公开(公告)号：US08669049B1

公开(公告)日：2014-03-11

申请号：US10542937

申请日：2004-01-21

申请人： Pedro Mata Lopez ,  Rodrigo Alberto Alonso Karlezi ,  Pilar Mozas Alonso ,  Gilberto Reyes Leal ,  Miguel Pocovi Mieras ,  Sergio Castillo Fernandez ,  Diego Tejedor Hernandez ,  Antonio Martinez Martinez ,  Miguel Mallen Perez

发明人： Pedro Mata Lopez ,  Rodrigo Alberto Alonso Karlezi ,  Pilar Mozas Alonso ,  Gilberto Reyes Leal ,  Miguel Pocovi Mieras ,  Sergio Castillo Fernandez ,  Diego Tejedor Hernandez ,  Antonio Martinez Martinez ,  Miguel Mallen Perez

IPC分类号： C12Q1/68 ,  C12P19/34 ,  C07H21/02

CPC分类号： C12Q1/6883 ,  C12Q2600/156

摘要： The invention relates to extracorporeal methods of analyzing the presence or absence of mutations which cause familial hypercholesterolemia. The inventive methods describe the way in which said mutations can be detected using a DNA sample from an individual and comprising the following: chain reaction of the polymerase with primers which are complementary to the low-density lipoprotein receptor gene; analysis of the amplified product by sequencing; restriction analysis; single strand conformation polymorphism techniques; heteroduplex analysis and analysis of a device on top of a biochip glass support on which oligonucleotide probes are disposed, which can be used to detect the aforementioned mutations in the DNA.

摘要翻译： 本发明涉及分析引起家族性高胆固醇血症的突变的存在或不存在的体外方法。 本发明的方法描述了使用来自个体的DNA样品可以检测所述突变的方式，其包括以下：聚合酶与低密度脂蛋白受体基因互补的引物的链式反应; 通过测序分析扩增产物; 限制分析; 单链构象多态性技术; 异源二聚体分析和分析在其上设置有寡核苷酸探针的生物芯片玻璃载体上的装置，其可用于检测DNA中的上述突变。