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Gln222Arg (A2317G) polymorphism in the deoxyribonuclease I gene exhibits ethnic and functional differences

  • Haruo Takeshita , Mikiko Soejima , Yoshiro Koda , Toshihiro Yasuda , Hisakazu Takatsuka and Junko Fujihara
Published/Copyright: December 5, 2008
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Clinical Chemistry and Laboratory Medicine
From the journal Clinical Chemistry and Laboratory Medicine Volume 47 Issue 1

Abstract

Background: The single nucleotide polymorphism (SNP) at deoxyribonuclease I (DNase I) in exon 8 (A2317G: Gln222Arg) has been shown to be associated with several diseases.

Methods: The allele frequency of the DNASE1 polymorphism in Chinese (Shenyang and Guangzhou in China), Uygurs (Urumqi), Tamils (Sri Lanka), and Tibetans (Katmandu in Nepal) was investigated, and the results were compared with those of other studies.

Results: This study revealed that DNASE1*1 is more common in Africans and DNASE1*2 is more common in Caucasians. Expression vectors of DNASE1*1 and DNASE1*2 were constructed and compared to the enzyme properties secreted into a medium from transfected COS-7 cells. The activity of the type-2 enzyme was significantly higher than that of the type-1 enzyme. In addition, the type-1 enzyme was heat-labile when compared to the type-2 enzyme. Moreover, the optimum pH of the DNase I type-2 enzyme was more acidic than that of DNase I type-1.

Conclusions: This study revealed that the distribution of Gln222Arg in the DNASE1 gene is different among ethnic groups and that the DNASE1 polymorphism appears to affect the specific activity, heat sensitivity, and optimum pH of the DNase I enzyme.

Clin Chem Lab Med 2009;47:51–5.

Keywords: deoxyribonuclease I (DNase I); DNASE1; ethnic; functional; polymorphism
Corresponding author: Haruo Takeshita, MD, PhD, Department of Legal Medicine, Shimane University School of Medicine 89-1 Enya, Izumo, Shimane 693-8501, Japan Phone: +81-853-20-2156; Fax: +81-853-20-2155,
Received: 2008-7-14
Accepted: 2008-9-15
Published Online: 2008-12-05
Published Online: 2008-12-5
Published in Print: 2009-01-01

©2009 by Walter de Gruyter Berlin New York

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https://doi.org/10.1515/CCLM.2009.002
Keywords for this article
deoxyribonuclease I (DNase I); DNASE1; ethnic; functional; polymorphism

Articles in the same Issue

  1. Reviews
  2. Molecular markers detecting circulating melanoma cells by reverse transcription polymerase chain reaction: methodological pitfalls and clinical relevance
  3. HIV-GB virus C co-infection: an overview
  4. Genetics and Molecular Diagnostics
  5. Relationships between C-reactive protein concentration and genotype in healthy volunteers
  6. SYBR Green-based real-time PCR assay for detection of VKORC1 and CYP2C9 polymorphisms that modulate warfarin dose requirement
  7. Functional polymorphisms in ACE and CYP11B2 genes and atrial fibrillation in patients with hypertensive heart disease
  8. No effect of MDR1 C3435T polymorphism on oral pharmacokinetics of telmisartan in 19 healthy Chinese male subjects
  9. A novel large deletion and three polymorphisms in the FECH gene associated with erythropoietic protoporphyria
  10. Aging and endothelial progenitor cell telomere length in healthy men
  11. Gln222Arg (A2317G) polymorphism in the deoxyribonuclease I gene exhibits ethnic and functional differences
  12. Mutation screening of the medium-chain acyl-CoA dehydrogenase (MCAD) and the ornithine transcarbamylase (OTC) genes by multiplex PCR amplification and sequencing
  13. General Clinical Chemistry and Laboratory Medicine
  14. Nitrated apolipoprotein A-I, a potential new cardiovascular marker, is markedly increased in low high-density lipoprotein cholesterol subjects
  15. Relationships of serum haptoglobin concentration with HbA1c and glycated albumin concentrations in Japanese type 2 diabetic patients
  16. Multi-elements (aluminium, copper, magnesium, manganese, selenium and zinc) determination in serum by dynamic reaction cell-inductively coupled plasma-mass spectrometry
  17. Urinary neutrophil gelatinase-associated lipocalin (NGAL) as an early marker of acute kidney injury in critically ill multiple trauma patients
  18. Validation and Outcome Studies
  19. Validation for quantification of immunoglobulins by Fourier transform infrared spectrometry
  20. Albumin-based or albumin-linked calibrators cause a positive bias in serum proteins assayed by the biuret method
  21. Current practices in antinuclear antibody testing: results from the Belgian External Quality Assessment Scheme
  22. Verification of the analytical range of a new reagent for full-range C-reactive protein determination
  23. Measurement uncertainty in manual differential leukocyte counting
  24. Letters to the Editor
  25. Falsely elevated carbohydrate antigen 19-9 level due to heterophilic antibody interference but not rheumatoid factor: a case report
  26. An unusual interference in parathormone assay caused by anti-goat IgG: a case report
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