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1.
目的:探讨中国汉族人群系统性红斑狼疮(SLE)与HLA-DQB1基因的关联情况.方法:检索已发表的有关中国汉族人群SLE和HLA-DQB1关联研究的文献,剔除不符合要求的文献,应用Revman4.1软件进行一致性检验和数据合并.结摹:等位基因DQB1*0502、DQB1*0601可能是中国汉族人群SLE患者的危险基因(P<0.05);等位基因DQB1*0301、DQB1*0302和DQB1*0401可能是中国汉族人群SLE患者的保护基因(均P<0.05).结论:中国汉族人群SLE与HLA-DQB1的某些等位基因具有关联性,且与其他种族人群有差异.  相似文献   

2.
目的综合评价中国人群HLA-DR基因多态性与胰岛素依赖性糖尿病(IDDM)的关联性.方法以IDDM组和健康对照组的各HLA-DR等位基因频数(基因型频数、单倍型频数)分布的OR值为统计量.全面检索相关文献,应用Meta分析对血清学分型和基因分型研究的结果进行一致性检验和数据合并,并评估发表偏倚.结果①血清学分型水平上,HLA-DR3和DR9等位基因,DR3/DR4和DR3/DR9杂合子是中国人群IDDM的危险基因(或基因型)(P<0.05),合并OR值分别为5.08,1.59,26.74和10.74.而HLA-DR2,DR5,DR7,DR12是中国人群IDDM的保护基因(P<0.05),合并OR值分别为0.65、0.57、0.52和0.40;②基因分型水平上,HLA-DRB1*0301,DRB1*04,DRB1*0404和DRB1*0405等位基因是中国人群IDDM的危险基因(P<0.05),合并OR值分别为5.53,2.12,2.40和2.33;单倍型DRB1*0301/DQA1*0301/DQB1*0201和DRB1*0405/DQB18*0302,基因型DRB1*0405/DRB1*0405和DRB1*0405/DRB1*04是中国人群IDDM的危险单倍型(或基因型)(P<0.05),合并OR值分别为6.57,14.85,8.08和1.90;而HLA-DRB1*0406,DRB1*0408,DRB1*06,DRB1*07,DRB1*08,DRB1*1301,DRB1*14和DRB1*16是中国人群IDDM的保护基因(P<0.05),合并OR值分别为0.39,0.11,0.17,0.56,0.33,0.14,0.28和0.39.结论中国人群IDDM与HLA-DR的某些基因型及单倍型有关联性,而且与其他非中国人群有区别.  相似文献   

3.
目的 应用传递 /不平衡方法 ,分析HLA -D区系统性红斑狼疮 (SLE)等位基因的家系相关性。方法 对 42个SLE家系提取DNA ,PCR并进行杂交 ,根据DQA1、DQB1、DRB1位点的关联分析结果 ,对这 3个位点关联显著的等位基因进行传递 /不平衡分析。结果 DQA1 0 10 2在家系中经TDT传递不平衡检验 ,χ2 =5 .80 ,Pc<0 .0 5 ;DQA1 0 5 0 1,χ2 =3.2 4,P >0 .0 5 ;DQB1、DRB1位点等位基因经TDT与sTDT的联合检验 ,未发现显著相关性 ,z值均小于 1.96 ,P >0 .0 5。结论 传递 /不平衡检验结果发现 ,DQA1 0 10 2等位基因与SLE相关 ,提示该等位基因可能是中国南方汉族人群中与SLE有关的一个易感等位基因。  相似文献   

4.
目的 探讨云南汉族系统性红斑狼疮(SLE)患者各种临床表型与HLA-DRB1、DQA1、DQB1等位基因及单体型的相关性.方法 采用多聚酶链反应-序列特异性引物(PCR-SSP)技术对73例云南汉族SLE患者进行DRB1、DQA1、DQB1 3个位点的基因分型.结果 云南汉族SLE患者中有蝶形红斑皮损者DR15(DRB1*1501-*1502)等位基因频率增加(80.0%vs 37.5%,x2=6.658,P=0.010,OR=6.667);DR15-DQB1*0501单体型频率增加(同前),排除DQB1的影响后,仍与DR15相关.结论 云南汉族SLE蝶形红斑皮疹的出现与DR15(DRB1*1501-*1502)等位基因及DR15-DQB1*0501单体型相关.其它临床亚型如盘状红斑、光敏感、口腔溃疡、关节炎、浆膜炎、肾脏损害、神经系统损害、血液系统损害、血管炎等未见与特定等位基因及单体型相关.  相似文献   

