[A 3-amino acid deletion of apolipoprotein E found in 3 Chinese lipoprotein glomerulopathy patients]

Zhonghua Yi Xue Za Zhi. 2003 May 10;83(9):774-7.
[Article in Chinese]

Abstract

Objective: To analyze the mutation of apolipoprotein E (apoE) gene so as to investigate the pathogenesis of lipoprotein glomerulopathy (LPG).

Methods: Restriction fragment length polymorphism methods was used to analyze the apoE genotypes of three Chinese patients with LPG and 3 of their relatives. Automated DNA sequencing was performed upon their apoE genes.

Results: A 9-bp deletion in exon 4 of apoE, resulting in a 3-amino acid deletion (residues 142-144-0) was identified.

Conclusion: A 3-amino acid deletion of apoE has been discovered which is associated with LPG.

Publication types

  • English Abstract
  • Research Support, Non-U.S. Gov't

MeSH terms

  • Adolescent
  • Adult
  • Amino Acid Sequence
  • Apolipoproteins E / genetics*
  • Apolipoproteins E / metabolism
  • Base Sequence
  • Female
  • Humans
  • Kidney Diseases / genetics*
  • Kidney Diseases / metabolism
  • Kidney Glomerulus / metabolism
  • Male
  • Molecular Sequence Data
  • Pedigree
  • Phenotype
  • Polymorphism, Restriction Fragment Length
  • Sequence Analysis, DNA
  • Sequence Deletion*

Substances

  • Apolipoproteins E