Abstract:Aim To establish a method for low density lipoprotein receptor (LDLR) genotyping and research the relationship between genetic polymorphism of LDLR and variation in serum lipid levels. Methods The frequency distribution of LDLR, apo E genotypes and aelles were analysed in the method for LDLR, apo E genotyping using polymerase chain reaction restriction fragment length polymorphism (PCR RFLP), in samples of 81 unrelated normallipidaemic individuals and 51 hypercholesterolemia patients. And to examine the interaction effect on lipid level between the LDLR/AvaⅡ and apolipoprotein E polymorphisms. Results There is a significant relationship between“ + ”allele and high total cholesterol, LDL cholesterol levels. The apo E 3/2 and LDLR AvaⅡ(-/-) individual’s cholesterol level was lower than apo E 4/3 and LDLR AvaⅡ (+/+)individual’s. Conclusions The present study suggests that the LDLR polymorphism may be associated with interindividual variation in plasma cholesterol level. The effects of apo E and LDLR genes on cholesterol levels were independent from each other.