Device and method for the detection of mutations in the gene sequence isolated low-density lipoprotein receptors associated with familial hypercholesterolemia (LDL-r)

摘要

The present invention relates to in vitro method to analyze the presence or absence of the mutation that causes familial hypercholesterolemia. Describes a method that can detect the mutation using DNA sample from an individual, following, namely polymerase chain reaction using primers complementary to the low density lipoprotein receptor gene, the method of the present invention, by sequencing Analysis of the amplified products, restriction analysis, process single strand conformation polymorphism, heteroduplex analysis, and include an analysis of the device in the biochip glass support top oligonucleotide probe array, the method of DNA can be used to detect the mutation.