[Screening for low-density lipoprotein receptor gene mutations in familial hypercholesterolemia Chinese]

To screen the mutations of low-density lipoprotein receptor (LDLR) gene in Chinese familial hypercholesterolemia (FH) patients.

7 patients with clinical phenotype of homozygous FH and their parents were investigated for mutations in all the eighteen exons of LDLR gene. Screening was carried out using PCR-SSCP and direct DNA sequencing and LDLR gene mutation database was searched to identify the alteration. In addition, the apolipoprotein B gene (apo B) was screened for known mutations (R3500Q) that caused familial defective apo B100 (FDB) with polymerase chain reaction-restriction fragment length polymorphism (PCR-RFLP).

Nine mutations in the LDLR gene were identified in the FH patients. All the mutations except C255R have not been published in the LDLR gene mutation database. No mutation of apo B100 (R3500Q) was observed.

Chinese FH patients may have specific spectrum and regional difference of LDLR gene mutations. Apolipoprotein B-100 gene mutation might not be the main cause of hypercholesterolemia patients in China.