155例汉族结核病患者N-乙酰基转移酶2(NAT2)基因多态性分析  

An analysis on N-acetytransferase 2 genetic polymorphisms in 155 Hans Chinese patients with tuberculosis

作　　者：李昕洁[1] 王云南[1] 邹永红[1] 何刚[1] 尹小毛[1] 张言斌[1] 苏雯婕[2] 刘志辉[1] 

机构地区：[1]广州市胸科医院,广州510095 [2]广州医学院,广州510180

出　　处：《中国防痨杂志》2011年第6期357-360,共4页Chinese Journal of Antituberculosis

基　　金：广东省科技计划项目(2008B030301265)

摘　　要：目的探讨中国汉族结核病患者N-乙酰基转移酶2(NAT2)基因分布特征。方法应用PCR-DNA测序技术测定外周血淋巴细胞基因组NAT2基因的特定序列,分析常见位点的单核苷酸突变,并与文献报道的中国其他地区健康人群NAT2基因多态性进行比较。结果对155例汉族结核病患者NAT2基因的特定序列进行了测定,NAT2等位基因频率分别为:NAT2*4(50.7%),NAT2*5A(0.6%),NAT2*5B(4.8%),NAT2*5C(1.0%),NAT2*6(28.7%),NAT2*7(14.2%);共检测到NAT2*4/4、NAT2*4/5A、NAT2*4/5B、NAT2*4/5C、NAT2*4/6、NAT2*4/7、NAT2*5B/6、NAT2*5B/7、NAT2*6/6、NAT2*6/7、NAT2*7/7 11种基因型,根据基因表型的代谢速度将其分为快型(NAT2*4/4)、中间型(NAT2*4/5A、NAT2*4/5B、NAT2*4/5C、NAT2*4/6、NAT2*4/7)、慢型(NAT2*5B/6、NAT2*5B/7、NAT2*6/6、NAT2*6/7、NAT2*7/7)3类,出现频率分别为:23.2%,54.9%(1.3%,3.2%,1.9%,34.9%,13.6%),21.9%(1.9%,4.5%,5.8%,9.0%,0.6%);结核病患者与健康人群间的代谢速度分型频率差异有统计学意义(2χ=11.93,P<0.01)。结论中国汉族结核病患者NAT2的基因表型以中间型为主要存在形式(占54.9%),NAT2的基因型分布可能与结核病易感性有关。Objective To determine the distribution of N-acetyltransferase 2（NAT2） genetic polymorphisms in Chinese Hans TB patients. Methods The specific gene sequence of NAT2 from peripheral blood lymphocytes were detected by PCR-DNA sequencing technique and the common sites of single nucleotide polymorphism were analysed.These results were compared with the data of healthy population reported in other articles. Results Of 155 Chinese Hans TB patients,the alleles genetic frequencies of NAT2＊4,NAT2＊5A,NAT2＊5B,NAT2＊5C,NAT2＊6,and NAT2＊7 were 50.7%,0.6%,4.8%,1.0%,28.7% and 14.2% respectively.11 genotypes as follow were detected： NAT2＊4/4,NAT2＊4/5A,NAT2＊4/5B,NAT2＊4/5C,NAT2＊4/6,NAT2＊4/7,NAT2＊5B/6,NAT2＊5B/7,NAT2＊6/6,NAT2＊6/7 and NAT2＊7/7.According to the metabolic phenotype,these genotypes were divided into fast type（NAT2＊4/4）,intermediate type（NAT2＊4/5A,NAT2＊4/5B,NAT2＊4/5C,NAT2＊4/6,NAT2＊4/7） and slow type（NAT2＊5B/6,NAT2＊5B/7,NAT2＊6/6,NAT2＊6/7,NAT2＊7/7）.And their frequencies were 23.2%,54.9%（1.3%,3.2%,1.9%,34.9%,13.6%）,and 21.9%（1.9%,4.5%,5.8%,9.0%,0.6%）,respectively.There are significant difference in the phenotype distribution between TB patients and healthy population（χ2=11.93,P0.01）. Conclusions The intermediate type of NAT2 genotype in Chinese Hans TB patients was main form,and NAT2 genotype distribution may be associated with TB susceptibility.

关 键 词：结核/酶学 芳基胺N-2酰转移酶 多肽现象 遗传 汉族 

分 类 号：R52[医药卫生—内科学]