title: Gln222Arg (A2317G) polymorphism in the deoxyribonuclease I gene exhibits ethnic and functional differences.
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.
authors.affiliation: Department of Legal Medicine, Shimane University School of Medicine, Izumo, Japan. htakeshi@med.shimane-u.ac.jp
authors.forename: Haruo
authors.initials: H
authors.lastname: Takeshita
authors.forename: Mikiko
authors.initials: M
authors.lastname: Soejima
authors.forename: Yoshiro
authors.initials: Y
authors.lastname: Koda
authors.forename: Toshihiro
authors.initials: T
authors.lastname: Yasuda
authors.forename: Hisakazu
authors.initials: H
authors.lastname: Takatsuka
authors.forename: Junko
authors.initials: J
authors.lastname: Fujihara
mesh_terms: D000818:Animals; D044466:Asian People / Q000235:genetics*; D019556:COS Cells; D002522:Chlorocebus aethiops; D003850:Deoxyribonuclease I / Q000096:biosynthesis / Q000235:genetics* / Q000378:metabolism; D005787:Gene Frequency; D005828:Genetics, Population; D006801:Humans; D006863:Hydrogen-Ion Concentration; D020641:Polymorphism, Single Nucleotide
chemical_list: D003850:Deoxyribonuclease I