5.
目的 探讨云南汉族系统性红斑狼疮(SLE)患者各种临床表型与HLA-DRB1、DQA1、DQB1等位基因及单体型的相关性.方法 采用多聚酶链反应-序列特异性引物(PCR-SSP)技术对73例云南汉族SLE患者进行DRB1、DQA1、DQB1 3个位点的基因分型.结果 云南汉族SLE患者中有蝶形红斑皮损者DR15(DRB1^*1501-^*1502)等位基因频率增加(80.0%vs37.5%,x^2=6.658,P=0.010,OR=6.667);DR15-DQB1^*0501单体型频率增加(同前),排除DQB1的影响后,仍与DR15相关.结论 云南汉族SLE蝶形红斑皮疹的出现与DR15(DRB1^*1501-^*1502)等位基因及DRl5-DQB1^*0501单体型相关.其它临床亚型如盘状红斑、光敏感、口腔溃疡、关节炎、浆膜炎、肾脏损害、神经系统损害、血液系统损害、血管炎等未见与特定等位基因及单体型相关.  相似文献   

6.
目的探讨等位基因HLA-DQA1及DQB1在国人Graves′病(graves′disease,GD)发病中的作用.方法选择汉族GD患者103例及正常人100例.采用PCR-SSP方法,检验HLA-DQA1.0501、DQB1.0201及DQB1.0303的出现频率.结果HLA-DQA1.0501及DQB10201 GD组均低于对照组(分别P=0.002,RR=0.38及P=0.001,RR=0.27),DQB1.0303 GD组与对照组之间无差异(P=0.189 RR=0.64).研究提示DQA1.0501、DQB1.0201为中国汉族人群GD的保护因素.以上3种基因在不同性别GD患者之间均未见差异.结论HLA-DQ与国人GD的发病有关.GD患者DQA1.0501及DQB1.  相似文献   

7.
目的研究藏、汉族人群HLA-DQA1、DQB1等位基因频率分布及群体间的遗传距离。方法采用序列特异性引物聚合酶链反应(PCR/SSP)和PCR产物的限制性片段长度多态性分析(PCR/RFLP)方法检测HLA-DQA1、DQB1各等位基因频率。结果结果显示,OQA1*0501和DQB1*0301为藏族常见等位基因,频率分别为23.2%和33.0%;而DQA1、*0301和DQB1,*0301为房山汉族常见等位基因,频率分别为25.O%和28.1%。藏族OQA,*0201,DQB.*0201,0601等位基因频率明显低于汉族人群,P值分别为〈0.005,〈0.025和〈0.01;相反,藏族DQA.*0501和DQB.*0402等位基因频率明显高于汉族人群,P值分别为〈0.005,〈0.025。结论藏族与北方汉族HLA-DQA1、DQB。位点某些等位基因频率分布存在差异,可能与地理环境及自然选择有关。  相似文献   

8.
目的:探讨等位基因HLA-DQA1及DQB1在国人Graves′病(graves′disease,GD)发病中的作用.方法:选择汉族GD患者103例及正常人100例.采用PCR-SSP方法,检验HLA-DQA1.0501、DQB1.0201及DQB1.0303的出现频率.结果:HLA-DQA1.0501及DQB10201 GD组均低于对照组(分别P=0.002,RR=0.38及P=0.001,RR=0.27),DQB1.0303 GD组与对照组之间无差异(P=0.189 RR=0.64).研究提示DQA1.0501、DQB1.0201为中国汉族人群GD的保护因素.以上3种基因在不同性别GD患者之间均未见差异.结论:HLA-DQ与国人GD的发病有关.GD患者DQA1.0501及DQB1.0201出现频率减少.  相似文献   

