title: [Relationship between changes in activities of low density lipoprotein receptor and gene mutation in familial hypercholesterolemia].
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.
  
  
  CONCLUSIONS
  A novel mutation of LDLR gene was reported. This mutation may severely affect the function of LDLR.
authors.affiliation: Atherosclerosis Research Center, Nanjing Medical University Nanjing, 210029 China. lmfan@njmu.edu.cn
authors.forename: Qingfeng
authors.initials: Q
authors.lastname: Pang
authors.forename: Mingfang
authors.initials: M
authors.lastname: Li
authors.forename: Weicheng
authors.initials: W
authors.lastname: Hu
authors.forename: Qi
authors.initials: Q
authors.lastname: Chen
authors.forename: Xiaoyu
authors.initials: X
authors.lastname: Li
authors.forename: Leming
authors.initials: L
authors.lastname: Fan
mesh_terms: D002648:Child; D004252:DNA Mutational Analysis; D005260:Female; D016368:Frameshift Mutation; D006579:Heterozygote; D006801:Humans; D006938:Hyperlipoproteinemia Type II / Q000235:genetics*; D008077:Lipoproteins, LDL / Q000378:metabolism*; D008297:Male; D010375:Pedigree; D016133:Polymerase Chain Reaction; D018807:Polymorphism, Single-Stranded Conformational; D011973:Receptors, LDL / Q000235:genetics* / Q000378:metabolism
chemical_list: D008077:Lipoproteins, LDL; D011973:Receptors, LDL