides further polymorphic sequences and other genes.

    摘要翻译: 本发明涉及编码用于鉴定治疗心血管疾病的治疗剂的方法中的Na + / K + ATP酶多肽的分离多核苷酸,所述多核苷酸选自:SEQ ID 4和SEQ ID 5(baySNP-1765) 位置240中的等位变异G包含在功能性周围,如Na + / K + ATP酶的全长cDNA,以及Na + / K + ATPase启动子序列中是否具有Na + / K + ATP酶启动子序列。 和SEQ ID 4和SEQ ID 5(baySNP-1765),其位置240中的等位基因变异A包含在功能性周围,如Na + / K + ATP酶的全长cDNA,以及Na + / K + ATPase启动子序列中或不含Na + / K + ATP酶启动子序列。 本发明还提供诊断方法和试剂盒,包括确定人类受试者是否处于心血管疾病风险的抗体。 本发明提供了更多的多态序列和其他基因。

    ALGORITHMS FOR OUTCOME PREDICTION IN PATIENTS WITH NODE-POSITIVE CHEMOTHERAPY-TREATED BREAST CANCER
    12.
    发明申请
    ALGORITHMS FOR OUTCOME PREDICTION IN PATIENTS WITH NODE-POSITIVE CHEMOTHERAPY-TREATED BREAST CANCER 审中-公开
    患有结直肠癌治疗乳腺癌的患者的预后预测方法

    公开(公告)号:US20110166838A1

    公开(公告)日:2011-07-07

    申请号:US12999522

    申请日:2009-06-16

    IPC分类号: G06F7/60

    摘要: The invention relates to methods for predicting an outcome of cancer in a patient suffering from cancer, said patient having been previously diagnosed as node positive and treated with cytotoxic chemotherapy, said method comprising determining in a biological sample from said patient an expression level of a plurality of genes selected from the group consisting of ACTG1, CAl2, CALM2, CCND1, CHPT1, CLEC2B, CTSB, CXCL13, DCN, DHRS2, EIF4B, ERBB2, ESR1, FBXO28, GABRP, GAPDH, H2AFZ, IGFBP3, IGHG1, IGKC, KCTD3, KIAA0101, KRT17, MLPH, MMP1, NAT1, NEK2, NR2F2, OAZ1, PCNA, PDLIM5, PGR, PPIA, PRC1, RACGAP1, RPL37A, SOX4, TOP2A, UBE2C and VEGF; ABCB1, ABCG2, ADAM15, AKR1C1, AKR1C3, AKT1, BANF1, BCL2, BIRC5, BRMS1, CASP10, CCNE2, CENPJ, CHPT1, EGFR, CTTN, ERBB3, ERBB4, FBLN1, FIP1L1, FLT1, FLT4, FNTA, GATA3, GSTP1, Herstatin, IGF1R, IGHM, KDR, KIT, CKRT5, SLC39A6, MAPK3, MAPT, MKI67, MMP7, MTA1, FRAP1, MUC1, MYC, NCOA3, NFIB, OLFM1, TP53, PCNA, PI3K, PPERLD1, RAB31, RAD54B, RAF1, SCUBE2, STAU, TINF2, TMSL8, VGLL1, TRA@, TUBA1, TUBB, TUBB2A.

    摘要翻译: 本发明涉及用于预测患有癌症的患者的癌症结果的方法,所述患者先前被诊断为淋巴结阳性并用细胞毒性化疗治疗,所述方法包括在来自所述患者的生物样品中确定多个表达水平 选自ACTG1,CA2,CALM2,CCND1,CHPT1,CLEC2B,CTSB,CXCL13,DCN,DHRS2,EIF4B,ERBB2,ESR1,FBXO28,GABRP,GAPDH,H2AFZ,IGFBP3,IGHG1,IGKC,KCTD3, KIAA0101,KRT17,MLPH,MMP1,NAT1,NEK2,NR2F2,OAZ1,PCNA,PDLIM5,PGR,PPIA,PRC1,RACGAP1,RPL37A,SOX4,TOP2A,UBE2C和VEGF; ABCB1,ABCG2,ADAM15,AKR1C1,AKR1C3,AKT1,BANF1,BCL2,BIRC5,BRMS1,CASP10,CCNE2,CENPJ,CHPT1,EGFR,CTTN,ERBB3,ERBB4,FBLN1,FIP1L1,FLT1,FLT4,FNTA,GATA3,GSTP1, Herbatin,IGF1R,IGHM,KDR,KIT,CKRT5,SLC39A6,MAPK3,MAPT,MKI67,MMP7,MTA1,FRAP1,MUC1,MYC,NCOA3,NFIB,OLFM1,TP53,PCNA,PI3K,PPERLD1,RAB31,RAD54B,RAF1, SCUBE2,STAU,TINF2,TMSL8,VGLL1,TRA @,TUBA1,TUBB,TUBB2A。

