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.