| The low density lipoprotein (LDL) is the main lipoprotein foratherosclerosis. The catabolism of LDL carries out chiefly by way ofreceptor-mediated endocytosis. LDL receptor plays a central role in theregulation of plasma cho1esterol homeostasis.A mutation in the LDLreceptor gene causes the autosoma1 dominant disorder familialhypercholeesterolemia. The study of DNA polymorphisms of the LDLreceptor gene has significance to elucidating the molecular mechanismof FH, genetic diagnosis and the usage as a relative genetic marker.The suitable primers were designed in this study. HincII and NcoIpolymorphic loci at the LDL receptor gene were analysed by PCR-RFLP,We have studied the difference and correlation between the normalcontrol and hypercholesterolemia from exon l2 and exon 1 8 of the LDLreceptor gene. The purpose is to investigate the structure of LDLreceptor gene. The frequencies of the RFLPs in Chinese were comparedamong different ethnis and popu1ations.The tests showed:(l) A HincII locus at base l783 is fOund to be polymorphic and iscaused by C-T subsitution, In normalipidemia, the frequency of Cp and T is 0.703 a11d 0.297 respectively, and in hypercholesterolemia,w the frequency of C & T is 0.774 and 0,226 respectively, whi1e. comparing with contro1.(2) There is a NcoI polymorphism locus at base 4049 of exon l8, Innormalipidemia, the frequency of A, and A, allele is 0.667 and0. 3 3 3 respective=ly. In hypercholesteroIemia, the frequency of A,and A, allele is 0.488 and 0, 5l2 respectively.- 3 -(3) There is no significance between the control andhypercholesterolmeia in HincII polymorphism, while NcoIpolyporphism is found to be significant.C o nclu s io n:(l ) There is significant corre1ation existed between this RFLP locusand hypercholesterolemia. It can be served as a reference in linkagedi sease analys is.(2) The frequencies of HincII and NcoI are suitable, so they are usefulmarkers for genetic linkage ana1ysis.
|
PDF Full Text Request