公开(公告)号：US06824972B2

公开(公告)日：2004-11-30

申请号：US09863049

申请日：2001-05-22

申请人： Sue J. Kenwrick ,  Hayley Woffendin ,  Arnold Munnich ,  Asmae Smahi ,  Alain Israel ,  Annemarie Poustka ,  Nina Heiss ,  Michele D'Urso ,  Richard A. Lewis ,  David L. Nelson ,  Swaroop Aradhya ,  Moise Levy

发明人： Sue J. Kenwrick ,  Hayley Woffendin ,  Arnold Munnich ,  Asmae Smahi ,  Alain Israel ,  Annemarie Poustka ,  Nina Heiss ,  Michele D'Urso ,  Richard A. Lewis ,  David L. Nelson ,  Swaroop Aradhya ,  Moise Levy

IPC分类号： C12Q100

CPC分类号： C12Q1/6883 ,  C12Q2600/156 ,  G01N2333/4703

摘要： Incontinentia Pigmenti (IP) is a neurocutaneous genodermatosis that segregates as an X-linked dominant disorder with a high probability of prenatal male lethality. A locus in Xq28 containing NF-&kgr;B Essential Modulator, a gene product involved in the activation of NF-kB and central to many pro-inflammatory and apoptotic pathways, contains mutations in the majority of cases of IP. Disclosed are methods, compositions and kits directed to a defect in a NF-&kgr;B related disease such as IP.

摘要翻译： 色素沉着（IP）是一种神经皮肤基底细胞病，其分离为具有高产前男性致死率的X连锁显性疾病。 含有NF-κB基本调节剂的Xq28基因座，涉及NF-kB的激活和许多促炎细胞凋亡通路中枢的基因产物，在大多数IP的病例中都包含突变。 公开了针对NF-κB相关疾病如IP的缺陷的方法，组合物和试剂盒。