    MOLECULAR MARKERS FOR CANCER PROGNOSIS
    13.
    发明申请
    MOLECULAR MARKERS FOR CANCER PROGNOSIS 审中-公开
    癌症预防分子标记

    公开(公告)号:US20110172928A1

    公开(公告)日:2011-07-14

    申请号:US12999406

    申请日:2009-06-16

    IPC分类号: G06F19/00

    摘要: The present invention relates to methods for prediction of an outcome of neoplastic disease or cancer. More specifically, the present invention relates to a method for the prediction of breast cancer by determining in a biological sample from said patient an expression level of a plurality of genes selected from the group consisting of ACTG1, CA12, CALM2, CCND1, CHPT1, CLEC2B, CTSB, CXCL13, DCN, DHRS2, EIF4B, ERBB2, ESR1, FBXO28, GABRP, GAPDH, H2AFZ, IGFBP3, IGHG1, IGKC, KCTD3, KIAA0101, KRT17, MLPH, MMP1, NAT1, NEK2, NR2F2, OAZ1, PCNA, PDLIM5, PGR, PPIA, PRC1, RACGAP1, RPL37A, SOX4, TOP2A, UBE2C and VEGF.

    摘要翻译: 本发明涉及用于预测肿瘤性疾病或癌症的结果的方法。 更具体地,本发明涉及通过在来自所述患者的生物样品中测定多种选自ACTG1,CA12,CALM2,CCND1,CHPT1,CLEC2B的多种基因的表达水平来预测乳腺癌的方法 ,CTSB,CXCL13,DCN,DHRS2,EIF4B,ERBB2,ESR1,FBXO28,GABRP,GAPDH,H2AFZ,IGFBP3,IGHG1,IGKC,KCTD3,KIAA0101,KRT17,MLPH,MMP1,NAT1,NEK2,NR2F2,OAZ1,PCNA,PDLIM5 ,PGR,PPIA,PRC1,RACGAP1,RPL37A,SOX4,TOP2A,UBE2C和VEGF。

    METHOD FOR THE QUALITY ASSESSMENT OF NUCLEIC ACID AMPLIFICATION REACTIONS
    14.
    发明申请
    METHOD FOR THE QUALITY ASSESSMENT OF NUCLEIC ACID AMPLIFICATION REACTIONS 审中-公开
    核酸扩增反应质量评估方法

    公开(公告)号:US20110166845A1

    公开(公告)日:2011-07-07

    申请号:US13061797

    申请日:2009-07-16

    IPC分类号: G06G7/58

    摘要: The invention relates to a method for the quality assessment of nucleic acid amplification reactions which is based on a mathematical approach for the quality assessment of complete nucleic acid amplification reactions and comprises the following steps: a) Carrying out an amplification reaction for at least one nucleic acid target molecule, b)Collecting time-related data reflecting the course of the amplification reaction, c) Fitting these time-related data with a growth model equation comprising at least one parameter, d) Obtaining, from said fitting process, at least one value for the at least one parameter.

    摘要翻译: 本发明涉及一种核酸扩增反应质量评估方法,该方法基于完整核酸扩增反应的质量评估的数学方法,包括以下步骤:a)对至少一个核酸进行扩增反应 酸性靶分子,b)收集反映扩增反应过程的时间相关数据,c)使用包含至少一个参数的生长模型方程拟合这些时间相关数据,d)从所述拟合过程获得至少一个 至少一个参数的值。

    Single Nucleotide Polymorphisms as Prognostic Tool to Diagnose Adverse Drug Reactions (Adr) and Drug Efficacy
    15.
    发明申请
    Single Nucleotide Polymorphisms as Prognostic Tool to Diagnose Adverse Drug Reactions (Adr) and Drug Efficacy 审中-公开
    单核苷酸多态性作为诊断不良药物反应(Adr)和药物功效的预后工具

