IDENTIFICATION OF A DNA VARIANT ASSOCIATED WITH ADULT TYPE HYPOLACTASIA
    2.
    发明公开
    IDENTIFICATION OF A DNA VARIANT ASSOCIATED WITH ADULT TYPE HYPOLACTASIA 有权
    鉴定所获得的乳糖不耐受相关的DNA变体的

    公开(公告)号:EP1417305A2

    公开(公告)日:2004-05-12

    申请号:EP02794596.3

    申请日:2002-08-09

    IPC分类号: C12N15/00

    摘要: The present invention relates to a nucleic acid molecule comprising a 5' portion of an intestinal lactase-phlorizine hydrolase (LPH) gene contributing to or indicative of the adult-type hypolactasia wherein said nucleic acid molecule is selected from the group consisting of (a) a nucleic acid molecule having or comprising the nucleic acid sequence of SEQ ID NO: 1, the sequence of SEQ ID NO:1 is also depicted in the Fig. 4 and comprised in the sequence as depicted in the Fig. 8; (b) a nucleic acid molecule having or comprising the nucleic acid sequence of SEQ ID NO: 2, the sequence of SEQ ID NO:2 is also depicted in Fig.5 and comprised in the sequence as depicted in the Fig. 9; (c) a nucleic acid molecule of at least 20 nucleotides the complementary strand of which hybridizes under stringent conditions to the nucleic acid molecule of (a) or (b), wherein said polynucleotide/nucleic acid molecule has at a position corresponding to position -13910 5' from the LPH gene a cytosine residue; and (d) a nucleic acid molecule of at least 20 nucleotides the complementary strand of which hybridizes under stringent conditions to the nucleic acid molecule of (a) or (b), wherein said polynucleotide/nucleic acid molecule has at a position corresponding to position -22018 5' from the LPH gene a guanine residue. The present invention further relates to methods for testing for the presence of or predisposition to adult-type hypolactasia that are based on the analysis of an SNP contained in the above recited nucleic acid molecule. Additionally, the present invention relates to diagnostic composition and kit useful in the detection of the presence of or predisposition to adult-type hypolactasia.

    IDENTIFICATION OF SNPs ASSOCIATED WITH HYPERLIPIDEMIA, DYSLIPIDEMIA AND DEFECTIVE CARBOHYDRATE METABOLISM
    3.
    发明公开
    IDENTIFICATION OF SNPs ASSOCIATED WITH HYPERLIPIDEMIA, DYSLIPIDEMIA AND DEFECTIVE CARBOHYDRATE METABOLISM 审中-公开
    高脂血症,血脂异常和碳水化合物的代谢中具有缺陷相关的SNPs

    公开(公告)号:EP1716171A1

    公开(公告)日:2006-11-02

    申请号:EP05715373.6

    申请日:2005-02-17

    摘要: The present invention relates to a nucleic acid molecule comprising a chromosomal region contributing to or indicative of hyperlipidemias and/or dyslipidemias or defective carbohydrate metabolism, wherein said nucleic acid molecule is selected from the group consisting of: (a) a nucleic acid molecule having or comprising the nucleic acid sequence of SEQ ID NO: 1, wherein said nucleic acid séquence has one or more mutations having an effect on USFI function; (b) a nucleic acid molecule having or comprising the nucleic acid sequence of SEQ ID NO: 1, wherein. said nucleic acid sequence is characterized by comprising a guanine or an adenine residue in position 3966 in intron 7 of the USF1 sequence; and/or (c) a nucleic acid molecule having or comprising the nucleic acid sequence of SEQ ID NO: 1, wherein said nucleic acid sequence is characterized by comprising a cytosine or a thymine residue in position 5205 in, exon 11 of the USF1 sequence; wherein said nucleic molecule extends, at a maximum, 50000 nucleotides over the 5' and/or 3' end of the .nucleic acid molecule of SEQ ID NO: 1. The present invention further relates to a diagnostic composition comprising a nucleic acid molecule encoding USF1 or a fragment thereof, the nucleic acid molecule disclosed herein, the vector, the primer or primer pair of the present invention or an antibody specific for USF1. Finally, the present invention relates to the use of the nucleic acid molecule of the invention for the preparation of a pharmaceutical composition for the treatment of hyperlipidemia, dyslipidemia, coronary heart disease, type II diabetes, metabolic syndrome, hypertension or atherosclerosis.

    NUCLEIC ACID MOLECULE ENCODING A (POLY)PEPTIDE CO-SEGREGATING IN MUTATED FORM WITH AUTOIMMUNE POLYENDOCRINOPATHY CANDIDIASIS ECTODERMAL DYSTROPHY (APECED)
    4.
    发明公开
    NUCLEIC ACID MOLECULE ENCODING A (POLY)PEPTIDE CO-SEGREGATING IN MUTATED FORM WITH AUTOIMMUNE POLYENDOCRINOPATHY CANDIDIASIS ECTODERMAL DYSTROPHY (APECED) 审中-公开
    编码的(多)肽,其在与自身免疫POLYENDOKRINOPATHER突变形式的核酸分子,念珠菌外胚层营养不良(APEDEC)共分离

