Characterization of one novel mutation of the low density lipoprotein receptor gene in patients with familial hypercholesterolemia-one case report
- VernacularTitle:家族性高胆固醇血症低密度脂蛋白受体基因新突变位点的鉴定——附1例报告
- Author:
Yanfei WANG
;
Hongfang JIN
;
Dingfang BU
;
Yanling YANG
;
Junbao DU
- Publication Type:Journal Article
- Keywords:
familial hypercholesterolemia;
low density lipoprotein receptor;
gene mutation
- From:
Chinese Journal of Practical Internal Medicine
2001;0(06):-
- CountryChina
- Language:Chinese
-
Abstract:
Objective To analyze the genetic variation of low density lipoprotein receptor(LDLR)gene in patients with familial hypercholesterolemia(FH).Methods Polymerase chain reaction(PCR)was used to amplify the promoter region and the 18 exons of LDLR gene family with the patients' genomic DNA as templates.DNA sequencing of the PCR production was used to find mutations in patients with FH.Results A novel missense mutation(G→T)in exon 4 was identified by DNA sequencing in the proband and his mother,and the mutation was characterized at nucleotide site of 385 in exons of coding region,with tyrosine substitute for aspartate at amino acid site of 108.Conclusion Characterization of the novel mutation provides an example of the genetic basis of LDLR causing FH.
