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AllType NGS11位点测序试剂在HLA-DPB1基因分型中的模棱两可结果分析 被引量:1
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作者 董丽娜 陈男英 +3 位作者 王炜 章伟 何吉 朱发明 《中国输血杂志》 CAS 2023年第1期1-7,共7页
目的 统计分析AllType NGS 11位点测序试剂在Ion Torrent S5和Illumina Miseq 2种二代测序平台对HLA-DPB1基因进行分型检测时的模棱两可结果情况。方法 采用One Lambda公司AllType NGS 11位点测序试剂盒检测434个患者或供者标本的HLA-D... 目的 统计分析AllType NGS 11位点测序试剂在Ion Torrent S5和Illumina Miseq 2种二代测序平台对HLA-DPB1基因进行分型检测时的模棱两可结果情况。方法 采用One Lambda公司AllType NGS 11位点测序试剂盒检测434个患者或供者标本的HLA-DPB1基因,其中在Ion Torrent S5测序平台上检测了336个标本,在Illumina Miseq测序平台上检测了98个标本;并同步对434份标本采用PCR-SSO流式磁珠法复核HLA-DPB1基因。对HLA-DPB1*13∶01∶01/107∶01模棱两可等位基因,采用Sanger测序法检测区分。使用TypeStream Visual专业软件指定NGS法的HLA-DPB1基因分型结果,直接计数法统计分析模棱两可组合比例。结果 NGS法以HLA-DPB1命名*后第3区域数字作为高分辨结果进行统计,434个标本中共有357个标本出现模棱两可结果,占82.3%(357/434);其中Ion Torrent S5测序平台336个标本有275个标本存在模棱两可结果,占81.8%(275/336),表现出45种类型;Illumina Miseq测序平台98个标本有82个标本存在模棱两可结果,占83.7%(82/98),表现出27种类型。所有标本HLA-DPB1基因经PCR-SSO法复核,未发现NGS法漏检HLA-DPB1等位基因情况。Sanger测序法检测区分41个标本,共43个HLA-DPB1*13∶01∶01/107∶01模棱两可的等位基因,发现HLA-DPB1*13∶01∶01等位基因为25个,占58.1%(25/43);HLA-DPB1*107∶01等位基因为18个,占41.9%(18/43)。结论 应用AllType NGS 11位点测序试剂仍有较高比例的HLA-DPB1基因模棱两可组合结果。利用Sanger测序法分析HLA-DPB1基因1号外显子可区分解决部分HLA-DPB1*13∶01∶01/107∶01模棱两可等位基因。 展开更多
关键词 二代测序 hla-dpb1基因 模棱两可 测序分析
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基于数据库探索HLA-DPB1基因在泛癌中的潜在价值
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作者 王司颖 闫瑞玲 +1 位作者 管保章 张伟 《暨南大学学报(自然科学与医学版)》 CAS 北大核心 2023年第5期478-493,共16页
目的:探索HLA-DPB1在泛癌中的表达及其对患者预后、肿瘤免疫细胞浸润的影响及作用机制。方法:从UCSC XENA、TCGA数据库获取基因转录组和临床数据,从UALCAN、HPA数据库获取HLA-DPB1蛋白质在泛癌中的表达情况;使用Cox回归和Kaplan-Meier... 目的:探索HLA-DPB1在泛癌中的表达及其对患者预后、肿瘤免疫细胞浸润的影响及作用机制。方法:从UCSC XENA、TCGA数据库获取基因转录组和临床数据,从UALCAN、HPA数据库获取HLA-DPB1蛋白质在泛癌中的表达情况;使用Cox回归和Kaplan-Meier分析评估HLA-DPB1在泛癌中的预后价值;使用ESTIMATE算法和Timer数据库分析HLA-DPB1表达与免疫细胞浸润的相关性;使用cBioPortal数据库分析泛癌中HLA-DPB1的基因突变及其对预后的影响;使用STRING,GEPIA2及R包对HLA-DPB1相关基因进行GO功能注释及KEGG通路富集分析,进一步通过GSEA软件分析HLA-DPB1的生物学功能;采用Cancer SEA数据库分析HLA-DPB1对单个细胞功能状态的影响。结果:HLA-DPB1在大多数肿瘤组织中表达升高,HLA-DPB1高表达与宫颈鳞癌和腺癌(P=0.03)、肾透明细胞癌(P=1.8×10^(-3))、肺腺癌(P=1.0×10^(-4))、子宫内膜癌(P=0.02)、肉瘤(P=4.5×10^(-3))、皮肤黑色素瘤(P=5.6×10^(-7))的良好预后显著相关。HLA-DPB1基因突变存在于多种恶性肿瘤中,是皮肤恶性肿瘤的不良预后因素。HLA-DPB1表达促进肿瘤微环境中的免疫细胞浸润和免疫检查点相关基因的表达。HLA-DPB1可能通过FcεRI介导Ca^(2+)动员、丝裂原活化蛋白激酶(MAPK)激活及NF-κB激活等信号通路参与肿瘤免疫、炎症反应过程。结论:HLA-DPB1的表达水平与不同肿瘤患者的临床预后及免疫细胞浸润高度相关,HLA-DPB1有望成为新的肿瘤预后标志物和免疫治疗的潜在靶点。 展开更多
关键词 hla-dpb1 泛癌分析 免疫浸润 生存预后
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Influence of HLA-DRB1 alleles and HBV genotypes on interferon-α therapy for chronic hepatitis B 被引量:14
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作者 Rui-Hai Chu Li-Xian Ma Gang Wang Li-Hua Shao 《World Journal of Gastroenterology》 SCIE CAS CSCD 2005年第30期4753-4757,共5页
