中国汉族人三磷酸肌苷焦磷酸酶活性的分布

中国临床药理学与治疗学 ›› 2009, Vol. 14 ›› Issue (4): 426-431.

中国汉族人三磷酸肌苷焦磷酸酶活性的分布

李维亮, 辛华雯, 吴笑春, 李罄, 熊磊

广州军区武汉总医院临床药理科, 武汉430070, 湖北

收稿日期:2008-11-21 修回日期:2009-03-17 发布日期:2020-10-29
通讯作者: 辛华雯,女,主任医师,主要从事临床药理研究。Tel:027-68878690 E-mail:huawenxin@163.com
作者简介:李维亮,女,药师,主要从事临床药理研究。Tel:027-68878689 E-mail:liweiliango@sohu.com
基金资助:
全军科学技术研究“十一五”计划课题(06MA131)

Distribution of inosine triphosphate pyrophosphohydrolase activity in Han Chinese

LI Wei-liang, XING Hua-wen, WU Xiao-chun, LI Qing, XIONG Lei

Department of Clinical Pharmacology, Wuhan General Hospital of Guangzhou Command, Wuhan 430070, Hubei, China

Received:2008-11-21 Revised:2009-03-17 Published:2020-10-29

摘要/Abstract

摘要： 目的: 研究三磷酸肌苷焦磷酸酶(ITPA)活性在中国汉族人中的分布。方法: 运用HPLC 法测定402 名健康汉族人红细胞的ITPA 活性。结果: 不同性别、不同血型汉族人的红细胞ITPA 活性均值差异无统计学意义(P>0.05),其ITPA 活性呈双峰分布,活性缺乏率为27.6 %。此外发现6 例ITPA 活性缺乏者,占研究总人数的1.47 %。结论: 中国汉族人红细胞ITPA 活性呈双峰分布。

关键词: 三磷酸肌苷焦磷酸酶, 汉族, 活性

Abstract: AIM: To study the distribution of inosine triphosphate pyrophosphatase (ITPA) activity in Han Chinese.METHODS: The erythrocyte ITPA activity was detected in healthy Han Chinese by HPLC assay (n=402).RESULTS: There was no significant difference in the mean ITPA activity between male and female of Han Chinese or among different blood types(P>0.05) , a bimodal distribution of ITPA activity was found and the frequency of the ITPA deficiency was 27.6 % in Han Chinese.Furthermore, 6cases with ITPA activity deficiency were found, accounting for 1.47 % of total healthy recipients.CONCLUSION: The distribution of erythrocyte ITPA activity shows a bimodal distribution in Han Chinese.

Key words: inosine triphosphate pyrophosphatase, Han Chinese, activity

中图分类号:

R969

李维亮, 辛华雯, 吴笑春, 李罄, 熊磊. 中国汉族人三磷酸肌苷焦磷酸酶活性的分布[J]. 中国临床药理学与治疗学, 2009, 14(4): 426-431.

LI Wei-liang, XING Hua-wen, WU Xiao-chun, LI Qing, XIONG Lei. Distribution of inosine triphosphate pyrophosphohydrolase activity in Han Chinese[J]. Chinese Journal of Clinical Pharmacology and Therapeutics, 2009, 14(4): 426-431.

参考文献

[1] Shipkova M, Lorenz K, Oellerich M, et al. Measurement of erythrocyte inosine triphosphate pyrophospho hydrolase (ITPA)activity by HPLC and correlation of ITPA genotype-phenotype in a caucasian population[J].Clin Chem,2006, 52(2):140-147.
[2] Mascheretti S, Schreiber S.Genetic testing in crohn disease:utility in individualizing patient management[J].Am J Pharmacogenom, 2005, 5(4):213-222.
[3] Gearry RB, Barclay ML. Azathioprine and 6-mercaptopurine pharmacogenetics and metabolite monitoring in inflammatory bowel disease[J].J Gastroenterol Hepatol, 2005,20(8):1149-1157.
[4] Mcleod HL, Pritchard SC, Githang'a J, et al. Ethnic differences in thiopurine methyltransferase pharmacogenetics: evidence for allele specificity in Caucasian and Kenyan individuals[J].Pharmcogenetics, 1999, 9(6):773-776.
[5] Collie-Duguid ES, Pritchard SC, Powrie RH, et al. The frequency and distribution of thiopurine methyltransferase allele in Caucasian and Asian populations[J].Pharmcogenetics,1999, 9(1):37-42.
[6] Weinshilboum R. Thiopurine pharmacogenetics: clinical and molecular studies of thiopurine methy ltransferase[J].Drug Metab Dispos, 2001, 29(4):601-605.
[7] 熊晖, 辛华雯, 熊磊, 等.肾移植受者红细胞ITPA活性与硫唑嘌呤不良反应关系的研究[J].中国药理学通报, 2008, 24(11):1495-1500.
[8] Marinaki AM, Ansari A, Duley JA, et al.Adverse drug reactions to azathioprine therapy are associated with polymorphism in the gene encoding inosine triphosphate pyrophosphatase(ITPA)[J].Pharmacogenetics, 2004, 14(3):181-187.
[9] Marsh S, King CR, Ahluwalia R, et al.Distribution of ITPA P32T alleles in multiple world populations[J].J Hum Genet, 2004, 49(10):579-581.
[10] Duley JA, Marinaki AM, Arenas M, et al.Do ITPA and TPMT genotypes predict the development of side effects toAZA[J] ? Gut, 2006, 55(7):1048.
[11] Vanderheiden BS.Genetic studies of human erythrocyte inosine triphosphatase[J]. Biochem Genet, 1969, 3(6):289-297.
[12] Soder C, Henderson JF, Zombor G, et al.Relationships between nucleoside triphosphate pyrophosphohydrolase activity and inosine triphosphate accumulation in human erythrocytes[J].Can J Biochem, 1976, 54 (10):843-847.
[13] Holmes SL, Turner BM, Hirschhorn K.Human inosine triphosphatase: catalytic properties and population studies [J].Clin Chim Acta, 1979, 97(2):143-153.
[14] Van Waeg G, Niklasson F, Ericson A, et al.Purine metabolism in normal and ITP-pyrophosphohydrolase-deficient human erythrocytes[J].Clin Chim Acta, 1988, 171(2):279-292.
[15] Duley JA, Simmonds HA, Hopkinson DA, et al.Inosine triphosphate pyrophosphohydrolase deficiency in a kindred with adenosine deaminase deficiency[J].Clin Chim Acta,1990, 188(3):243-252.
[16] Sumi S, Marinaki AM, Arenas M, et al.Genetic basis of inosine triphosphate pyrophosphohydrolase deficiency[J].Hum Genet, 2002, 111(4):360-367.
[17] Maeda T, Sumi S, Ueta A, et al.Genetic basis of inosine triphosphate pyrophosphohydrolase deficiency in the Japanese population[J].Mol GenetMetab, 2005, 85(4):271-276.
[18] Heller T, OellerichM, Armstrong VW, et al.Rapid Detection of ITPA 94C>A and IVS2 +21A>C Gene Mutations by Real-Time Fluorescence PCR and in Vitro Demonstration of Effect of ITPA IVS2+21A>C Polymorphism on Splicing Efficiency[J].Clin Chem, 2004, 50(11):2182-2184.
[19] Marinaki AM, Sumi S, ArenasM, et al.Allele frequency of inosine triphosphate pyrophosphatase gene polymorphisms in a Japanese population[J].Nucleosides Nucleotides Nucleic Acids, 2004, 23(8 9):1399-1401.