Genetic test to determine non-responsiveness to statin drug treatment
    41.
    发明授权
    Genetic test to determine non-responsiveness to statin drug treatment 失效
    确定对他汀类药物治疗无反应的遗传试验

    公开(公告)号:US06297014B1

    公开(公告)日:2001-10-02

    申请号:US09347114

    申请日:1999-07-02

    IPC分类号: C12Q168

    CPC分类号: C12Q1/6883 C12Q2600/156

    摘要: In a method for detecting a genetic predisposition in a human for non-responsiveness to statin drug treatment for coronary artery disease, nucleic acids comprising nucleotide sequences of the human lipoprotein lipase (LPL) gene are amplified and analyzed. Homozygosity for a variant allele in a non-coding or untranslated region of the 3′ end of LPL, for example, LPL HindIII 2/2 or (TTTA)n 4/4 genotypes, is linked to non-responsiveness to treatment with statin drugs, including lovastatin, pravastatin, simvastatin, atorvastatin, fluvastatin, or cerivastatin. Oligonucleotide primer sequences, primer sets, and genetic testing kits allow the practitioner to practice the method and thus better individualize the treatment and improve the care of patients with coronary artery disease.

    摘要翻译: 在用于检测对于冠状动脉疾病的他汀类药物治疗的非反应性的人的遗传易感性的方法中,扩增并分析了包含人脂蛋白脂肪酶(LPL)基因的核苷酸序列的核酸。 在LPL 3'末端的非编码区或非翻译区,例如LPL HindIII 2/2或(TTTA)n 4/4基因型中的变体等位基因的纯合性与对他汀类药物治疗的无反应性有关 ,包括洛伐他汀,普伐他汀,辛伐他汀,阿托伐他汀,氟伐他汀或西立伐他汀。 寡核苷酸引物序列,引物组和遗传测试试剂盒使得从业者能够实施该方法,从而更好地个体化治疗并改善冠状动脉疾病患者的护理。

    Method of diagnosing predisposition for ulcerative colitis in Jewish
population by detection of interleukin-1 receptor antagonist
polymorphism
    42.
    发明授权
    Method of diagnosing predisposition for ulcerative colitis in Jewish population by detection of interleukin-1 receptor antagonist polymorphism 失效
    通过检测白细胞介素-1受体拮抗剂多态性来诊断犹太人溃疡性结肠炎的倾向性

    公开(公告)号:US5942390A

    公开(公告)日:1999-08-24

    申请号:US587911

    申请日:1996-01-12

    CPC分类号: C12Q1/6883 C12Q2600/156

    摘要: A novel, differential association between allele 2 of the variable number of tandem repeats polymorphism at intron 2 of the human IL-1 receptor antagonist gene and ulcerative colitis in humans of Jewish ancestry has been discovered. In accordance with the present invention, there is provided methods of screening for ulcerative colitis in human subjects of Jewish ancestry comprising detecting the presence or absence of nucleic acid of the subject encoding allele 2 of the variable number of tandem repeats polymorphism at intron 2 of the human IL-1 receptor antagonist gene, wherein the presence of nucleic acid encoding allele 2 is indicative of ulcerative colitis. Kits useful for screening for ulcerative colitis in human subjects of Jewish ancestry are also provided.

    摘要翻译: 已经发现了人类IL-1受体拮抗剂基因的内含子2中的可变数量的串联重复多态性的等位基因2与犹太人祖细胞溃疡性结肠炎之间的新颖的差异关联。 根据本发明,提供了在犹太祖先的人类受试者中筛选溃疡性结肠炎的方法,包括检测编码等位基因2的受试者的核酸的存在或不存在可变数目的串联重复多态性在内含子2的 人IL-1受体拮抗剂基因,其中编码等位基因2的核酸的存在表示溃疡性结肠炎。 还提供了可用于筛选犹太血统人类受试者溃疡性结肠炎的试剂盒。

    Genetic testing for determining the risk of pouchitis development
    44.
    发明授权
    Genetic testing for determining the risk of pouchitis development 有权
    用于确定囊泡发育风险的遗传测试

    公开(公告)号:US06348316B1

    公开(公告)日:2002-02-19

    申请号:US09556868

    申请日:2000-04-12

    IPC分类号: C12Q168

    CPC分类号: C12Q1/6883 C12Q2600/156

    摘要: The present invention provides a method of determining a risk of pouchitis development following a surgical procedure where an internal pouch is created in a patient with ulcerative colitis. The method is practiced by determining in the patient the presence or absence of a pouchitis-associated allele linked to an interferon &ggr; receptor locus, where the presence of the pouchitis-associated allele indicates an increased risk of pouchitis development. The interferon &ggr; receptor locus to which the pouchitis-associated allele is linked can be, for example, an interferon &ggr; receptor 1 gene. A pouchitis-associated allele useful in the invention can be, for example, an allele located within the sixth intron of the interferon &ggr; receptor 1 gene, such as a FA1 microsatellite 171 allele.

