Catherine M. Owczarek¹, Aleksander L. Owczarek² and Philip G. Board³

¹Centre for Functional Genomics and Human Disease, Monash

Institute of Reproduction and Development, Monash University, Melbourne, Victoria 3168, Australia

²Department of Mathematics and Statistics, University of Melbourne, Parkville, Australia

³Molecular Genetics Group, John Curtin School of Medical Research, Canberra ACT 2601, Australia

Corresponding author: C.M. Owczarek

E-mail: catherine.owczarek@med.monash.edu.au

Genet. Mol. Res. 1 (1): 96-105 (2002)

Received February 28, 2002

Published March 28, 2002

ABSTRACT. Human a₁-acid glycoprotein (AGP) or orosomucoid (ORM) is a major acute phase protein that is thought to play a crucial role in maintaining homeostasis. Human AGP is the product of a cluster of at least two adjacent genes located on HSA chromosome 9. Using a range of restriction endonucleases we have investigated DNA variation at the locus encoding the AGP genes in a group of healthy Caucasians. Polymorphisms were identified using BamHI, EcoRI, BglII, PvuII, HindIII, TaqI and MspI. Nonrandom associations were found between the BamHI, EcoRI and BglII RFLPs. The RFLPs detected with PvuII, TaqI and MspI were all located in exon 6 of both AGP genes. The duplication of an AGP gene was observed in 11% of the individuals studied and was in linkage disequilibrium with the TaqI RFLP. The identification and characterization of these polymorphisms should prove useful for other population and forensic studies.

Key words: Human a₁-acid glycoprotein, RFLP, Linkage disequilibrium