Human β2-glycoprotein I: molecular analysis of DNA and amino acid polymorphism

@article{Steinkasserer2004HumanI,
  title={Human β2-glycoprotein I: molecular analysis of DNA and amino acid polymorphism},
  author={Alexander Steinkasserer and Christa Doerner and Reinhard Wuerzner and Robert B Sim},
  journal={Human Genetics},
  year={2004},
  volume={91},
  pages={401-402}
}
In this study, we describe a two-allelic RsaI restriction fragment length polymorphism identified by Southern blot analysis and by allele-specific polymerase chain reaction amplification for the human β2-glycoprotein I (β2-I; apolipoprotein H=APOH) gene. This polymorphism, which segregates in a co-dominant fashion, leads to a valine-leucine amino acid exchange at amino acid position 247. The allele frequency has been established in 34 unrelated parents of the Centre d'Etude du Polymorphisme… CONTINUE READING

Similar Papers

Loading similar papers…