Aim To analyse the mutation site in low density lipoprotein receptor (LDLR) gene of a familial hypercholesteroleia (FH) family. Methods The patients' serum lipids were analysed by enzymatic method. The peripheral whole blood was used to isolate the genomic DNA. The genomic DNAs were used as templets to amplify 18 exons of LDLR gene by polymerase chain reaction (PCR). The PCR products were analysed using polymerase chain reaction- single strand conformation polymorphism (PCR-SSCP) method and the exons showing abnormal band on PCR-SSCP were underwent DNA sequencing. Results A synonymous mutation (AGA471AGG) and a nonsense mutation (TGG483TAG) were identified by PCR-SSCP combined with DNA sequencing. The nonsense mutation (TGG483TAG) introduced a beforehand stop codon in codon 483. Conclusion A novel mutation of LDLC gene was detected by the PCR-SSCP methods.