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  • Title: [Relationship between changes in activities of low density lipoprotein receptor and gene mutation in familial hypercholesterolemia].
    Author: Pang Q, Li M, Hu W, Chen Q, Li X, Fan L.
    Journal: Zhonghua Nei Ke Za Zhi; 2002 Oct; 41(10):667-70. PubMed ID: 12485531.
    Abstract:
    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.
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