一例家族性高胆固醇血症患者LDL受体基因新突变位点的临床意义.pdfVIP

Results We find the proband have sign of CAD. Electrocardiogram display Ⅰ、avL、Ⅴ5 and Ⅴ6 ST segment drawdown. The LDL-R binding and internalization activity on the lymphocytes of the FH proband is significantly lower than that of the normal. The FH proband has no mutation in Apo B100 gene Q3500R 、R3531C and R3501W site. We find a novel heterozygosis T→C mutation in the LDL-R extron 4 was detected in the FH proband.we certified it is a new morbigenous mutation. Conclusions 1. The proband is dignosised CAD. He has severe sign of As. 2. The FH patient has no mutation in Apo B100 gene ； 3. A novel homozygosis T→C mutation in the LDL-R gene was detected in the FH patient. 4. Function of LDL receptor in the FH homozygote are at a notbaly low level, it relates probably to the mutation of the FH patient. 5. The patient has a high cholesterol level, which probably because the mutation leading to LDL-R activity degression, it is perhaps reason of CAD occurrence . Key words Familial hipercholesterolemia; low density lipoprotein; mutation; artherosclerosis 5 Clinical significance of LDL-R gene original mutation in a familial hypercholesterolemia patient ABSTRACT Objective Familial hypercholesterolemia （FH ） is an inherited autosomal dominant disorder of lipoprotein metabolism caused by mutations in the LDL-R gene. It causes a rise in LDL-C levels and predisposes to the development of atherosclerosis. The objective of our study is to use the molecule biology technique ，such as PCR,SSCP and so on，which can find the mutation site in the LDL-R gene of the FH constellation. We analyze LDL-R function using FCM. In add