AIM. To investigate the influence of HLA-DRB1 alleles and HBV genotypes on inberferon-α therapy for chronic hepatitis B. METHODS: HLA-DRBI*03, *07, *09,*12, *15 alleles were determined using polymerase chain re... AIM. To investigate the influence of HLA-DRB1 alleles and HBV genotypes on inberferon-α therapy for chronic hepatitis B. METHODS: HLA-DRBI*03, *07, *09,*12, *15 alleles were determined using polymerase chain reaction/sequence specific primer (PCR/SSP) technique in 126 patients with chronic hepatitis B and 76 normal control subjects in Shandong Province, and HBV genotypes were determined by nested-PCR analysis using type-specific primers in 126 patients. RESULTS: The positivity of HLA-DRB1*07 allele in chronic hepatitis B group was significantly higher than that in normal control group (X^2 = 6.33, P〈0.025, RR = 2.37). Among the 126 patients, genotype B was found in 38 (30.2%), genotype C in 69 (54.8%), and mixed genotype (B+C) in 19 (15.0%), genotypes D-F were not found. Among the 46 DRB1*07(+) patients, 7 were responders and 39 were non-responders among them (X^2 = 6.71, P〈0.05). The positivity of HLADRB1*07 and prevalence of HBV genotype C were significantly higher in non-responders than in responders. CONCLUSION: High positivities of HLA-DRB1 *07 allele and HBV genotype C are closely associated with the lower response to interferon-α therapy for chronic hepatitis B. 展开更多
关键词 HLA-DRB1 alleles HBV genotypes Interferon-α therapy Chronic hepatitis B
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Specific HLA-DQB1 alleles associated with risk for development of hepatocellular carcinoma:A meta-analysis 被引量:8
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作者 Yong-Ning Xin Zhong-Hua Lin +4 位作者 Xiang-Jun Jiang Shu-Hui Zhan Quan-Jiang Dong Qing Wang Shi-Ying Xuan 《World Journal of Gastroenterology》 SCIE CAS CSCD 2011年第17期2248-2254,共7页
AIM:To evaluate the association of human leukocyte antigen(HLA)-DQB1 alleles with hepatocellular carcinoma(HCC) through meta-analysis of published data.METHODS:Case-control studies on HLA-DQB1 allele association with ... AIM:To evaluate the association of human leukocyte antigen(HLA)-DQB1 alleles with hepatocellular carcinoma(HCC) through meta-analysis of published data.METHODS:Case-control studies on HLA-DQB1 allele association with HCC published up to January 2010 were included in the analyses.The odds ratios(ORs) of HLADQB1 allele distributions in HCC patients were analyzed and compared with healthy controls.The meta-analysis software REVMAN 5.0 was applied for investigating heterogeneity among individual studies and for summarizing all the studies.A meta-analysis was performed using fixed-effect or random-effect methods,depending on the absence or presence of significant heterogeneity.Seven case-control studies containing 398 cases and 594 controls were included in the final analysis.RESULTS:Among the five family alleles,two(DQB1*02 and DQB1*03) were found to be significantly associated with the risk of HCC.The combined OR for the association of DQB1*02 and DQB1*03 allele with the risk for HCC was 1.78(95% CI:1.05-3.03,P = 0.03) and 0.65(95% CI:0.48-0.89,P = 0.007),respectively.Among the 13 specific alleles,two(DQB1*0502 and DQB1*0602) were significantly associated with