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

作者：Takeshita Haruo^*; Soejima Mikiko; Koda Yoshiro; Yasuda Toshihiro; Takatsuka Hisakazu; Fujihara Junko

来源：Clinical Chemistry and Laboratory Medicine, 2009, 47(1): 51-55.

DOI：10.1515/CCLM.2009.002

• deoxyribonuclease I (DNase I)
• DNASE1
• ethnic
• functional
• polymorphism

Backgrond: 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 type1 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.

• 出版日期2009-1