家族性高胆固醇血症患者LDL受体基因突变及突变基因补偿的前期研究-生物化学与分子生物学专业论文.docxVIP

PAGE PAGE 10 Prophase study of gene mutation and mutant compensation on familial hypercholesterolemia proband [Obejective] Familial hypercholesterolemia（FH）is one kind of monogenic autosome dominant inherited disease which always lead to atherosclerosis（As）and premature coronary heart disease（CAD）. The objective of this study is to use flow cytometer analysis the binding and internalization activity of the LDL-R protein on the lymphocytes of the FH proband,then amplify the LDL-R cDNA sequence to establish the basis to mutant compensation. [Methods] Lymphocytes were isolated from the whole