title: [Analysis of low density lipoprotein receptor function and gene mutation in familial hypercholesterolemic patients].
abstract: OBJECTIVE
  To investigate low density lipoprotein receptor (LDLR) function and gene mutation in Chinese patients with familial hypercholesterolemia(FH).
  
  
  METHODS
  Lymphocytes were isolated from 10 ml anticoagulated peripheral blood of the patients, then a flow-cytometric method (FCM) with 1,1'-dioctadecyl-3,3,3', 3-tetramethylindocarbocyanine perchlorate labelled low density lipoproetin (DiI-LDL) was used to identify the function of LDLR on the surface of lymphocytes. Genomic DNA was isolated from whole blood of FH patients and analyzed by PCR-single strand conformation polymorphism (SSCP) and nucleotide sequencing methods.
  
  
  RESULTS
  Defects of binding and uptaking of LDLR were identified by FCM in 2 FH patients in one family, and their parents were examined in the present study. Then they were analyzed genetically. The detected mutation was a deletion of A, which caused a frame shift in codon 297 of exon 6 and introduced a beforehand stop codon in codon 369.
  
  
  CONCLUSIONS
  A novel mutation of LDL receptor gene was detected by the combination of FCM and PCR-SSCP methods.
authors.affiliation: Atherosclerosis Research Center, Nanjing Medical University, Nanjing, Jiangsu, 210029 P. R. China. lmfan@njmu.edu.cn
authors.forename: Xiaoxiang
authors.initials: X
authors.lastname: Guan
authors.forename: Mingfang
authors.initials: M
authors.lastname: Li
authors.forename: Leming
authors.initials: L
authors.lastname: Fan
authors.forename: Qi
authors.initials: Q
authors.lastname: Chen
mesh_terms: D000328:Adult; D001483:Base Sequence; D002648:Child; D002675:Child, Preschool; D002681:China; D002784:Cholesterol / Q000097:blood; D008076:Cholesterol, HDL / Q000097:blood; D004247:DNA / Q000737:chemistry / Q000235:genetics; D004252:DNA Mutational Analysis; D005192:Family Health; D005260:Female; D005434:Flow Cytometry; D005838:Genotype; D006801:Humans; D006938:Hyperlipoproteinemia Type II / Q000097:blood / Q000235:genetics*; D008075:Lipoproteins, HDL / Q000097:blood; D008297:Male; D008969:Molecular Sequence Data; D009154:Mutation; D010375:Pedigree; D010641:Phenotype; D018807:Polymorphism, Single-Stranded Conformational; D011973:Receptors, LDL / Q000235:genetics* / Q000378:metabolism; D014280:Triglycerides / Q000097:blood
chemical_list: D008076:Cholesterol, HDL; D008075:Lipoproteins, HDL; D011973:Receptors, LDL; D014280:Triglycerides; D004247:DNA; D002784:Cholesterol