risk of HCC.The combined OR for the association of DQB1*0502 and DQB1*0602 allele with the risk for HCC was 1.82(95% CI:1.14-2.92,P = 0.01) and 0.58(95% CI:0.36-0.95,P = 0.03),respectively.No significant association was established for other HLA-DQB1 family alleles and specific alleles.CONCLUSION:Our results support the hypothesis that specific HLA-DQB1 allele families and alleles might influence the susceptibility or resistance to HCC,although it needs further investigations. 展开更多
关键词 Hepatocellular carcinoma Human leukocyte antigen-DQB1 alleles META-ANALYSIS
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Human leukocyte antigen class-Ⅱ DRB1 alleles and Giardia lamblia infection in children: A case-control study 被引量:1
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作者 Samar N.El-Beshbishi Ayat A.ElBlihy +2 位作者 Raefa A.Atia Ahmed Megahed Fatma A.Auf 《Asian Pacific Journal of Tropical Medicine》 SCIE CAS 2020年第2期56-61,共6页
Objective:To compare the genotype frequencies of HLA class-ⅡDRB1 alleles in Giardia(G.)lamblia-infected children.Methods:A total of 490 Egyptian children aged 2-16 years were subjected to microscopic stool examinatio... Objective:To compare the genotype frequencies of HLA class-ⅡDRB1 alleles in Giardia(G.)lamblia-infected children.Methods:A total of 490 Egyptian children aged 2-16 years were subjected to microscopic stool examination to detect G.lamblia infection,and to exclude other intestinal pathogens.On the basis of their microscopic findings,a group of 80 children were chosen as giardiasis cases,another 80 children were confirmed as Giardia free control group by immunochromatographic test,and the remaining children were excluded.Both giardiasis and control groups were then subjected to blood examination to identify their genetic type of HLA-DRB1 alleles.Results:HLA class-ⅡDRB1*03:01 and DRB1*13:01 alleles were significantly associated with G.lamblia infection(P<0.001 for each variable).On the other hand,HLA class-ⅡDRB1*04:02,DRB1*10:01,DRB1*14:01 and DRB1*15:01 alleles were significantly demonstrated in Giardia free children.However,other HLA-DRB1 alleles did not show any significant association with giardiasis.Conclusions:HLA class-ⅡDRB1*03,DRB1*13,DRB1*04,DRB1*10,DRB1*14 and DRB1*15 alleles may be involved in the establishment of host immune response to G.lamblia infection. 展开更多
关键词 Giardia LAMBLIA GIARDIASIS Human leukocyte antigen HLA class-ⅡDRB1 alleles CHILDREN
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Helicobacter pylori vacA s1a and s1b alleles from clinical isolates from different regions of Chile show a distinct geographic distribution 被引量:1
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作者 MI Díaz A Valdivia +14 位作者 P Martínez JL Palacios P Harris J Novales E Garrido D Valderrama C Shilling A Kirberg E Hebel J Fierro R Bravo F Siegel G Leon G Klapp A Venegas 《World Journal of Gastroenterology》 SCIE CAS CSCD 2005年第40期6366-6372,共7页
