AimTo investigate proprotein convertase subtilisin/kexin 9 (PCSK9) gene mutations in Chinese with hypercholesterolemia.MethodsGenomic DNA was extracted from 100 cases of hypercholesterolemia and 100 healthy normal individuals with age and sex matched.Apolipoprotein B100 (Apo B100) and low density lipoprotein receptor (LDLR) mutations were excluded.All of the 12 exons of PCSK9 gene were amplified by polymerase chain reaction (PCR).The PCR products were sequenced directly.ResultsThree missense mutation (D320N, V312F and R319E), one frameshift mutation (934delGV312S), three samesense mutation (A305A, Q342Q, K125K) and one splice junction mutation (5′ splice junction site mutation in intron 2) were found in PCSK9 gene in six patients among 100 patients.ConclusionThe mutations of PCSK9 gene are maybe one reason to cause Chinese hypercholesterolemia.