9.
目的:探讨广西汉族婴幼儿海绵状静脉畸形与HLA-DQA1,DQB1等位基因相关性.方法:用聚合酶链反应-序列特异性引物(PCR-SSP)方法,对广西汉族海绵状静脉畸形患儿52例和汉族健康正常人103例的HLA-DQA1,DQB1基因进行检测分析.结果:与正常对照组相比,广西汉族海绵状静脉畸形患儿HLA-DQA1*0103、DQA1*0401 、DQA1*0601基因频率显著降低(OR=0.883,χ2=5.037,P=0.025;OR=2.856,χ2=4.255,P=0.039,OR=3.459,χ2=4.043,P=0.044).结论:HLA-DQA1*0103、DQA1*0401、DQA1*0601等位基因与广西汉族婴幼儿海绵状静脉畸形的遗传易感性相关联.  相似文献   

10.
目的:研究CD24基因单核苷酸多态性(SNP)位点rs52812045与中国汉族人群系统性红斑狼疮(SLE)的相关性。方法:采用聚合酶链反应及限制性片段长度多态性(PCR-RFLP)方法,对54例SLE患者及70例健康对照者CD24SNP位点rs52812045进行多态性检测。结果:CD24基因位点rs52812045可以检测到T/T、T/C、C/C 3种等位基因分布;系统性红斑狼疮患者和健康对照者CD24基因型T/T的频率分别为29.6%和11.5%,CD24的杂合基因型T/C的分布分别为51.9%和31.4%,基因型C/C的频率分别为18.5%和57.1%。统计学分析,SLE组CD24基因rs52812045位点T等位基因携带者显著高于正常对照组[分别为73.1%和42.9%,χ2=9.318,P<0.05,OR=2.182(1.068-4.458)],T等位基因频率显著高于对照组(分别为44.4%和27.1%,χ2=8.056,P<0.05)。结论:CD24SNP位点rs52812045与中国汉族人群SLE的发病具有显著相关性;CD24SNP位点rs52812045的T等位基因可能是SLE的易感基因之一。  相似文献   

11.
Background Type 1 diabetes (TID) is a multifactorial disease. This article aims to evaluate the relationship between allele polymorphism of HLA-DQ, DR and TID in the Chinese population. Methods The odds ratios (ORs) of HLA-DQ, DR allele distributions in patients with T1D were analyzed against healthy controls. All the relevant studies in Pubmed and CNKI were identified, and poor qualified studies were excluded. The meta-analysis software REVMAN 4.2 was applied for investigating heterogeneity among individual studies and for summarizing all the studies. The publication bias were also evaluated. Results DQA1*0301, DQA1*0501, DQB1*0201, DQB1*0302 were the susceptible alleles (all P 〈0.05) in the Chinese population, their merger ORs 2.40, 3.15, 3.66, and 2.67 respectively. DQA1*0103, DQA1*0201, DQA1*0401, DQB1*0301, DQB1*0402, DQB1 *0501, DQB1*0503, DQB1*0601 and DQB1*0602 were the protective alleles (P 〈0.05), their merger ORs were 0.11, 0.45, 0.30, 0.38, 0.23, 0.37, 0.25, 0.48, and 0.30 respectively. In serum level, DR3, DR4, DR9 alleles were the susceptible alleles (all P 〈0.05) and their merger ORs were 5.58, 1.53, 1.66, 29.78, and 6.65 respectively. HLA-DR2, DR5, and DR7 alleles were the protective alleles (all P 〈0.05) and their merger ORs were 0.39, 0.51, and 0.50. In genetic type level, DRB1*04, DRB1*0301, DRB1*0901 were the susceptible alleles (all P 〈0.05) and their merger ORs were 2.19, 6.43, 1.31, 3.83, and 8.08. DRBI*07, DRBI*08, DRB1*12, DRB1*13, DRB1*14, DRB1*16, DRBI*0406 alleles were the protective alleles (all P 〈0.05) and their merger ORswere 0.44, 0.27, 0.45, 0.13, 0.19, 0.40, and 0.27 respectively. Conclusions In the Chinese population, some HLA-DQ, DR alleles are relevant to T1D which are not totally the same as non-Chinese populations.  相似文献   