AIM: To establish the most common vacA alleles in Helicobacter pylori ( H pylon) strains isolated from Chilean patients and its relationship with gastritis and gastroduodenal ulcers, METHODS: Two hundred and forty... AIM: To establish the most common vacA alleles in Helicobacter pylori ( H pylon) strains isolated from Chilean patients and its relationship with gastritis and gastroduodenal ulcers, METHODS: Two hundred and forty five Hpyloriclinical isolates were obtained from 79 biopsies from Chilean infected patients suffedng from gastrointestinal diseases. An average of 2-3 strains per patient was isolated and the vac4 genotype was analyzed by PCR and 3% agarose electrophoresis. Some genotypes were checked by DNA sequencing. RESULTS: The most prevalent vacA genotype in Chilean patients was slb ml (76%), followed by sla ml (21%). In oontrast, the s2 m2 genotype was scarcely represented (3%). The slb ml genotype was found most frequently linked to gastropathies (P〈0.05) rather than ulcers. Ulcers were found more commonly in male and older patients. Curiously, patents IMng in dties located North and far South of Santiago, thecapital and largest Chilean city, carried almost exclusively strains with the slb ml genotype. In contrast, patients from Santiago and cities located South of Santiago carded strains with either one or both sla ml and slb ml genotypes. Regarding the s2 m2 genotype, comparison with GenBank sequences revealed that Chilean s2 sequence was identical to those of Australian, American, and Colombian strains but quite different from those of Alaska and India. CONCLUSION: Differences in geographic distribution of the s and m vacA alleles in Chile and a relationship of slb ml genotype with gastritis were found. Sequence data in part support a hispanic origin for the vacA genotype. Asymmetric distribution of genotypes slb ml and s2 m2 recedes H Pyloristrain distribution in Spain and Portugal. 展开更多
关键词 Hpylori vacA alleles Chilean isolates s1 s2 m1 and m2 sequences
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Low Frequencies of CCR5-Δ32 and CCR5-m303,but High Frequencies of CCR2-641 and SDF1-3'A Alleles in Indigenous Ethnic Groups in China's Mainland 被引量:5
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作者 王福生 金磊 +11 位作者 洪卫国 刘明旭 周越塑 张冰 施明 王吉明 雷周云 王哲 冯铁建 侯静 李光汉 曹韵贞 《Chinese Journal of Sexually Transmitted Infections》 2002年第1期7-12,共6页
Objective: The aim in this study was to identify the allelicfrequencies of the chemokine (SDF1-3'A) and chemokinereceptor (CCR5△32, CCR5m303 and CCR2-64I) genesresistant to HIV-1 infection and/or disease progress... Objective: The aim in this study was to identify the allelicfrequencies of the chemokine (SDF1-3'A) and chemokinereceptor (CCR5△32, CCR5m303 and CCR2-64I) genesresistant to HIV-1 infection and/or disease progression inindigenous Chinese populations. Methods: By using QIAamp DNA Blood Mini Kit, thegenomic DNA samples were purified from whole peripheralblood of healthy individuals (n=2067) from Han, Uygur,Mongolian and Tibetan ethnic groups, as well as Han