title: The rearrangement of the human alpha(1)-acid glycoprotein/orosomucoid gene: evidence for tandemly triplicated genes consisting of two AGP1 and one AGP2.
abstract: The human alpha(1)-acid glycoprotein (AGP) or orosomucoid (ORM) is controlled by the two tandemly arranged genes, AGP1 and AGP2. The further duplication of the AGP1 gene has been suggested by a few duplicated ORM1 locus haplotypes including ORM1*F1. S and ORM1*B9. S, detected by isoelectric focusing. To clarify the triplication of the AGP gene, 39 DNA samples from Japanese subjects were studied by the long-range PCR of intergenic regions. The analysis of PCR products showed that the tandemly triplicated genes, AGP1A-AGP1B-AGP2, occurred on about 20% of chromosomes. These composites were divided into ORM1A*F1-ORM1B*S-ORM2*M and ORM1A*B9-ORM1B*S-ORM2*M by allelic variations. Furthermore, the former was classified into a few haplotypes by three synonymous sequence variations, which might have arisen through gene conversion-like events. The recombination breakpoints existed between the 5' flanking region and intron 2 of the AGP1B gene. Thus, it is likely that the rearrangement of the AGP gene has often occurred.
authors.affiliation: Department of Legal Medicine, Shimane Medical University, Izumo, 693-8501, Japan.
authors.forename: H
authors.initials: H
authors.lastname: Nakamura
authors.forename: I
authors.initials: I
authors.lastname: Yuasa
authors.forename: K
authors.initials: K
authors.lastname: Umetsu
authors.forename: M
authors.initials: M
authors.lastname: Nakagawa
authors.forename: E
authors.initials: E
authors.lastname: Nanba
authors.forename: K
authors.initials: K
authors.lastname: Kimura
mesh_terms: D005091:Exons / Q000235:genetics; D005784:Gene Amplification; D020440:Gene Duplication; D006801:Humans; D009961:Orosomucoid / Q000235:genetics*; D011110:Polymorphism, Genetic; D018807:Polymorphism, Single-Stranded Conformational; D011995:Recombination, Genetic; D020080:Tandem Repeat Sequences
chemical_list: D009961:Orosomucoid