12.
Objective To study the relationship between human leukocyte antigen (HLA)-DRB1 and DQ alleles and the genetic susceptibility of type 1 diabetes in North Chinese children. Methods Polymerase chain reaction (PCR) techniques were used to amplify the second exon of DRB1 and DQ alleles, after which sequence specific olignucleotide probe (SSOP) dot blot hybridization techniques were used to analyze the amplified products. Results DRB1*0301, DQA1*0301, DQB1*0201 alleles and DRB1*0301-DQA1*0501-DQB1*0201 haplotype were significantly increased in patients, while DQA1*0103 and DQB1*0601 alleles were significantly increased in controls. The distribution of DR4 and DR9 haplotypes in patients and controls were not significantly different, but DR3/DR4 and DR4/DR9 heterozygotes were significantly increased in patients. Conclusions DRB1*0301, DQA1*0301 and DQB1*0201 confer susceptibility while DQA1*0103 and DQB1*0601 confer protection to type 1 diabetes. DRB1*0301-DQA1*0501-DQB1*0201 haplotype offers a predisposition to type 1 diabetes in North Chinese. Although the distribution of DR4 and DR9 in patients and controls had no significant difference, DR3/DR4 and DR3/DR9 heterozygotes were significantly increased in patients, showing that the susceptive effects of DR3 and DR4 or DR4 and DR9 haplotypes could be added up.  相似文献   

13.
HLA-DQA1, -DQB1, and -DRB1 gene polymorphism were analyzed to study type 1 DM susceptibility in Malay patients from Southeast Asia (Malaysia and Singapore). Patients showed significant increases in the occurrence of DQA1*0501 (50.7% vs. 20.4%; RR = 3.97; Pc < 0.01), DQB1*0201 (48% vs. 19.1%; RR = 3.86; Pc < 0.05), and DRB1*0301 (38.7 vs. 6.8%; RR = 8.36; 95% Pc < 0.05). Conversely, significant decreases were noted in the occurrence of DQA1*0601 (14.7% vs. 35.2%; RR = 0.33; Pc = 0.008) and DQB1*0601 (4% vs. 23.5%; RR = 0.16; Pc < 0.05) in type 1 DM patients. Using a logistic regression model, we derived a risk prediction model for type 1 DM in our indigenous Malay population based on the identified HLA genotypes. The RR for type 1 DM increases by a factor of 5.68 for every unit increase in the number of DRB1*0301 allele (P < 0.001), and decreases by a factor of 0.18 per unit increase in the number of DQB1*0601 allele (P < 0.001). After adjusting for these two HLA genotypes, DQA1*0501, DQB1*0201 and DQA1*0601 were not statistically significant as risk predictors. The lower incidence of type 1 DM in the Malay population may be contributed by the genotypic combinations of DR and DQ genes as well as the linkage disequilibria between susceptible and protective alleles.  相似文献   

14.
目的探讨缓解期系统性红斑狼疮(SLE)病人所生子女罹患SLE的危险性。方法应用实时定量PCR技术检测14例SLE病人、病人子女及18例对照者HLA-DRB1*1501、DRB1*0301、DQA1*0102、DQB1*0602的频率,免疫印迹法检测入组者ENA抗体谱。结果 SLE病人组DQA1*0102频率显著高于对照组(RR=2.02,P<0.05),而两组间DRB1*1501、DRB1*0301、DQB1*0602频率比较差异无显著意义(P>0.05);SLE病人组DQB1*0602频率显著高于其子女组(RR=2.06,P<0.05),而两组间DRB1*1501、DRB1*0301、DQA1*0102频率比较差异无显著性(P>0.05);SLE子女组DQA1*0102频率显著高于对照组(RR=2.14,P<0.05);而两组间DRB1*1501、DRB1*0301、DQB1*0602频率比较差异无显著性(P>0.05)。SLE病人组自身抗体SSA及dsDNA出现频率明显高于对照组(P=0.019、0.015),两组间SSB及Ro-52差异无显著性(P>0.05);SLE病人子女组所测自身抗体检出率为0。结论 HLA-DQA1*0102为SLE的易感等位基因,DQA1*0102有一定的遗传倾向。经过系统治疗达到缓解期的SLE病人生育的子女罹患SLE的危险性无明显增加趋势。  相似文献   