patientsincluding HIV-1 carriers (n=330), patients with other sexuallytransmitted diseases (STDs, n=259) and intravenous drugusers (IVDUs, n=125). The allelic polymorphisms wereidentified by means of PCR or PCR-RFLP analyses. Thesequences of randomly selected amplified PCR products werefurther confirmed by direct DNA sequencing. Results: The mutant frequencies were identified to be0%~3.48% for CCR5△32, 0% for CCR5m303,19.15%~28.79% for CCR2-64 and 19.10%~28.73% for SDF1-3'A alleles, respectively, in Chinese healthy individuals fromfour ethnic groups. Our findings indicated the allelicfrequencies vary among the different ethnic groups.Furthermore, the HIV-1 carriers, STD cases and IVDUs (all ofHan ethnicity) were found to have the allelic frequencies of0%~0.19% (CCR5△32), 0% (CCR5m303), 19.31%~20.45%(CCR2-64) and 25.61%~26.83% (SDF1-3'A) with minorvariations in their frequencies between the patients andhealthy Han groups. There was no CCR5-m303 mutationfound in any subject in this study. Conclusion: The examined subjects of four Chinese ethnicorigins showed lower frequencies of CCR5△32 andCCR5m303 alleles, but higher frequencies of mutant CCR2-64I and SDF1-3'A alleles compared to those identified innorthern-European and American Caucasians. Thesignificance of the different frequencies and polymorphisms ofthe above alleles in Chinese populations needs to be furtherexamined in HIV-1/AIDS diseases. 展开更多
关键词 HIV-1 coreceptors POLYMORPHISM allelic frequency mutation
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A Study of the Best Probes to Detect HLA-DPB1, DQB1 Allele Genes
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作者 克丙申 孙晓明 《Chinese Medical Sciences Journal》 CAS CSCD 1995年第3期130-130,共1页
AStudyoftheBestProbestoDetectHLA-DPB1,DQB1AlleleGenesKeBingshen(克丙申)andSunXiaoming(孙晓明)(DepartmentofImmunolo... AStudyoftheBestProbestoDetectHLA-DPB1,DQB1AlleleGenesKeBingshen(克丙申)andSunXiaoming(孙晓明)(DepartmentofImmunology,JinanMilitaryG... 展开更多
关键词 hla-dpb1基因 DQB1基因 等位基因 基因探针
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C3 PHENOTYPE AND ALLELES,C3 HAV4-1 MONOCLONAL PHENOTYPE DISTRIBUTION IN HYPERTENSIVE PATIENTS WITH IgA GLOMERULONEPHRITIS
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作者 郭冀珍 《Medical Bulletin of Shanghai Jiaotong University》 CAS 1995年第1期71-76,共6页
Using isoelective focusing in immobilized pH gradients and immunoblot, C3 phenotypes (F, FS, S) and C3 HAV4-1 monoclonal (F±S±) phenotypes were performed in 90 patients with IgA glomerulonephrits,(G.N.).incl... Using isoelective focusing in immobilized pH gradients and immunoblot, C3 phenotypes (F, FS, S) and C3 HAV4-1 monoclonal (F±S±) phenotypes were performed in 90 patients with IgA glomerulonephrits,(G.N.).including 49 IgA G. N.hypertensive (H.T.) patients and 41 IgA G. N. normotensive (N.T.) patients, and in 224 normal subjects (N.S.). A significant difference of C3 phenotype distribution between both IgA G. N.