Analysis of low density lipoprotein receptor function and gene mutation in familial hypercholesterolemic patients.
- Author:
Xiaoxiang GUAN
1
;
Mingfang LI
;
Leming FAN
;
Qi CHEN
Author Information
- Publication Type:Journal Article
- MeSH: Adult; Base Sequence; Child; Child, Preschool; China; Cholesterol; blood; Cholesterol, HDL; blood; DNA; chemistry; genetics; DNA Mutational Analysis; Family Health; Female; Flow Cytometry; Genotype; Humans; Hyperlipoproteinemia Type II; blood; genetics; Lipoproteins, HDL; blood; Male; Molecular Sequence Data; Mutation; Pedigree; Phenotype; Polymorphism, Single-Stranded Conformational; Receptors, LDL; genetics; metabolism; Triglycerides; blood
- From: Chinese Journal of Medical Genetics 2003;20(2):138-142
- CountryChina
- Language:Chinese
-
Abstract:
OBJECTIVETo investigate low density lipoprotein receptor (LDLR) function and gene mutation in Chinese patients with familial hypercholesterolemia(FH).
METHODSLymphocytes 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.
RESULTSDefects 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.
CONCLUSIONA novel mutation of LDL receptor gene was detected by the combination of FCM and PCR-SSCP methods.
