Orosomucoid (ORM) typing by isoelectric focusing: evidence for gene duplication of ORM1 and genetic polymorphism of ORM2 |
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| Authors: | I. Yuasa K. Suenaga K. Umetsu K. Ito M. Robinet-Levy |
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| Affiliation: | (1) Department of Legal Medicine, Tottori University School of Medicine, 683 Yonago, Japan;(2) Yamaguchi Red Cross Hospital, 753 Yamaguchi, Japan;(3) Blood Center, 753 Yamaguchi, Japan;(4) Department of Forensic Medicine, Yamagata University School of Medicine, 990-23 Yamagata, Japan;(5) Institut d'Hématologie, Centre de Transfusion Sanguine, F-34010 Montpellier, France |
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| Abstract: | ![]()
Summary It has been demonstrated that the genetic polymorphism of human serum orosomucoid (ORM) is controlled by polymorphic ORM1 and monomorphic ORM2 loci. In this study a Japanese family was encountered in which several members had puzzling electrophoretic patterns consisting of four bands. The ORM patterns were due to the products of a duplicated ORM1 locus haplotype (ORM1 * 2·1) or the products of new variant alleles at the ORM2 locus. The ORM1 * 2·1 haplotype is very common in the Japanese population, occurring at an allele frequency of 0.16. The increased occurrence of ORM1 2-1 and the heterogeneity in band intensity among ORM1 2-1 phenotypes could be explained in terms of a duplicated gene ORM1 * 2·1. The ORM2 locus proved to be polymorphic, with six alleles in the Japanese population. Dedicated to Professor Dr. K. Nishigami on the occasion of his 60th birthday |
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