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[Relationship between changes in activities of low density lipoprotein receptor and gene mutation in familial
Qingfeng Pang1, Mingfang Li, Weicheng Hu
1Atherosclerosis Research Center, Nanjing Medical University Nanjing, 210029 China. lmfan@njmu.edu.cn
Objective:
To analyse the LDL receptor (LDLR) function and gene mutation in a familial hypercholesterolemia (FH) patient and illustrate the effects of gene mutation type on LDL receptor function.
Methods:
The pedigree of a FH proband was set up according to the serum lipid analysis and clinical presentations. The LDLR functions of cultured fibroblasts were investigated by radiolabelled ligand method. PCR-SSCP and DNA sequencing were performed on the genomic DNA isolated from whole blood
Results:
11 heterozygotes and 1 homozygote of FH were confirmed by pedigree analysis. The binding of LDL by LDLR of the proband was nearly normal while the uptake and degradation of LDL were only 3.6% and 1.7% as compared with controls. A frameshift mutation resulted from a G insert in codon 599 and a null mutation caused by CCA-->CCG base shift in codon 842 were found in exon 17.
Conclusion:
A novel mutation of LDLR gene was reported. This mutation may severely affect the function of LDLR.