    公开(公告)号:EP1027435A2

    公开(公告)日:2000-08-16

    申请号:EP98952694.2

    申请日:1998-10-02

    摘要: The present invention relates to a nucleic acid molecule encoding a (poly)peptide co-segregating in mutated form with Autoimmune Polyendocrinopathy Candidiasis Ectodermal Dystrophy (APECED). In addition, the invention relates to a mammalian, preferably murine, homologue of the above nucleic acid molecule. The present invention further relates to a nucleic acid molecule deviating by at least one mutation from the nucleic acid molecule described above wherein said mutation co-segregates with APECED and is an insertion, a deletion, a substitution and/or an inversion, and wherein said mutation further results in a loss or a gain of function of the (poly)peptide encoded by said mutated nucleic acid molecule. Furthermore, the present invention relates to a vector comprising the nucleic acid molecules described above and to a host transformed with said vector. In addition, the present invention relates to a process of recombinantly producing a (poly)peptide encoded by the nucleic acid molecules described above comprising culturing or raising said host and isolating said (poly)peptide from said culture or said host. The present invention further relates to the (poly)peptide encoded by said nucleic acid molecules or produced by the process described above. Additionally, the present invention relates to an antibody that specifically recognizes said (poly)peptides. Moreover, the present invention relates to a method for testing for a carriership for APECED or for a corresponding disease state comprising testing a sample obtained from a prospective patient or from a person suspected of carrying a predisposition for a mutation in the wild-type nucleic acid molecule described above or a mutated form of the (poly)peptide encoded by said mutated nucleic acid molecule in an immuno-assay using the antibody described above.

    PRODUCTION OF OUTER MEMBRANE (OM) PROTEINS IN GRAM-POSITIVE BACTERIA AND RECOVERY OF PROTECTIVE EPITOPES
    5.
    发明公开
    PRODUCTION OF OUTER MEMBRANE (OM) PROTEINS IN GRAM-POSITIVE BACTERIA AND RECOVERY OF PROTECTIVE EPITOPES 失效
    生产的革兰氏阳性菌和表位的有保护效果提取外膜蛋白。

    公开(公告)号:EP0538318A1

    公开(公告)日:1993-04-28

    申请号:EP91912587.0

    申请日:1991-07-05

    摘要: L'invention décrit un procédé de production de protéines de membrane externe clonées à partir de bactéries pathogènes Gram négatif. L'invention décrit également un procédé pour renaturer les protéines de membrane externe clonées ainsi produites pour que lesdites protéines clonées retrouvent des épitodes immunologiquement actifs et capables de promouvoir, chez les mammifères et d'autres animaux, la production d'anticorps possédant des qualités bactéricides et pouvant créer une protection contre des infections causées par des bactéries pathogènes Gram négatif. Selon le procédé décrit, l'ADN codant pour les protéines de membrane externe, obtenues à partir de bactéries Gram négatif, connues pour être pathogènes chez les hommes et les animaux, est exprimé dans un hôte bactérien Gram positif. Les protéines de membrane externe recombinées ou clonées ainsi produites sont ensuite renaturées pour qu'elles retrouvent des épitodes biologiquement et immunologiquement actifs et capables de promouvoir, chez les animaux et les hommes, la production d'anticorps; les anticorps sont bactéricides et ils protègent les animaux et les hommes contre des infections causées par les bactéries pathogènes Gram négatif à partir desquelles on a dérivé le gène codant pour les protéines de membrane externe clonées. Le procédé selon l'invention est utilisé, par exemple, pour produire la protéine de membrane externe, de la classe 1, à partir de Meisseria meningitidis, la protéine de membrane externe, de la classe 3, à partir de Meisseria meningitidis, et la protéine de surface externe OmpA à partir de Escherichia Coli.

    IDENTIFICATION OF A DNA VARIANT ASSOCIATED WITH ADULT TYPE HYPOLACTASIA
    6.
    发明授权
    IDENTIFICATION OF A DNA VARIANT ASSOCIATED WITH ADULT TYPE HYPOLACTASIA 有权
    鉴定所获得的乳糖不耐受相关的DNA变体的

    公开(公告)号:EP1417305B1

    公开(公告)日:2012-07-18

    申请号:EP02794596.3

    申请日:2002-08-09

    IPC分类号: C12N15/00

    摘要: The present invention relates to a nucleic acid molecule comprising a 5' portion of an intestinal lactase-phlorizine hydrolase (LPH) gene contributing to or indicative of the adult-type hypolactasia wherein said nucleic acid molecule is selected from the group consisting of (a) a nucleic acid molecule having or comprising the nucleic acid sequence of SEQ ID NO: 1, the sequence of SEQ ID NO:1 is also depicted in the Fig. 4 and comprised in the sequence as depicted in the Fig. 8; (b) a nucleic acid molecule having or comprising the nucleic acid sequence of SEQ ID NO: 2, the sequence of SEQ ID NO:2 is also depicted in Fig.5 and comprised in the sequence as depicted in the Fig. 9; (c) a nucleic acid molecule of at least 20 nucleotides the complementary strand of which hybridizes under stringent conditions to the nucleic acid molecule of (a) or (b), wherein said polynucleotide/nucleic acid molecule has at a position corresponding to position -13910 5' from the LPH gene a cytosine residue; and (d) a nucleic acid molecule of at least 20 nucleotides the complementary strand of which hybridizes under stringent conditions to the nucleic acid molecule of (a) or (b), wherein said polynucleotide/nucleic acid molecule has at a position corresponding to position -22018 5' from the LPH gene a guanine residue. The present invention further relates to methods for testing for the presence of or predisposition to adult-type hypolactasia that are based on the analysis of an SNP contained in the above recited nucleic acid molecule. Additionally, the present invention relates to diagnostic composition and kit useful in the detection of the presence of or predisposition to adult-type hypolactasia.