15.
Gao J  Lin Y  Qiu C  Liu Y  Ma Y  Gao J  Liu Y 《中华医学杂志》2002,82(6):379-383
目的:探讨人类白细胞抗原(HLA0-DQA1-DQB1基因多态性与我国北方汉族支气管哮喘患者的相关及连锁关系。方法:采用引物序列特异性聚合酶链反应的方法检测了125例无血缘关系的长期居住在北京及其附近地区的汉族哮喘患者和12个哮喘家系成员183例及96名健康个体HLA-DQA1,-DQB1基因型;用放射变应原吸附法测定哮喘患者血清总IgE(TigE),常见过敏原特异性IgE(户尘螨d1,粉尘螨d2),并进行了哮喘患者支气管舒张试验,乙酰甲胆碱(Mch)气道激发试验。结果:HLA-DQA1*0104基因和HLA-DAB1*0201基因在哮喘组(分别咪0.204,0.284)明显高于健康对照组(分别为0.089,0.096,P<0.01),优势比(OR)分别为3.203(95%CI 1.699-6.037)和5.328(95%CI 2.883-9.849),相反,HLA-DQA1*0301基因和HLA-DQB1*0301基因在哮喘组(0.148,0.20),明显低于健康对照组(0.25,0.282,P<0.01,P<0.05),HAL-DQA1*0401基因与哮喘发病的独立危险因素分析显示P<0.05,OR为5.0942(95%CI1.2252-21.1813),HLA-DQA1*0401基因和HLA-DQB1*0201基因与特应质的相关系数分别为0.183,0.289,P<0.01,而HLA1-DQA*0301等位基因与特应质的相关系数为-0.168,P<0.05,HLA-DQA1,HLA-DQB1基因与哮喘家系连锁分析LOD值<1。结论:HLA-DQA1*0104基因和HLA-DQB1*0201基因与我国北方汉族哮喘者易感性相关,并且HLA-DQA1*0104基因为哮喘发病的独立危险因素,而HLA-DQA1*0301基因和HLA-DQB1*0301基因则与哮喘的抗性相关。HLA-DQ基因对机体的特异性免疫应答有调节作用。  相似文献   

16.
目的: 研究中国江苏地区汉族人群1型糖尿病(T1DM)与人类白细胞抗原(HLA)-DRB1?DQB1基因及单倍型频率的相关性?方法:选取江苏地区汉族人群T1DM患者(112例)与对照组(69例),运用聚合酶链反应-寡核苷酸探针序列特异性引物(PCR-SSO)技术,进行HLA-DRB1?DQB1基因分型,两组间等位基因频率比较采用χ2检验,通过Arlequin软件进行单倍型频率的分析?结果:112名T1DM患者中检测到DRB1位点等位基因17个(对照组19个),DQB1位点等位基因7个(对照组7个)?与对照组相比,T1DM组DRB1*0901?DRB1*0405和DRB1*0301频率明显增高,DQB1位点的DQB1*0201与DQB1*0303频率明显高于对照组;与对照组相比,T1DM患者明显升高的单倍型频率为:DRB1*0901-DQB1*0303?DRB1*0301-DQB1*0201?DRB1*0405-DQB1*0401和DRB1*0405-DQB1*0302?结论:中国江苏地区汉族T1DM患者HLA基因DR位点的DRB1*0901?DRB1*0405?DRB1*0301及DQ位点的DQB1*0201?DQB1*0303对T1DM易感?发现了4个新的具有易感作用的单倍型:DRB1*0901-DQB1*0303?DRB1*0301-DQB1*0201?DRB1*0405-DQB1*0401和DRB1*0405 -DQB1*0302?  相似文献   

