Article
Human beta 2-glycoprotein I: molecular analysis of DNA and amino acid polymorphism.
Human genetics - 1 May 1993
Steinkasserer A, Dörner C, Würzner R, Sim R B
Abstract excerpt
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...
Topics
- Alleles
- Apolipoproteins
- Base Sequence
- Blotting, Southern
- Chromosomes, Human, Pair 17
- DNA, Single-Stranded
- Deoxyribonucleases, Type II Site-Specific
- Gene Frequency
- Glycoproteins
- Humans
- Isoelectric Focusing