(hypertensive and normotensive) and N. S. was .found (P<0.01,P<0.01respectively).In monoclonal C3 HAV4-1(±) distribution significant difference between IgA H. T.and N.S.was observed (P<0.01). Furthermore, F and S allele .frequency of IgA G. N. including HT and NT is significantly. different (P<0.05). This data suggests that hypertensive patients with IgA G. N. seems to be related io the abnormal C3 genetic factors and if this gene distributions can be used as a predictor for the prognosis still needs futher investigations. 展开更多
关键词 IGA glomerulonephrtis hypertension genetic C3 complement C3 phentypes (F FS S) C3 allele frequency. (F S) C3 HAV4 -1 MONOCLONAL (F±S±) phenotypes distribtion
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HLA-DPB_1等位基因对广西汉族重症肌无力的遗传易感性研究 被引量:2
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作者 莫雪安 黄文 +2 位作者 龙桂芳 马朝桂 郑金瓯 《中国神经精神疾病杂志》 CAS CSCD 北大核心 1998年第6期353-355,共3页
目的探讨HLA-DPB1等位基因对广西汉族重症肌无力(MG)的遗传易感性。方法用限制性片段长度多态性(PCR-RFLP)多酶共同消化法对HLA-DPB1的31个等位基因进行分型。结果发现广西汉族MG患者的HLA-DP... 目的探讨HLA-DPB1等位基因对广西汉族重症肌无力(MG)的遗传易感性。方法用限制性片段长度多态性(PCR-RFLP)多酶共同消化法对HLA-DPB1的31个等位基因进行分型。结果发现广西汉族MG患者的HLA-DPB10501及3601的频率明显高于正常人。DPB12701在全身型MG明显增多。DPB1易感基因为纯合子时,MG发病早,并与全身型MG密切相关。早发病MG与晚发病MG、男性MG与女性MG、眼肌型MG与全身型MG的HLA-DPB1遗传背景有所不同。结论广西汉族MG的HLA-DPB1易感基因为0501、3601及2701,其中前两者对MG发病最重要。 展开更多
关键词 重症肌无力 hla-dpb1 等位基因 遗传易感性
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上海地区汉族正常人及类风湿关节炎病人HLA-DPB1基因多态性分析 被引量:4
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作者 朱乃硕 王福庆 +1 位作者 陈诗书 王慧 《中国免疫学杂志》 CSCD 北大核心 2000年第4期196-197,共2页
关键词 汉族 类风湿性关节炎 hla-dpb1基因 基因多态性
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新疆石河子地区汉族人群HLA-DPB1基因多态性与肺结核易感的相关性研究 被引量:1
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作者 卢丽君 吴江东 +3 位作者 左维泽 张万江 章乐 吴芳 《中国免疫学杂志》 CAS CSCD 北大核心 2015年第9期1225-1228,1249,共5页
目的:探讨研究新疆石河子地区的汉族肺结核患者与汉族健康对照者的人类白细胞抗原(HLA)-DPB1等位基因的多态性及其与肺结核易感的相关性。方法:采用DNA水平基于测序的分型方法(Sequence-based typing,SBT),通过病例-对照研究93例新疆石... 目的:探讨研究新疆石河子地区的汉族肺结核患者与汉族健康对照者的人类白细胞抗原(HLA)-DPB1等位基因的多态性及其与肺结核易感的相关性。方法:采用DNA水平基于测序的分型方法(Sequence-based typing,SBT),通过病例-对照研究93例新疆石河子地区汉族肺结核患者与96例同一地区的汉族随机健康对照者的HLA-DPB1位点的多态性,通过统计分析研究结果,筛选出易感和保护性基因。结果:在健康对照组中,共筛选出16个等位基因,其中HLA-DPB1*0501(28.1%)和HLA-DPB1*0201(27.6%)的基因频率显著高于其他位点,分别位居第一第二;病例组与对照组研究发现,HLADPB1*0201在对照组中的频率显著高于病例组(P<0.05)。而HLA-DPB1*0501在病例组的频率显著高于对照组(P<0.05)。结论:新疆石河子地区汉族人群HLA-DPB1基因频率与中国其他地区北方汉族人群大体一致;同时本研究提示HLADPB1*0501可能为新疆石河子地区汉族肺结核的易感性基因,而HLA-DPB1*0201则可能为其保护性基因。 展开更多
关键词 肺结核 hla-dpb1等位基因 多态性 易感性
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HLA-DPB1 TCE错配及表达模型在同胞相合造血干细胞移植中的评估 被引量:2
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作者 齐珺 王天菊 +7 位作者 郝剑 尚利侠 王满妮 武君华 陈乐 王小芳 房婕 李恒新 《中国输血杂志》 CAS 2020年第9期876-880,共5页
