SEQUENCE ENCODING MAMMALIAN SULFONYLUREA RECEPTOR AND METHOD OF DETECTING PERSISTENT HYPERINSULINEMIC HYPOGLYCEMIA OF INFANCY
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.
申请公布号
EP0789705(A1)
申请公布日期
1997.08.20
申请号
EP19950916316
申请日期
1995.04.12
申请人
THE BAYLOR COLLEGE OF MEDICINE;BOARD OF REGENTS THE UNIVERSITY OF TEXAS SYSTEM