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    Novel brain expressed gene and protein associated with bipolar disorder
    4.
    发明申请
    Novel brain expressed gene and protein associated with bipolar disorder 审中-公开
    新型脑表达与双相障碍相关的基因和蛋白质

    公开(公告)号：US20050118581A1

    公开(公告)日：2005-06-02

    申请号：US10479472

    申请日：2002-06-06

    申请人： Jurgen, Peter, Lode Del-Favero ,  Christine Van Broeckhoven

    发明人： Jurgen, Peter, Lode Del-Favero ,  Christine Van Broeckhoven

    IPC分类号： C12N15/09 ,  A61K38/00 ,  A61K38/17 ,  C07K14/47 ,  C12N1/15 ,  C12N1/19 ,  C12N1/21 ,  C12N5/10 ,  C12N15/12 ,  C12P21/02 ,  C12Q1/68 ,  C07H21/04 ,  C07K14/705

    CPC分类号： C07K14/47 ,  A61K38/00

    摘要： We previously identified 18q21.33-q23 as a candidate region for bipolar (BP) disorder and constructed a yeast artificial chromosome (YAC) contig map. In a next step we isolated and analysed all CAG/CTG repeats from this region and excluded them from involvement in BP disorder. Here, in the process of identifying all CCG/CGG repeats from the region, we isolated three potential CpG islands, one of which is located 1.5 kb upstream of a predicted exon of 3639 bp. Further analysis showed this was part of a novel CpG-associated, brain-expressed gene, that we called NCAGI (Novel CpG Associated Gene 1). Mutation analysis of this positional and functional candidate identified two single nucleotide polymorphisms, none of which were shown to be associated with the BP phenotype.

    摘要翻译： 我们以前确定了18q21.33-q23作为双相（BP）病症的候选区域，并构建了酵母人造染色体（YAC）重叠群图。 在下一步中，我们分离并分析了该区域的所有CAG / CTG重复序列，并排除了它们参与BP紊乱。 在这里，在鉴定该区域的所有CCG / CGG重复序列的过程中，我们分离了三个潜在的CpG岛，其中一个位于预测的3639bp外显子上游1.5kb。 进一步的分析表明，这是一个新的CpG相关的脑表达基因的一部分，我们称之为NCAGI（新型CpG相关基因1）。 该位置和功能候选物的突变分析鉴定了两个单核苷酸多态性，其中没有一个显示与BP表型相关。

    Nucleotide sequences, probes and a process for the in vitro diagnosis of chromosomal anomalies correlated with CMT1A disease
    5.
    发明授权
    Nucleotide sequences, probes and a process for the in vitro diagnosis of chromosomal anomalies correlated with CMT1A disease 失效
    核苷酸序列，探针和体外诊断染色体异常的过程与CMT1A疾病相关

    公开(公告)号：US6110670A

    公开(公告)日：2000-08-29

    申请号：US808032

    申请日：1997-03-04

    申请人： Christine Van Broeckhoven ,  Peter Raeymaekers ,  Peter De Jonghe ,  Jean-Jacques Martin

    发明人： Christine Van Broeckhoven ,  Peter Raeymaekers ,  Peter De Jonghe ,  Jean-Jacques Martin

    IPC分类号： C07H21/00 ,  C12Q1/68

    CPC分类号： C12Q1/6883 ,  C12Q2600/156 ,  C12Q2600/172

    摘要： The invention relates to a process for the in-vitro diagnosis of chromosomal anomalies liable to be correlated with CMT1a disease. The invention also relates to probes intended in this in-vitro diagnosis process and to kits containing said probes. The probes of the invention can contain a sequence constituted of from about 15 successive nucleotides of a Not1 fragment, with said Not1 fragment having 1.2.times.10.sup.6 base pairs and being obtained after digesting human DNA of patients with Not1, separating the fragments resulting from digestion by pulsed field gel electrophoresis and hybridizing the resulting fragments with any of the probes VAW409, EW401 or VAW412 or their derivatives, to about the total number of the successive nucleotides of the Not1 fragment. The probes enable the detection of the duplication of a part of chromosome 17p.

    摘要翻译： 本发明涉及一种用于体外诊断易于与CMT1a疾病相关的染色体异常的方法。 本发明还涉及旨在在该体外诊断过程中的探针和包含所述探针的试剂盒。 本发明的探针可以含有由Not1片段的大约15个连续核苷酸组成的序列，所述Not1片段具有1.2×106碱基对，并且在用Not1消化患者的人DNA后获得，将通过脉冲消化产生的片段分离 将所得片段与任何探针VAW409，EW401或VAW412或其衍生物杂交，得到Not1片段的连续核苷酸的总数。 这些探针可以检测染色体17p的一部分的重复。

    Brain expressed cap-2 gene and protein associated with bipolar disorder
    6.
    发明申请
    Brain expressed cap-2 gene and protein associated with bipolar disorder 审中-公开
    脑中表达了与双相障碍相关的cap-2基因和蛋白质

    公开(公告)号：US20050095590A1

    公开(公告)日：2005-05-05

    申请号：US10489185

    申请日：2002-09-17

    申请人： Jurgen Del-Favero ,  Christine Van Broeckhoven

    发明人： Jurgen Del-Favero ,  Christine Van Broeckhoven

    IPC分类号： G01N33/53 ,  C07K14/81 ,  C12N15/09 ,  C12N15/15 ,  C12Q1/68 ,  C12Q1/6883 ,  G01N33/566

    CPC分类号： C07K14/8121 ,  C12Q1/6883 ,  C12Q2600/156

    摘要： We previously identified 18q21.33-q23 as a candidate region for bipolar (BP) disorder and constructed a yeast artificial chromosome (YAC) contig map. In a next step we isolated and analysed all CAG/CTG repeats from this region and excluded them from involvement in BP disorder. Here, in the process of identifying all CCG/CGG repeats from the region, we found a cluster of 6 genes encoding for serpins. For one of them, CAP2 located at 18q21.3, a mutation analysis was performed. Analysis of the thus identified single nucleotide polymorphisms (six in total) revealed a statistically significant association of SNP c.942G>T with BP disorder. It is thus an object of the present invention to provide a method of diagnosing BP or susceptibility to BP in an individual which method comprises determining, in a sample from the individual, the single nucleotide polymorphism in the CAP2 gene of the individual, and determining the status of the individual by reference to polymorphism in the CAP2 gene.

    摘要翻译： 我们以前确定了18q21.33-q23作为双相（BP）病症的候选区域，并构建了酵母人造染色体（YAC）重叠群图。 在下一步中，我们分离并分析了该区域的所有CAG / CTG重复序列，并排除了它们参与BP紊乱。 在这里，在从该区域鉴定所有CCG / CGG重复序列的过程中，我们发现了一组编码丝氨酸蛋白酶的6个基因。 其中一例CAP2位于18q21.3，进行突变分析。 对这样鉴定的单核苷酸多态性（总共6个）的分析显示SNP c.942G> T与BP紊乱的统计学显着关联。 因此，本发明的目的是提供一种在个体中诊断BP或对BP敏感性的方法，该方法包括在来自个体的样品中确定个体的CAP2基因的单核苷酸多态性，并确定 参考CAP2基因多态性的个体状态。