目的回顾性调查陕西籍汉族同胞相合造血干细胞移植(HSCT)供受者HLA-DPB1配合情况以及HLA-DPB1 3′-UTR rs9277534分型,运用TCE(T-cell epitope)和表达模型进行风险评估。方法应用聚合酶链反应-测序分型(PCR-SBT)、下一代测序(NGS-ION S5... 目的回顾性调查陕西籍汉族同胞相合造血干细胞移植(HSCT)供受者HLA-DPB1配合情况以及HLA-DPB1 3′-UTR rs9277534分型,运用TCE(T-cell epitope)和表达模型进行风险评估。方法应用聚合酶链反应-测序分型(PCR-SBT)、下一代测序(NGS-ION S5TM)技术、基于LABScan■ 3D平台的聚合酶链反应-序列特异寡核苷酸探针技术(PCR-SSO)等方法对64对HLA-A,B,C,DRB1,DQB1 10/10相合的同胞供受者进行HLA-DPB1基因分型和新等位基因的确证,对DPB1错配供受者rs9277534 SNP位点进行测序,依据DPB1 T-Cell Epitope Algorithm version 3.0和rs9277534基因型进行TCE模型和表达模型预测。结果在64例HSCT受者中共计检出14种DPB1等位基因,其中DPB1*05∶01∶01G、DPB1*02∶01和DPB1*04∶01∶01G频率分布最高,分别占31.25%、20.31%和16.41%;发现新等位基因1例,于2020年6月26日被正式命名为HLA-DPB1*1120∶01;检出的3对错配供受者均为单一DPB1位点不合,DPB1座位热点交换率为4.69%,且均为不允许错配(non-PM);rs9277534基因型分别为AG/AG、AG/GG和AA/AG,供受对1较供受对2和3可能存在更高发生急性移植物抗宿主病(aGVHD)的风险。结论同胞相合HSCT中仍需关注HLA-DPB1呈现的TCE不允许错配及表达模型所预示的移植后风险。 展开更多
关键词 造血干细胞移植 hla-dpb1 T细胞表位 rs9277534 急性移植物抗宿主病
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山东地区汉族人HLA-DPB1基因单核苷酸多态性 被引量:1
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作者 克丙申 张胜兰 +3 位作者 邢万佳 黄象艳 周仲玲 徐军 《基础医学与临床》 CSCD 北大核心 2002年第1期54-58,共5页
使用第十一届国际组织相容性会议提供的HLA DPB1引物序列 ,由PCR技术扩增人HLA DPB1基因第二外显子。产物纯化后 ,直接核酸序列分折确定个体的HLA DPB1外显子核酸序列。使用基因定型软件与由国际上公布的HLA DPB1核酸序列构建的基因型... 使用第十一届国际组织相容性会议提供的HLA DPB1引物序列 ,由PCR技术扩增人HLA DPB1基因第二外显子。产物纯化后 ,直接核酸序列分折确定个体的HLA DPB1外显子核酸序列。使用基因定型软件与由国际上公布的HLA DPB1核酸序列构建的基因型核酸序列数据库进行比较 ,确定个体的基因型别、确定等位基因类型。研究结果提示中国人HLA DPB1第二外显子基因序列与国际上公布的序列基本一致 ,但有不同之处 ,多处存在单核苷酸多态性 (SNP) ,提示存在有新的等位基因。对 51例个体研究显示 ,出现频率最高的等位基因是DPB1 0 2 0 1 2。 展开更多
关键词 白细胞抗原 核酸序列分析 hla-dpb1 单核苷酸多态性
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HLA-DPB1等位基因与重症肌无力相关性研究 被引量:2
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作者 王洪新 马春花 +1 位作者 程玲 毛雪梅 《青岛大学医学院学报》 CAS 2001年第2期123-124,共2页
①目的 探讨人类白细胞抗原 (HLA DPB1)在重症肌无力 (MG)发病中的作用。②方法 采用聚合酶链反应限制性长度多态性 (PCR RFLP)技术 ,对 34例MG病人及 5 1例健康人HLA DP对应的HLA DPB1基因进行分型 ,并对其DPB1的各等位基因的频率进... ①目的 探讨人类白细胞抗原 (HLA DPB1)在重症肌无力 (MG)发病中的作用。②方法 采用聚合酶链反应限制性长度多态性 (PCR RFLP)技术 ,对 34例MG病人及 5 1例健康人HLA DP对应的HLA DPB1基因进行分型 ,并对其DPB1的各等位基因的频率进行比较分析。③结果 HLA DPB1 0 5 0 1与MG有一定关系 (χ2 =9.81,P <0 .0 5 )。④结论 HLA 展开更多
关键词 重症肌无力 HLA-D抗原 基因 聚合酶链反应 限制性片段长度多态性 hla-dpb1 相关性 等位基因
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HLA-DPB1及PRTN3基因和ANCA相关性小血管炎的相关性分析 被引量:2
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作者 吴子燕 吴庆军 +8 位作者 徐涓娟 陈思 孙菲 李萍 白伊娜 郑文洁 陈华 张奉春 李永哲 《标记免疫分析与临床》 CAS 2014年第6期709-714,共6页
背景 ANCA相关性小血管炎(ANCA-associated vasculitides,AAV)包括肉芽肿性多血管炎(granulomatosis withpolyangiitis,GPA)、显微镜下多血管炎(microscopic polyangitis,MPA)和嗜酸细胞性肉芽肿性多血管炎(eosinophilicgranulom... 背景 ANCA相关性小血管炎(ANCA-associated vasculitides,AAV)包括肉芽肿性多血管炎(granulomatosis withpolyangiitis,GPA)、显微镜下多血管炎(microscopic polyangitis,MPA)和嗜酸细胞性肉芽肿性多血管炎(eosinophilicgranulomatosis with polyangitis,EGPA).前期的AAV易感基因研究主要着眼于白种人,鉴于人群异质性及种族差异的存在,故而本研究着眼于探究HLA-DPB1、PRTN3及CD226基因与中国北方汉族人群AAV的相关性.方法 使用Sequenom MassArray质谱阵列技术(Sequenom iPLEX assay,San Diego,CA)对待检者进行基因分型.本研究共纳入了196例AAV患者(GPA 100例,MPA 76例,EGPA 20例)和485名健康对照者.结果 GPA组与健康对照组比较,Rs3117242(HLA-DPB1)的T等位基因频率显著上升(68.0% vs.50.4%),差异有统计意义(OR=2.09,95% CI:1.51~2.88,Pc <0.001),但MPA组、EGPA组与健康对照组比较,差异均无统计学意义(Pc =0.09,Pc =0.94).针对Rs3117242(HLA-DPB1)位点的基因型频率进行分析,其结果与等位基因频率分析结果类似.与健康对照组比较,无论是AAV组或GPA组或PA组或EGPA组,其他基因的SNP位点的等位基因频率或是基因型频率分布的差异均无统计学意义(Pc>0.05).结论 Rs3117242(HLA-DPB1)是中国北方汉族人群GPA的易感位点.这一研究为深入探讨GPA的发病机制提供了新的线索. 展开更多
关键词 ANCA相关性小血管炎(AAV) 肉芽肿性多血管炎(GPA) 显微镜下多血管炎(MPA) hla-dpb1基因 中国北方汉族人群
