Abstract: “Familial hypercholesterolemia (FH) has been identified as the genetic disorder disease, which is characterized by high total cholesterol, in particularly, the high level of low density lipoprotein (LDL). The normal function of low density lipoprotein receptor is obligate for the normal of lipid profile. The mutation in exon 4 of LDLR gene has been identified to be responsible to FH. In current study, the PCR sequencing method was applied to analyze the mutation of exon 4 of LDLR gene of forty clinical samples, which were diagnosed with FH. As the results, 29 samples of 40 samples, counting for 72.5%. Notably, the genotypes were heterogeneous. In the representative sample DA1, the mutation 355del and c.379G>T (p.V106F) were found, in which, the mutation c.379G>T (p.V106F) has not been previously reported previously. In conclusion, this study being the first comprehensive mutation analysis of the LDLR causing FH in our country. Additionally, mutations identification in exon 4 of LDLR gene”

Keywords: LDLR, exon 4, familial hypercholesterolemia (FH), c.379G>T (p.V106F).