Human Genetics

, Volume 99, Issue 1, pp 18–21

Molecular evidence for human alpha2-HS glycoprotein (AHSG) polymorphism

  • M. Osawa
  • Kazuo Umetsu
  • Tamotsu Ohki
  • Toshio Nagasawa
  • Tsuneo Suzuki
  • Sanae Takeichi
Original investigation

DOI: 10.1007/s004390050302

Cite this article as:
Osawa, M., Umetsu, K., Ohki, T. et al. Hum Genet (1996) 99: 18. doi:10.1007/s004390050302

Abstract

Alpha2-HS glycoprotein (AHSG) is a human plasma glycoprotein that exhibits genetic polymorphism on isoelectric focusing (IEF). To identify the origin of two common alleles, AHSG*1 and *2, we examined nucleotide exchanges in the gene. AHSG cDNA was obtained by RT-PCR from poly(A) RNA of seven liver tissue samples and subcloned into a plasmid vector. After sequencing, we found six single nucleotide differences in comparison with the originally reported sequence. In particular, the nucleotide substitutions of C to T at amino acid position 230 and C to G at position 238 were common among the samples exhibiting phenotype 2–1 or 2. Since these substitutions might give rise to a NlaIII site and a SacI site, respectively, for the potential AHSG*2, we analyzed these substitutions by PCR-RFLP using genomic DNA of 68 individuals. The result was consistent with the IEF analysis of the corresponding serum, indicating that AHSG*1 was characterized by ACG (Thr) at position 230 in exon 6 and ACC (Thr) at position 238 in exon 7, and that AHSG*2 was characterized by ATG (Met) at position 230 and AGC (Ser) at position 238.

Copyright information

© Springer-Verlag Berlin Heidelberg 1996

Authors and Affiliations

  • M. Osawa
    • 1
  • Kazuo Umetsu
    • 2
  • Tamotsu Ohki
    • 1
  • Toshio Nagasawa
    • 1
  • Tsuneo Suzuki
    • 2
  • Sanae Takeichi
    • 1
  1. 1.Tokai University School of Medicine, Department of Forensic Medicine, Boseidai, Isehara, Kanagawa 259-11, Japan Tel.: +81 463 931121 ext. 2630; Fax: +81 463 920284 e-mail: osawa@is.icc.u-tokai.ac.jpJP
  2. 2.Department of Forensic Medicine, Yamagata University School of Medicine, Yamagata 990-23, JapanJP