公开(公告)号：US5863724A

公开(公告)日：1999-01-26

申请号：US404531

申请日：1995-03-15

申请人： Joseph Bryan ,  Pamela Thomas ,  Gilbert J. Cote ,  Robert F. Gagel ,  Lydia Aguilar-Bryan ,  Daniel A. Nelson

发明人： Joseph Bryan ,  Pamela Thomas ,  Gilbert J. Cote ,  Robert F. Gagel ,  Lydia Aguilar-Bryan ,  Daniel A. Nelson

IPC分类号： A01K67/027 ,  A61K38/00 ,  C07H21/04 ,  C07K14/705 ,  C07K16/44 ,  C12N5/10 ,  C12N15/09 ,  C12N15/12 ,  C12N15/85 ,  C12P21/02 ,  C12P21/08 ,  C12Q1/68 ,  C12R1/91 ,  G01N33/566 ,  G01N33/577 ,  C12P19/34

CPC分类号： C12N15/8509 ,  C07K14/705 ,  C12Q1/6883 ,  A01K2217/05 ,  A01K2217/075 ,  A01K2227/105 ,  A01K2267/0306 ,  A61K38/00 ,  C12Q2600/156 ,  C12Q2600/166 ,  Y10S435/81

摘要： The present invention is directed to a method of detecting persistent hyperinsulinemic hypoglycemia of infancy comprising obtaining a sample comprising patient nucleic acids from a patient tissue sample; amplifying sulfonylurea receptor specific nucleic acids from said patient nucleic acids to produce a test fragment; obtaining a sample comprising control nucleic acids from a control tissue sample; amplifying control nucleic acids encoding wild type sulfonylurea receptor to produce a control fragment; comparing the test fragment with the control fragment to detect the presence of a sequence difference in the test fragment, wherein a difference in said test fragment indicates persistent hyperinsulinemic hypoglycemia of infancy. A diagnostic kit and primers for the detection of persistent hyperinsulinemic hypoglycemia of infancy are also within the scope of the present invention.

摘要翻译： 本发明涉及一种检测婴幼儿期高血糖低血糖症的方法，包括从患者组织样品获得包含患者核酸的样品; 从所述患者核酸扩增磺酰脲受体特异性核酸以产生测试片段; 从对照组织样品获得包含对照核酸的样品; 扩增编码野生型磺酰脲受体的对照核酸以产生对照片段; 将测试片段与对照片段进行比较以检测测试片段中序列差异的存在，其中所述测试片段的差异表示婴儿期持续性高胰岛素血症低血糖。 用于检测婴幼儿持续性高胰岛素血症低血糖症的诊断试剂盒和引物也在本发明的范围内。