刘汉芸，关　巍，白振忠，乌仁塔娜，冯喜英，李　贺

(1.青海大学医学院；2.青海大学附属医院呼吸科)

青海藏、汉族肺结核患者N-乙酰基转移酶2基因型比较*

刘汉芸1，关巍2**，白振忠1，乌仁塔娜1，冯喜英2，李贺1

(1.青海大学医学院；2.青海大学附属医院呼吸科)

摘要目的了解N-乙酰基转移酶2(NAT2)的基因型及其代谢表型在青海省藏、汉族肺结核患者之间的分布。方法采用实时荧光定量PCR Taqman探针法检测114例肺结核患者(年龄18～79岁，藏族69例，汉族45例) NAT2基因的重要单核苷酸多态性(SNP)位点基因型，并判定代谢表型，比较两个民族的基因型及代谢型是否存在差异。结果青海省藏、汉族肺结核患者NAT2基因 7个SNP位点基因型比较无显著性差异(P>0.05)。两个民族NAT2代谢型比较无显著性差异(P>0.05)。青海省藏、汉族肺结核患者NAT2的7个SNP位点基因型都以野生纯合型和杂合突变型为主。两个民族肺结核患者NAT2代谢型均以快代谢型和中间代谢型为主，其中藏族肺结核患者快代谢型、中间代谢型、慢代谢型频率分别为40.58%、49.28%、10.14%，汉族肺结核患者为51.11%、35.56%、13.33%。结论青海省藏、汉族肺结核患者的NAT2基因型和代谢型无显著性差异。

关键词NAT2肺结核藏族汉族

通信作者：刘汉芸(1987～)，女，汉族，青海籍，2012级科学班研究生.**教授，主任医师，博士，weiguan110@163.com

*：青海省(应用)基础研究计划项目(2013-Z-728)

中图分类号R521

文献标识码识码A

DOI：10.13452/j.cnki.jqmc.2015.02.003

AbstractObjectiveThe aim of this study was to observe the genotype and phenotype polymorphism of NAT2 in Tibetan and Han patients with tuberculosis in Qinghai province.Methods A total of 114(45 Hans and 69 Tibetans)patients with pulmonary tube rculosis in Qinghai province，aged from 18 years to 79 years，were enrolled in this study.Genotype was test by Taq Man probe real-time PCR method，and metabolic phenotypes were identified by genotype．Results There was no difference in the genotype and metabolism of NAT2 in Tibetan and Han with pulmonary tuberculosis.The mainly genotype of NAT2 was wild homozygous and heterozygous in Tibetan and Han with pulmonary tuberculosis patients.The main metabolic types were the fast metabolism and middle one in both Tibetan and Hans.The number of slow metabolic type was least.The rate of fast，middle and slow metabolic types was 40.58%，49.28% and 10.14%，respectively，in ethnic group of Tibetan. Whereas，the rate of fast，middle and slow metabolic types was 51.11%，35.56% and 13.33%，respectively，in group of Han.Conclusion There was no difference in genotype and metabolic type of NAT2 in Tibetan and Han patients with pulmonary tuberculosis.

KeywordsNAT2TBTibetanHan

收稿日期2014-12-12

COMPARISON OF NAT2 GENOTYPE IN TIBETAN AND HAN

PATIENTS WITH TUBERCULOSIS IN QINGHAI PROVINCE

Liu Hanyun1，Guan Wei2**，Bai Zhenzhong1，Wuren Tana1，Feng Xiying2，Li He1

(1.Qinghai University Medical College；

2.Department of Respiratory Medicine，the Affiliated Hospital of Qinghai University)

1990年Blum等[1]发现了NAT2基因，从1995年Bell等[2]首次发现了NAT2的基因多态性到现在，目前已发现的NAT2多态性位点达40个之多，每年不断有新的位点被发现。由于NAT2多态性存在种族及地区差异[3-4]，因此对少数民族的NAT2多态性位点进行研究尤为重要，查阅国内相关文献，已经有学者研究了部分少数民族的NAT2基因型。由于……