title: Human beta 2-glycoprotein I: molecular analysis of DNA and amino acid polymorphism.
abstract: 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 beta 2-glycoprotein I (beta 2-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 Humain family panel and was found to be 0.76 for valine and 0.23 for leucine. The Val-Leu polymorphism described in this study does not correlate with the four isoelectric focusing alleles previously described, indicating that other variants are responsible for this polymorphism.
authors.affiliation: MRC Immunochemistry Unit, University of Oxford, UK.
authors.forename: A
authors.initials: A
authors.lastname: Steinkasserer
authors.forename: C
authors.initials: C
authors.lastname: Dörner
authors.forename: R
authors.initials: R
authors.lastname: Würzner
authors.forename: R B
authors.initials: RB
authors.lastname: Sim
mesh_terms: D000483:Alleles; D001053:Apolipoproteins / Q000235:genetics*; D001483:Base Sequence; D015139:Blotting, Southern; D002886:Chromosomes, Human, Pair 17; D004277:DNA, Single-Stranded / Q000032:analysis; D015252:Deoxyribonucleases, Type II Site-Specific; D005787:Gene Frequency; D006023:Glycoproteins / Q000235:genetics*; D006801:Humans; D007525:Isoelectric Focusing; D007930:Leucine / Q000235:genetics*; D008969:Molecular Sequence Data; D016133:Polymerase Chain Reaction; D012150:Polymorphism, Restriction Fragment Length; D017422:Sequence Analysis, DNA; D014633:Valine / Q000235:genetics*; D053482:beta 2-Glycoprotein I
chemical_list: D001053:Apolipoproteins; D004277:DNA, Single-Stranded; D006023:Glycoproteins; D053482:beta 2-Glycoprotein I; D015252:Deoxyribonucleases, Type II Site-Specific; C040158:GTAC-specific type II deoxyribonucleases; D007930:Leucine; D014633:Valine