公开(公告)号：US06406846B1

公开(公告)日：2002-06-18

申请号：US08949344

申请日：1997-10-14

申请人： David Whitcomb ,  Garth D. Ehrlich ,  Michael C. Gorry

发明人： David Whitcomb ,  Garth D. Ehrlich ,  Michael C. Gorry

IPC分类号： C12Q0168

CPC分类号： C12Q1/6883 ,  C12Q2600/156

摘要： A method for determining whether a human patient is susceptible to hereditary pancreatitis. The method comprises the steps of obtaining nucleic acid from the human patient. Then there is the step of checking the nucleic acid for a mutation that indicates hereditary pancreatitis. A primer which reacts with a human trypsinogen gene to identify hereditary pancreatitis. A method for detecting in a human a mutation in a trypsinogen gene indicative of hereditary pancreatitis. The invention comprises the steps of obtaining a sample having DNA of the patient. Then there is the step of processing the sample so the DNA will be recognized by a desired restriction enzyme. Next there is the step of introducing the desired restriction enzyme to the DNA wherein the recognizing of the desired restriction enzyme to the DNA indicates the presence of the mutation.

摘要翻译： 一种确定人类患者是否易患遗传性胰腺炎的方法。 该方法包括从人类患者获得核酸的步骤。 然后有检查核酸的突变指示遗传性胰腺炎的步骤。 与人胰蛋白酶原基因反应以鉴定遗传性胰腺炎的引物。 一种在人类中检测指示遗传性胰腺炎的胰蛋白酶原基因突变的方法。 本发明包括获得具有患者DNA的样品的步骤。 然后是处理样品的步骤，使得DNA将被期望的限制酶识别。 接下来，将所需的限制酶引入到DNA中，其中识别所需的限制性内切酶的DNA表明存在突变。