17.
R68umeObjectifPourdemontrerleraPPortentrelasuscePtibilitddendPhmpathiemembraneuseidiOPathiquempetHLAhaPlotyPedansunepOPulationShanghaienne.MdthodesAnalysedeHLAgdnotyPiqueethaPlotyPiquechez33casNMet71normaux.RJsuItatsDR9-DQA1*O301,DR4-DQA1*O301,DR12-DQB1*03O1andDR9-DQB1*03O3furentleshaPlotyPeslesplusfrequentsdanslesnormaux.QuantaugrouPeNM,haPlotyPeDR2-DQA1*O101estleplusfrdquentme=12.86)prdsentantunlOrtddsdquilibredechainage.LadofldrenceentrelesdeuxgrouPeseststatistiqu…  相似文献   

18.
目的分析子宫平滑肌瘤与HLA-DRB1、DQA1、DQB1等位基因的相关性,从而探讨子宫平滑肌瘤患者的遗传易 感性。方法 用PCR-SSP及PCR-SSO技术对51例外科手术后病理证实为子官平滑肌瘤患者和50例正常妇女进行 HLA-DRB1、DQA1、DQB1等位基因的基因分型。结果 HLA-DRB1*02,DQA1*0601在子宫平滑肌瘤组明显高于对照 组(P<0.05,RR=5.378,15.4),而DRB1*01、*07,HLA-DQA1*0l02却表现为对照组增高(P<0.05,RR=0.225,0.375, 0.329)。结论DRB1*02、*01、*07,HLA-DQA1*0601、*0102基因与子宫平滑肌瘤的遗传易感性相关联。  相似文献   

19.
目的:探讨HLA-DQA1-DQB1连锁基因单倍体与成人缓慢进展型1型糖尿病(SPIDDM)和速发型1型糖尿病(FPIDDM)的相关性。方法:采用PCR/SSP技术检测本组1型糖尿病中102例SPIDDM患者和130例FPIDDM患者频率。结果:①HLA-DQA1*0301-DQB1*0201和DQA1*0501-DQB1*0201连锁基因单倍体与SPIDDM(Pc〈0.001)和FPIDDM(Pc〈0.001)均呈显著正相关。②HLA-DQA1*0301-DQB1*0301和DQA1*0301-DQB1*0602连锁基因单倍体与SPIDDM呈显著正相关(Pc〈0.001)。③HLA-DQA1*0301-DQB1*0302、DQA1*0301-DQB1*0303及DRB1*0301-DQA1*0301-DQB1*0201连锁基因单倍体与FPIDDM呈显著正相关(均Pc〈0.05);DQA1*0102等位基因中SPIDDM组16例(15.69%);FPIDDM组10例(7.69%)(P〈0.05);DQA1*03基因SPIDDM组47例(46.08%),FPIDDM组79例(60.77%)(P〈0.05);DQB1*0601基因SPIDDM组10例(9.8%),FPIDDM组4例(3.08%)(P〈0.01)。结论:SPIDDM和FPIDDM虽然均为自身免疫性糖尿病,但其HLA表型并不完全相同,不同的HLA表型可能是决定患者起病方式及病情发展不同的因素之一。  相似文献   

20.
目的调查研究了700名广东省汉族人群HLA-DQB1等位基因频率及多态性分布.方法采用深圳益生堂生物企业有限公司研制开发的"HLA-DQB1低分辨率基因分型芯片试剂盒",应用PCR-SSP SSO芯片检测技术,对700名广东省的中国人群进行基因分型.结果鉴定了10个HLA-DQB1等位基因.广东省人群HLA-DQB1等位基因频率分布为HLA-DQB1*05>*0301>*0303>*0601>*02>*0302>*04>*0602>*0604>*0603.结论为我国疾病相关性研究、人类学研究提供了可靠的遗传学参数.  相似文献   

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