Human Genetics

, Volume 99, Issue 3, pp 393–398

Human orosomucoid polymorphism: molecular basis of the three common ORM1 alleles, ORM1*F1, ORM1*F2, and ORM1*S

  • I. Yuasa
  • Kazuo Umetsu
  • Ulrike Vogt
  • Hiroaki Nakamura
  • Eiji Nanba
  • Nobuto Tamaki
  • Yoshito Irizawa
Original investigation

DOI: 10.1007/s004390050378

Cite this article as:
Yuasa, I., Umetsu, K., Vogt, U. et al. Hum Genet (1997) 99: 393. doi:10.1007/s004390050378

Abstract

The human orosomucoid (ORM) is controlled by two closely linked loci, ORM1 and ORM2, and two tandem genes, AGP1 and AGP2, encoding the proteins produced by the two loci, have been cloned. In this study the molecular basis of ORM1 polymorphism was investigated. For the detection of mutations the products of the six exons of each gene, amplified by the polymerase chain reaction (PCR), were screened by single-strand conformation polymorphism analysis. Subsequently, the exons with an altered migration pattern were gene-specifically amplified by nested PCR. Sequencing of the gene-specific PCR products showed that the three common ORM1 alleles result from A→G transitions at the codons for amino acid positions 20 in exon 1 and 156 in exon 5 of the AGP1 gene: ORM1*F1 was characterized by CAG (Gln) and GTG (Val), ORM1*F2, by CAG (Gln) and ATG (Met), and ORM1*S, by CGG (Arg) and GTG (Val). The phylogenesis of the genes encoding these three ORM1 alleles is discussed.

Copyright information

© Springer-Verlag Berlin Heidelberg 1997

Authors and Affiliations

  • I. Yuasa
    • 1
  • Kazuo Umetsu
    • 2
  • Ulrike Vogt
    • 3
  • Hiroaki Nakamura
    • 4
  • Eiji Nanba
    • 5
  • Nobuto Tamaki
    • 1
  • Yoshito Irizawa
    • 1
  1. 1.Department of Legal Medicine, Tottori University School of Medicine, Yonago, 683 Japan Tel.: +81-859-34-8030; Fax: +81-859-34-8076; e-mail: yuasai@grape.med.tottori-u.ac.jpJP
  2. 2.Department of Forensic Medicine, Yamagata University School of Medicine, Yamagata, 990–23 JapanJP
  3. 3.Blood Transfusion Center of the Bavarian Red Cross, Institute Munich, D-80336 Munich, GermanyDE
  4. 4.Department of Legal Medicine, Shimane Medical University, Izumo, 693 JapanJP
  5. 5.Gene Research Center, Tottori University, Yonago, 683 JapanJP

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