公开(公告)号：EP2298878A3

公开(公告)日：2011-11-16

申请号：EP10185041.0

申请日：2001-11-02

申请人： Dana Farber Cancer Institute ,  OREGON HEALTH SCIENCES UNIVERSITY

发明人： D'Andrea, Alan D. ,  Taniguchi, Toshiyasu ,  Timmers, Cynthia ,  Grompe, Markus

IPC分类号： C12N15/00 ,  C07K14/00 ,  C07K16/00 ,  G01N33/574 ,  C12Q1/68 ,  A01K67/027

CPC分类号： G01N33/57484 ,  A01K2217/05 ,  A01K2217/075 ,  C07K14/47 ,  C07K16/18 ,  C12Q1/6886 ,  C12Q2600/156 ,  C12Q2600/158 ,  G01N33/5091 ,  G01N33/574 ,  G01N2500/00

摘要： Methods and compositions for the diagnosis of cancer susceptibilities, defective DNA repair mechanisms and treatments thereof are provided. Among sequences provided here, the FANCD2 gene has been identified, mapped on the 3p chromosome, cloned into recombinant vectors, used to prepare recombinant cells and sequenced. The FANCD2 gene sequence provides probes and primers for screening patients in genetic based test and for diagnosing Fanconi anemia and cancer. It has also been possible to target the FANCD2 gene in vivo for preparing experimental mouse models for use in screening new therapeutic agents for treating conditions involving defective DNA repair. Vectors are described for use in gene therapy. The FANCD2 polypeptide has been sequenced and has been shown to exist in two isoforms identified as FANCD2-S and the mono-ubiquinated FANCD-L form. Antibodies including polyclonal and monoclonal antibodies have been prepared that distinguish the two isoforms and have been used in diagnostic tests to determine whether a subject has an intact FA pathway. The FANCD2 has been localized to the nucleus and is associated with BRCA 1 foci.

公开(公告)号：EP2298878A2

公开(公告)日：2011-03-23

申请号：EP10185041.0

申请日：2001-11-02

申请人： Dana Farber Cancer Institute ,  OREGON HEALTH SCIENCES UNIVERSITY

发明人： D'Andrea, Alan D. ,  Taniguchi, Toshiyasu ,  Timmers, Cynthia ,  Grompe, Markus

IPC分类号： C12N15/00 ,  C07K14/00 ,  C07K16/00 ,  G01N33/574 ,  C12Q1/68 ,  A01K67/027

CPC分类号： G01N33/57484 ,  A01K2217/05 ,  A01K2217/075 ,  C07K14/47 ,  C07K16/18 ,  C12Q1/6886 ,  C12Q2600/156 ,  C12Q2600/158 ,  G01N33/5091 ,  G01N33/574 ,  G01N2500/00

摘要： Methods and compositions for the diagnosis of cancer susceptibilities, defective DNA repair mechanisms and treatments thereof are provided. Among sequences provided here, the FANCD2 gene has been identified, mapped on the 3p chromosome, cloned into recombinant vectors, used to prepare recombinant cells and sequenced. The FANCD2 gene sequence provides probes and primers for screening patients in genetic based test and for diagnosing Fanconi anemia and cancer. It has also been possible to target the FANCD2 gene in vivo for preparing experimental mouse models for use in screening new therapeutic agents for treating conditions involving defective DNA repair. Vectors are described for use in gene therapy. The FANCD2 polypeptide has been sequenced and has been shown to exist in two isoforms identified as FANCD2-S and the mono-ubiquinated FANCD-L form. Antibodies including polyclonal and monoclonal antibodies have been prepared that distinguish the two isoforms and have been used in diagnostic tests to determine whether a subject has an intact FA pathway. The FANCD2 has been localized to the nucleus and is associated with BRCA 1 foci.

摘要翻译： 提供了用于诊断癌症易感性，缺陷DNA修复机制及其治疗的方法和组合物。 在这里提供的序列中，已经鉴定了FANCD2基因，映射在3p染色体上，克隆到重组载体中，用于制备重组细胞并测序。 FANCD2基因序列提供探针和引物，用于筛选遗传基础测试患者和诊断范康尼贫血和癌症。 也可以在体内靶向FANCD2基因，以制备用于筛选用于治疗涉及有缺陷的DNA修复的病症的新治疗剂的实验小鼠模型。 描述了用于基因治疗的载体。 FANCD2多肽已被测序，已被证明存在于被鉴定为FANCD2-S和单泛素FANCD-L形式的两种同种型中。 已经制备了包括多克隆和单克隆抗体的抗体，其区分两种同种型并且已经用于诊断测试以确定受试者是否具有完整的FA途径。 FANCD2已被定位于细胞核，并与BRCA 1病灶相关。