    摘要翻译: 本发明提供了一种确定在具有溃疡性结肠炎的患者中产生内部小袋的外科手术后的囊泡炎发展风险的方法。 该方法通过在患者中确定是否存在与干扰素γ受体基因座连接的绒球菌相关等位基因来实现,其中与肠道炎相关等位基因的存在表明增加的囊肿发展的风险。 与脑膜炎相关的等位基因连接的干扰素γ受体位点可以是例如干扰素γ受体1基因。 可用于本发明的囊泡炎相关等位基因可以是例如位于干扰素γ受体1基因第六内含子内的等位基因,例如FA1微卫星171等位基因。

    DIAGNOSIS AND TREATMENT OF INFLAMMATORY BOWEL DISEASE IN THE PUERTO RICAN POPULATION
    45.
    发明申请
    DIAGNOSIS AND TREATMENT OF INFLAMMATORY BOWEL DISEASE IN THE PUERTO RICAN POPULATION 审中-公开
    在波多黎各人口中诊断和治疗炎症性皮肤病

    公开(公告)号:US20100184050A1

    公开(公告)日:2010-07-22

    申请号:US12597710

    申请日:2008-04-25

    IPC分类号: C12Q1/68

    摘要: This invention provides methods of diagnosis and treatment of inflammatory bowel disease. In one embodiment, the invention provides methods of diagnosing and/or predicting susceptibility for inflammatory bowel disease in the Puerto Rican population by determining the presence or absence of a risk variant at the HPS1 locus. In another embodiment, the invention further provides methods of diagnosing and/or predicting protection against inflammatory bowel disease by determining the presence or absence of a protective variant at the IRF1 locus. In another embodiment, the presence in an individual of a risk variant at the CARD8 locus is diagnostic of susceptibility to Crohn's Disease in a Puerto Rican individual. In another embodiment, the presence of a risk variant at the TLR-9 locus in an individual is diagnostic of susceptibility to Crohn's Disease.

    摘要翻译: 本发明提供了炎症性肠病的诊断和治疗方法。 在一个实施方案中,本发明通过确定在HPS1基因座处存在或不存在风险变体来提供在波多黎各人群中诊断和/或预测炎症性肠病易感性的方法。 在另一个实施方案中,本发明进一步提供了通过确定IRF1基因座处存在或不存在保护性变体来诊断和/或预测抗炎性肠病的方法。 在另一个实施方案中,在CARD8基因座上个体存在风险变异体的诊断是波多黎各个体对克罗恩病易感性的诊断。 在另一个实施方案中,个体中TLR-9位点处的风险变体的存在是对克罗恩病易感性的诊断。

    Genetic marker test for lupus
    46.
    发明授权
    Genetic marker test for lupus 有权
    狼疮遗传标记检测

    公开(公告)号:US07037651B2

    公开(公告)日:2006-05-02

    申请号:US09909317

    申请日:2001-07-18

    IPC分类号: C12Q1/68 C12P19/34 C07H21/04

    摘要: Disclosed is a genetic testing method for diagnosing systemic lupus erythematosus (SLE) in a human subject. The method is related to amplifying nucleic acids from human tissue samples and detecting the presence or absence of variant alleles of a gene encoding poly(ADP-ribosyl)transferase expression (PARP), which are diagnostic of SLE or indicate a genetic predisposition for developing SLE. Also disclosed are useful oligonucleotide primers, primer sets and genetic testing kits for detecting a genetic predisposition for developing SLE.

    摘要翻译: 公开了用于诊断人类受试者的系统性红斑狼疮(SLE)的遗传检测方法。 该方法涉及从人组织样品中扩增核酸并检测编码聚(ADP-核糖基)转移酶表达(PARP)的基因的变异等位基因的存在或不存在,其是SLE诊断或指示用于发展SLE的遗传倾向 。 还公开了用于检测发展SLE的遗传易感性的有用的寡核苷酸引物,引物组和遗传检测试剂盒。

    Genetic marker test for lupus
    47.
    发明授权
    Genetic marker test for lupus 失效
    狼疮遗传标记检测

    公开(公告)号:US06280941B1

    公开(公告)日:2001-08-28

    申请号:US09280181

    申请日:1999-03-29

    IPC分类号: C12Q168

    摘要: Disclosed is a genetic testing method for diagnosing systemic lupus erythematosus (SLE) in a human subject. The method is related to amplifying nucleic acids from human tissue samples and analyzing for a variant allele of a gene encoding poly(ADP-ribosyl)transferase expression (PARP), which is diagnostic of SLE or indicates a genetic predisposition for developing SLE. Also disclosed are useful oligonucleotide primers, primer sets and genetic testing kits for detecting a genetic predisposition for developing SLE.

    摘要翻译: 公开了用于诊断人类受试者的系统性红斑狼疮(SLE)的遗传检测方法。 该方法涉及从人组织样品中扩增核酸并分析编码聚(ADP-核糖基)转移酶表达(PARP)的基因的变异等位基因,其是诊断SLE或指示发展SLE的遗传倾向。 还公开了用于检测发展SLE的遗传易感性的有用的寡核苷酸引物,引物组和遗传检测试剂盒。