Human Genetics

, Volume 98, Issue 4, pp 415–418

Identification of the nucleotide substitution that generates the fourth polymorphic site in human deoxyribonuclease I (DNase I)

  • Reiko Iida
  • Toshihiro Yasuda
  • Haruo Takeshita
  • Etsuko Tsubota
  • Isao Yuasa
  • Tamiko Nakajima
  • K. Kishi
Original investigation

DOI: 10.1007/s004390050231

Cite this article as:
Iida, R., Yasuda, T., Takeshita, H. et al. Hum Genet (1996) 98: 415. doi:10.1007/s004390050231

Abstract

In addition to the three polymorphic sites responsible for protein polymorphism, a new polymorphic site has been identified in intron 7 of the human deoxyribonuclease I (DNase I) gene. Three phenotypes were observed on single-strand conformational polymorphism analysis of a 266-bp polymerase chain reaction-amplified fragment containing exon 7 and part of intron 7 of the human DNase I gene. DNA sequencing analysis demonstrated that a C-G substitution occurred at position 1978 in intron 7. This substitution was confirmed by restriction fragment length polymorphism analysis, since a new Msp1 site is created by the substitution. Population and family studies showed that the inheritance of the genotypes for DNase I C1978G polymorphism is controlled by two codominant alleles, tentatively designated DNASE1*1978C and *1978G. The gene frequencies in a Japanese population were significantly different from those in a Caucasian (German) population. The C1978G polymorphism is in linkage disequilibrium with the common DNase I protein phenotypes 1, 1–2, and 2.

Copyright information

© Springer-Verlag Berlin Heidelberg 1996

Authors and Affiliations

  • Reiko Iida
    • 1
  • Toshihiro Yasuda
    • 2
  • Haruo Takeshita
    • 1
  • Etsuko Tsubota
    • 1
  • Isao Yuasa
    • 3
  • Tamiko Nakajima
    • 2
  • K. Kishi
    • 2
  1. 1.Department of Legal Medicine, Fukui Medical School, Matsuoka-cho, Fukui, 910–11 JapanJP
  2. 2.Department of Legal Medicine, Gunma University School of Medicine, Showa-machi 3-39-22, Maebashi-shi, Gunma, 371 Japan Fax: +81-272-20-8035JP
  3. 3.Department of Legal Medicine, Tottori University Faculty of Medicine, 86 Nishi-machi, Yonago-shi, Tottori, 683 JapanJP

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