    公开(公告)号:US20070265217A1

    公开(公告)日:2007-11-15

    申请号:US11572039

    申请日:2005-07-13

    摘要: The invention provides diagnostic methods and kits including oligo and/or polynucleotides or derivatives, including as well antibodies determining whether a human subject is at risk of getting adverse drug reaction after statin therapy or whether the human subject is a high or low responder or a good a or bad metabolizer of statins. The invention provides further diagnostic methods and kits including antibodies determining whether a human subject is at risk for a cardiovascular disease. Still further the invention provides polymorphic sequences and other genes. The present invention further relates to isolated polynucleotides encoding a phenotype associated (PA) gene polypeptide useful in methods to identify therapeutic agents and useful for preparation of a medicament to treat cardiovascular disease or influence drug response, the polynucleotide is selected from the group comprising: SEQ ID 1-131 with allelic variation as indicated in the sequences section contained in a functional surrounding like full length cDNA for PA gene polypeptide and with or without the PA gene promoter sequence. Sequences: The sequence section contains all phenotype associated (‘PA’) SNPs and adjacent genomic sequences. The position of the polymorphisms that were used for the association studies (‘baySNP’) is indicated. Sometimes additional variations are found in the surrounding genomic sequence, that are marked by it's respective IUPAC code. Although those surrounding SNPs were not explicitly analyzed, they likely exhibit a similar association to a phenotype as the baySNP (due to linkage disequilibrium, Reich D. E. et al. Nature 411, 199-204, 2001).

    摘要翻译: 本发明提供了包括寡核苷酸和/或多核苷酸或衍生物的诊断方法和试剂盒,包括确定人类受试者在他汀类药物治疗后是否有获得不良药物反应风险的抗体,还是人类受试者是高反应者还是低反应者 他汀类药物或代谢物。 本发明提供了进一步的诊断方法和试剂盒,包括确定人受试者是否处于心血管疾病风险的抗体。 本发明还提供了多态序列和其他基因。 本发明还涉及编码可用于鉴定治疗剂并用于制备治疗心血管疾病或影响药物应答的药物的方法中的表型相关(PA)基因多肽的分离的多核苷酸,所述多核苷酸选自SEQ ID NO: ID 1-131,其具有等位基因变异,如包含在功能性周围的序列部分中所示,如PA基因多肽的全长cDNA并具有或不具有PA基因启动子序列。 序列:序列部分包含所有表型相关('PA')SNP和相邻基因组序列。 指出用于关联研究('baySNP')的多态性的位置。 有时在周围的基因组序列中会发现额外的变化,它们由相应的IUPAC代码标记。 尽管周围的SNP没有明确分析,但它们可能与baySNP(由于连锁不平衡,Reich D.E.等人,Nature 411,199-204,2001)表现出类似的关联。

    Haplotypes and polymorphisms linked to human thiopurine s-methyltransferase deficiencies
    18.
    发明申请
    Haplotypes and polymorphisms linked to human thiopurine s-methyltransferase deficiencies 审中-公开
    单倍型和与人类硫嘌呤S-甲基转移酶缺陷相关的多态性

    公开(公告)号:US20090197246A1

    公开(公告)日:2009-08-06

    申请号:US10585474

    申请日:2005-01-07

    申请人: Udo Stropp

    发明人: Udo Stropp

    IPC分类号: C12Q1/68 C07H21/04

    摘要: Haplotypes and polymorphisms of thiopurine S-methyltransferase (TPMT) are described that are linked to TPMT deficiencies which can cause potentially fatal toxicity when patients are treated with thiopurines like mercaptopurine, azathioprine, or thioguanine. The mutant alleles as well as PCR fragments, kits and methods for assaying the TPMT genotype of individual patients are disclosed. Furthermore, algorithms are disclosed that combine the genotypes of a set of single nucleotide polymorphisms to haplotypes that give a distinct information about the TPMT phenotype.

    摘要翻译: 描述了硫代嘌呤S-甲基转移酶(TPMT)的单倍型和多态性,其与TPMT缺陷相关,当患者用硫嘌呤如巯基嘌呤,硫唑嘌呤或硫鸟嘌呤治疗时,可引起潜在的致命毒性。 公开了突变等位基因以及用于测定个体患者的TPMT基因型的PCR片段,试剂盒和方法。 此外,公开了将一组单核苷酸多态性的基因型与单倍型组合的算法,其给出了关于TPMT表型的不同信息。