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儿童系统性红斑狼疮与HLA-DPB1基因相关性研究 被引量:1
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作者 张俊梅 李彩凤 何晓琥 《北京医学》 CAS 2010年第11期910-913,共4页
目的研究儿童系统性红斑狼疮(SLE)与人类白细胞抗原(HLA)-DPB1基因的相关性。方法对95例SLE患儿和74例正常对照者,应用序列特异性引物聚合酶链式反应扩增法(PCR-SSP)检测HLA-DPB1基因的等位基因。结果 DPB1*0501等位基因频率在SLE组(31.... 目的研究儿童系统性红斑狼疮(SLE)与人类白细胞抗原(HLA)-DPB1基因的相关性。方法对95例SLE患儿和74例正常对照者,应用序列特异性引物聚合酶链式反应扩增法(PCR-SSP)检测HLA-DPB1基因的等位基因。结果 DPB1*0501等位基因频率在SLE组(31.6%)明显低于对照组(48.0%),校正P值(Pc)<0.05,相对风险度(RR)为0.4792,预防分数(PF)为0.3730。DPB1*0201等位基因频率在狼疮脑病患儿明显高于正常对照组;DPB1*0501等位基因频率在狼疮脑病患儿明显低于正常对照组,但确切概率P值(Pf)>0.05;其余各等位基因频率在SLE组和对照组、SLE不同临床表型与对照组间均无显著性差异(Pf>0.05)。结论 DPB1*0501等位基因可能对儿童系统性红斑狼疮发病有保护性作用。 展开更多
关键词 系统性红斑狼疮 hla-dpb1基因
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PCR-SBT法分析内蒙古地区鄂温克族人群HLA-DPB1等位基因型别
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作者 海荣 毕力夫 +1 位作者 徐安龙 苏秀兰 《中国免疫学杂志》 CAS CSCD 北大核心 2005年第8期602-604,共3页
目的:调查内蒙古鄂温克族人群人类白细胞抗原(Humanleukocyteantigen,HLA)DPB1基因多态性。方法:采用SBT(sequecing-based-typing)法。结果:在所检测的DPB1等位基因中,共检出20个等位基因,其中频率最高的是DPB1*02012(24.4%),其次是DPB1... 目的:调查内蒙古鄂温克族人群人类白细胞抗原(Humanleukocyteantigen,HLA)DPB1基因多态性。方法:采用SBT(sequecing-based-typing)法。结果:在所检测的DPB1等位基因中,共检出20个等位基因,其中频率最高的是DPB1*02012(24.4%),其次是DPB1*0402(22.6%),DPB1*0401(20.2%),DPB1*0501(10.7%),其余等位基因频率均低于5%。结论:内蒙古地区鄂温克族人群中HLA-DPB1分布特征有独特性,为本民族的人类学及疾病相关性研究提供依据。 展开更多
关键词 PCR-SBT法 内蒙古 鄂温克族 hla-dpb1 等位基因 基因型别 人类白细胞抗原
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骨肉瘤中HLA-DPB1等位基因的初步研究
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作者 蒋黎华 张伟滨 +2 位作者 姚芳娟 范丽安 沈才伟 《实用癌症杂志》 1998年第3期190-192,共3页
为探索骨肉瘤与HLAⅠ类抗原关联的内在机制,采用聚合酶链反应/顺序特异的寡核苷酸探针方法,对22例骨肉瘤和48例正常组织对照进行HLADPB1等位基因检测,结果显示,作为HLAⅡ类抗原的DPB1等位基因与骨肉瘤无相... 为探索骨肉瘤与HLAⅠ类抗原关联的内在机制,采用聚合酶链反应/顺序特异的寡核苷酸探针方法,对22例骨肉瘤和48例正常组织对照进行HLADPB1等位基因检测,结果显示,作为HLAⅡ类抗原的DPB1等位基因与骨肉瘤无相关性。 展开更多
关键词 骨肿瘤 骨肉瘤 hla-dpb1 等位基因 病因 病理
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HLA-B和-DRB1、HLA-DQB1和-DPB1座位基因重组的分析
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作者 陈晨 王炜 +3 位作者 陈男英 董丽娜 章伟 朱发明 《中国实验血液学杂志》 CAS CSCD 北大核心 2023年第3期855-859,共5页
目的:探讨2个家系人类白细胞抗原(HLA)座位的重组情况。方法:采集家系成员的外周血,提取基因组DNA,采用聚合酶链反应-序列特异性寡核苷酸探针技术(PCR-SSO)和二代测序技术检测HLA-A、-B、-C、-DRB1、-DQB1和-DPB1座位,通过家系遗传分析... 目的:探讨2个家系人类白细胞抗原(HLA)座位的重组情况。方法:采集家系成员的外周血,提取基因组DNA,采用聚合酶链反应-序列特异性寡核苷酸探针技术(PCR-SSO)和二代测序技术检测HLA-A、-B、-C、-DRB1、-DQB1和-DPB1座位,通过家系遗传分析确定个体HLA单体型。结果:家系1中单体型HLA-A*11:01~C*03:04~B*13:01~DRB1*12:02~DQB1*03:01~DPB1*05:01:01G与HLA-A*03:01~C*04:01~B*35:03~DRB1*12:01~DQB1*03:01~DPB1*04:01:01G在HLA-B和HLA-DRB1座位间进行了交换,形成HLA-A*11:01~C*03:04~B*13:01~DRB1*12:01~DQB1*03:01~DPB1*04:01:01G。家系2中单体型HLA-A*02:06~C*03:03~B*35:01~DRB1*08:02~DQB1*04:02~DPB1*13:01:01G与HLA-A*11:01~C*07:02~B*38:02~DRB1*15:02~DQB1*05:01~DPB1*05:01:01G在HLA-DQB1和HLA-DPB1座位间进行了交换,形成HLA-A*02:06~C*03:03~B*35:01~DRB1*08:02~DQB1*04:02~DPB1*05:01:01G。结论:2个中国汉族人群家系分别发生了HLA-B和-DRB1、HLA-DQB1和-DPB1座位间的基因重组。 展开更多
关键词 人类白细胞抗原(HLA) 基因重组 二代测序 HLA-B和HLA-DRB1座位 HLA-DQB1hla-dpb1座位
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