Familial defective apolipoprotein B-100: Detection and haplotype analysis of the Arg3500→Gln mutation in hyperlipidemic Chinese

Yen Ni Teng, Ju Pin Pan, Shiu Ching Chou, Der Yan Tai, Guey Jen Lee-Chen*

*Corresponding author for this work

Research output: Contribution to journalArticlepeer-review

9 Citations (Scopus)


Familial defective apolipoprotein (apo) B-100 (FDB) is caused by R3500Q mutation of the apo B gene resulting in decreased binding of LDL to the LDL receptor. Two other apo B mutations, R3500W and R3531C, affecting binding are known to date. We screened the apo B gene segment around codon 3500 by heteroduplex analysis and single strand conformation polymorphism (SSCP) analysis in a total of 373 hyperlipidemic individuals. Two single-base mutations were detected and confirmed by DNA sequencing. One mutation, ACA3528→ACG change, resulted in degenerate codon with no amino acid substitution. The other mutation, CGG3500→CAG mutation, resulted in an Arg3500→Gln substitution (R3500Q). The prevalence of heterozygote in this selected population was 0.3% (95% confidence interval, 0.01-1.5%) for the R3500Q mutation, and 2.4% (95% confidence interval, 1.1-4.5%) for the previously described R3500W mutation. The results suggest that the R3500Q mutation is not a significant factor contributing to moderate hypercholesterolemia in Chinese (P=0.027). Family studies of the R3500Q carrier revealed a further two individuals heterozygous for the mutation, both of whom were hypercholesterolemic. Analysis of the R3500Q allele using six diallelic markers and the 3'HVR marker revealed a haplotype which was the same as that reported in a Chinese American but differed from that reported in a Chinese Canadian. Our data support limited multiple recurrent origins for R3500Q in Chinese population. Copyright (C) 2000 Elsevier Science Ireland Ltd.

Original languageEnglish
Pages (from-to)385-390
Number of pages6
Issue number2
Publication statusPublished - 2000 Oct


  • Familial defective apolipoprotein B-100
  • Haplotype
  • R3500Q mutation

ASJC Scopus subject areas

  • Cardiology and Cardiovascular Medicine


Dive into the research topics of 'Familial defective apolipoprotein B-100: Detection and haplotype analysis of the Arg3500→Gln mutation in hyperlipidemic Chinese'. Together they form a unique fingerprint.

Cite this