新疆维吾尔族及汉族溃疡性结肠炎患者岩藻糖基转移酶2基因多态性差异初探  

Preliminary study on the differences of fucosyltransferase 2 gene polymorphism between Uyghur and Han patients with ulcerative colitis Ayinuer

作　　者：阿依努尔·阿合曼[1] 高峰[1] 刘兴[1] 艾合买江·库尔班江[1] 黄晓玲[1] 李莉[1] 木尼拉·买买提[1] 赫晓磊[1] 

机构地区：[1]新疆维吾尔自治区人民医院消化科,乌鲁木齐830001

出　　处：《中华消化杂志》2013年第7期470-473,共4页Chinese Journal of Digestion

基　　金：国家自然科学基金（30871148）

摘　　要：目的初步评估新疆维吾尔自治区汉族及维吾尔族UC患者的岩藻糖基转移酶2（FUT2）基因多态性的差异。方法纳入120例UC患者，其中汉族64例，维吾尔族56例，另有320名年龄、性别、民族相匹配的健康对照者。提取所有受试者的DNA，采用PCR扩增并测序，以确定F1，T2基因C357T、A385T、G428A、G739A的多态性，采用卡方检验比较汉族及维吾尔族UC患者与健康对照者的基因频率。结果C357T变异在汉族UC患者中的基因频率为CC0、CT 11．3％、TT88．7％，在相应的健康对照者中为CC5．5％、CT26．1％、TT68．4％（X^2=9．091，P=0．011）。A385T变异在维吾尔族UC患者中的基因频率为AA87．8％、AT8．2％、TT4．0％，在相n应的健康对照者中为AA59．7％、AT33．6％、TT6．7％（X^2=13．480，P=0．010）。G428A变异在汉族UC患者中的基因频率为GG98．1％、AG1．9％、AA0，在相应的健康对照者中为GG83．9％、nAG14．3％、AA1．8％（）[。=7．382，P=0．025）；C-428A变异在维吾尔族UC患者中的基因频率为GG69．4％、AG18．4％、AA12．2％，在相应的健康对照者中为GG35．6％、AG51．0％、AA13．4％。（X^2=18．790，P〈0．01）。G739A变异在汉族及维吾尔族Uc患者与相应的健康对照者中的基因频率差异均无统计学意义（P均〉0．05）。结论FuT2基因多态性与UC相关，其中在汉族人群中C357T、G428A与UC相关，在维吾尔族人群中A385T、G428A与UC相关，表明FuT2基因在新疆地区UC发病中可能起潜在作用。Objective To preliminarily evaluate the differences of fucosyltransferase 2 （FUT2） gene polymorphism between Han and Uyghur patients with ulcerative colitis （UC） in Xinjiang Uyghur Autonomous Region. Methods A total of 120 UC patients were enrolled, of whom 64 patients were Han and 56 patients were Uyghur. And there were another 320 healthy controls with matched age, gender and nationality. The DNA of subjects was extracted and the polymorphism of gene FUT2 at C357T, A385T, G428A, and G739A was detected by polymerase chain reaction （PCR） and gene sequencing. The chi-square test was performed to compare gene allele frequencies between Han, Uyghur UC patients and healthy controls. Results The gene frequencies of CC, CT, and TT in C357T mutation of Han UC patients were 0, 11.3% and 88.7%, respectively, while in the corresponding healthy controls were 5.5%, 26.1% and 68.4%, respectively （X^2= 9. 091, P= 0. 011）. The gene frequencies of AA, AT and TT in A385T mutation of Uyghur UC patients were 87.8%, 8.2% and 4.0%, respectively, while in the corresponding healthy controls were 59. 7%, 33.6% and 6.7%, respectively （X^2 =13. 480,P=0. 010）. The gene frequencies of GG, AG and AA in G428A mutation of Han UC patients were 98. 1%, 1. 9% and 0, respectively, while in the corresponding healthy controls were 83. 9%, 14. 3% and 1. 8%, respectively （Z2= 7. 382, P = 0. 025）. The gene frequencies of GG, AG and AA in G428A mutation of Uyghur UC patients were 69.4%, 18.4% and 12.2%, respectively, and in healthy controls were 35.6%, 51.0% and 13.4%, respectively （X^2 = 18. 790, P〈0. 01）. There were no significant differences in G739A mutation between Han and Uyghur UC patients and healthy controls （all P〈0.05）. Conclusions The FUT2 gene polymorphisms are associated with UC. C357T and G428A are associated with UC in Han population. A385T and G428A are in the Uyghur population, which indicates gene FUT2 may play a potential role in the pathogenesis of UC in Xinjiang region.

关 键 词：结肠炎 溃疡性 岩藻糖基转移酶类 基因多态现象 遗传 新疆 

分 类 号：R574.6[医药卫生—消化系统]