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醫(yī)學(xué)免費(fèi)論文:細(xì)胞毒性淋巴細(xì)胞相關(guān)抗原4基因多態(tài)性與寧夏地區(qū)Graves病的相關(guān)性研究
【摘要】 目的 分析細(xì)胞毒性T淋巴細(xì)胞相關(guān)抗原4(cytotoxic T lymphocyte associated antigen 4，CTLA-4)啟動(dòng)子318C/T位點(diǎn)基因多態(tài)性與寧夏地區(qū)Graves病(Graves' disease，GD)相關(guān)性。 方法 提取61例寧夏地區(qū)GD患者和79例正常對(duì)照組的外周血白細(xì)胞基因組DNA，應(yīng)用PCR-RFLP技術(shù)檢測(cè)CTLA-4啟動(dòng)子(318)位點(diǎn)C318T的多態(tài)性。結(jié)果 GD組與正常對(duì)照組CTLA-4 C318T CC、CT、TT三種基因型分布(χ2=1.80，P =0.18)和等位基因頻率(χ2=1.04，P =0.31)差異無統(tǒng)計(jì)學(xué)意義。結(jié)論 CTLA-4基因SNP-(318)C/T位點(diǎn)可能不是寧夏地區(qū)GD的易感基因。
【關(guān)鍵詞】 細(xì)胞毒性淋巴細(xì)胞相關(guān)抗原4基因;Graves病;基因多態(tài)性
Association between Cytotoxic T lymphocyte associated antigen4 gene promoter polymorphisms
and patients with Graves' disease in Ningxia
KANG Yu-zhi, et al.(Ningxia Medical University, Yinchuan 750004, China)
[Abstract] Objective To investigate the correlation between polymorphisms within Cytotoxic T lymphocyte associated antigen4 (CTLA-4) gene promoter with the Graves' Disease (GD) in Ningxia people.Methods A case controlled study was performed for CTLA-4 (318 C/T) in the promoter region in 61 patients with GD and 79 healthy individuals. The CTLA-4 genotype of these subjects was examined by polymerase chain reaction restriction fragment length polymorphism (PCR-RFLP).Results In the promoter (318) of CTLA-4 gene, the frequencies of genotypes and C/T allele in GD patients did not differ significantly compared with control subjects(P>0.05). Conclusion The position 318 C/T in the promoter of CTLA4 is not determined to be susceptible to GD in Ningxia population.
[Key words] Cytotoxic T lymphocyte associated antigen 4 (CTLA-4);Graves disease;Gene polymorphism
Graves病(Graves disease，GD)是一種T細(xì)胞介導(dǎo)的器官特異性自身免疫性疾病，其發(fā)病依賴于基因和環(huán)境因素的共同作用，病因未明。文獻(xiàn)報(bào)道,細(xì)胞毒性T 淋巴細(xì)胞相關(guān)抗原4(CTLA-4)基因多態(tài)性與GD有一定關(guān)聯(lián)性，但存在地域和種族的差異[1]。我們采用病例-對(duì)照法和聚合酶鏈?zhǔn)椒磻?yīng)限制性片段長(zhǎng)度多態(tài)性(PCR-RFLP)技術(shù)分析CTLA-4(318)C/T的多態(tài)性與寧夏地區(qū)人群GD發(fā)病的相關(guān)性醫(yī).學(xué).全.在.線gydjdsj.org.cn。
1 對(duì)象和方法
1.1 標(biāo)本來源：GD患者組共61例，均為寧夏醫(yī)科大學(xué)附屬醫(yī)院內(nèi)分泌科2007年1月-2009年5月住院患者，且均為初次確診病例，選取三代及以上均在寧夏地區(qū)居住作為篩選標(biāo)準(zhǔn)，其中男20例，女41例，年齡(43.7±11.5)歲，以患者居住地將其分為固原地區(qū)11例，銀南地區(qū)15例，銀川地區(qū)19例，銀北地區(qū)16例。GD診斷依據(jù)內(nèi)科學(xué)第6版，病人有甲亢臨床癥狀、體征、血清甲狀腺激素同位素檢測(cè)異常、促甲狀腺激素受體抗體(TRAb)陽性和B超檢查證實(shí)有彌漫性甲狀腺腫。另隨機(jī)選取到本院體檢健康者血樣79例作為對(duì)照組，其中男34例，女45例，年齡(47.41±11.7)歲，并排除甲狀腺疾病、糖尿病及其他自身免疫性疾病家族史，與患者無血緣關(guān)系，甲功測(cè)定在正常范圍。
