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1.
目的 探讨HLA-DR-DQ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 利用PCR/SSP技术检测了52例SPIDDM患者、30例FPIDDM患者和130例正常人的HLA-DR-DQ连锁基因频率。结果 ①HLA-DQA1*0301-DQB1*0201和DQA1*0501-DQB1*0201连锁基因单倍体与SPIDDM(Pc〈0.001)  相似文献   

2.
目的探讨HLADRDQ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。方法利用PCR/SSP技术检测了52例SPIDDM患者、30例FPIDDM患者和130例正常人的HLADRDQ连锁基因频率。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(前二者Pc<0.01,后者Pc<0.001)。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   

3.
目的 探讨HLA-DR.DQ基因多态性与骨关节结核的遗传关联性,比较骨关节结核与肺结核之间易感基因的差异。方法 采用聚合酶链反应-序列特异性引物(PCR-SSP)方法,对86例骨关节结核。88例正常人及34例肺结核的HLA-DR.DQ等位基因进行分析。结果 骨关节结核组与正常人比较,骨关节结核组DRB1*09、DQB1*0301基因频率增高(38.99%比8.24% PC〈0.0001RR=8.9  相似文献   

4.
中国汉族系统性红斑狼疮某些易感基因的研究   总被引:12,自引:0,他引:12  
为了探索我国北方汉族人群人类白细胞抗原-DR(HLA-DR)及肿瘤坏死因子B(TNFB)等位基因多态性与系统性红斑狼疮(SLE)的易感性关系,对106例健康人和45例SLE患者的HLA-DR和对80例健康人及45例SLE患者的TNFB等位基因,采用多聚酶链反应-限制性酶切片段长度多态性(PCR-RFLP)法进行分析。结果显示:SLE患者中频率显著升高的等位基因有DR2[P<0.05,相对危险性(RR)=1.56]及DR3(P<0.01,RR=2.69)。而DR5和对照相比呈相反结果(P<0.05,RR=0.43)。SLE患者TNFB*2等位基因频率显著增高(P<0.05,RR=1.84)。提示DR2、DR3、TNFB*2可能是易感等位基因或易感等位基因标记,而DR5是一拮抗等位基因或拮抗等位基因标记。并研究了HLA-DR、TNFB等位基因与患者血浆中S蛋白和补体5b-9结合物的复合物(SC5b-9)的水平和多种自身抗体及狼疮肾炎、狼疮肺炎、狼疮脑病等狼疮并发症之间的相关性,发现HLA-DR2基因与狼疮肾炎的发生存在正相关(P<0.05,RR=1.32)。  相似文献   

5.
目的:观察人类白细胞相关抗原HLA-DR2,DRB1*0301,DQA1*0501基因频率为多发性肌炎/皮肌炎(PM/DM)发病及其临床表现的关系,方法:特异性引物聚合酶链式反应(PCR-SSP)方法分别测定了31例PM/DM患者及50例正常人的HLA-DR2,DRB1*0301及HLA-DAQ1*0501的基因频率,结果:三种基因型在31例肌炎患得中基频率分别为:6.45%,9.68%和77.4  相似文献   

6.
目的 探讨HLA-DR.DQ基因多态性与骨、关节结核的遗传关联性,比较骨、关节结核与肺结核之间易感基因的差异。方法 采用聚合酶链反应一列特异引物(PCR-SSP)方法,对86例骨、关节结核,88例正常人及34例肺结核的HLA-DR.DQ闰基因进行分析。结果 骨、关节结核组与正常人比较,骨、关节结核组DRB1^*09 DQB1^*0301基因频率增高(38.99%比8.24% PC〈0.001 RR  相似文献   

7.
汉族类风湿关节炎患者HLA—DR和—DQ基因分型研究   总被引:20,自引:0,他引:20  
为探讨HLA-DR和-DQ等位基因与我国汉族类风湿关节炎(RA)的相关性,采用聚合酶链反应-限制性内切酶片段长度多态性分析(PCR-RFLP)方法对汉族人群中35例RA患者和100名健康人的DR和DQ位点进行DNA定型分析。结果发现,DR4频率在正常人为24.0%,在RA患者为51.4%(P<0.01,RR=3.30);DR4亚型位点分析发现2组均以DRB1*0405占多数,但DRB1*0405频率在RA组为31.4%,高于正常人的10.0%(P<0.01)。DQ4频率在全部RA患者为37.1%,在DR+4RA患者为72.2%,均高于全部正常人的10.0%(P<0.01)和DR+4正常人的41.6%(P=0.0376);DR+4-DQ+4RA患者的病情重于DR-4患者。结果提示,DR4、主要是DRB1*0405与RA相关,DQ4可增加DR4对RA的易感性,DR+4-DQ+4单倍型是RA病情严重程度的标志。  相似文献   

8.
慢性淋巴细胞性甲状腺炎与HLA-DQ位点基因的相关性分析   总被引:8,自引:0,他引:8  
目的分析汉族慢性淋巴细胞性甲状腺炎(CLT)与HLADQ位点基因多态性的相关性。方法用序列特异性引物的聚合酶链反应(PCRSSP)方法,分析30例由病理证实的我国汉族CLT患者及24名正常对照的外周血白细胞基因组DNA的HLADQA1及DQB1位点的基因多态性分布。结果在CLT组中,DQA10301的等位基因频率显著高于对照组(P<0.02,RR=700),而DQB10602的频率则明显低于对照组(P<0.01,RR=0.095)。结论HLADQA10301可能与CLT的易感性相关,而DQB10602可能与CLT的抗性相关,在HLADQ位点存在有易感及抗性的双重作用,等位基因之间的共同作用可能是影响CLT发生的重要因素之一。  相似文献   

9.
系统性红斑狼疮多发家系与HLA致病单倍型研究   总被引:3,自引:0,他引:3  
目的 探讨系统性红斑狼疮(SLE)的发病机制和分子遗传基础。方法 用聚合酶链反应结合顺序特异的寡核苷酸(PCR/SSO)探针杂交方法对5个SLE多发家系和80例无亲缘关系的SLE患者HLA-DR、DQ亚区作DNA分型。结果 发现SLE中HLA-DRB1*1501,DQA1*0102等位基因频率及HLA-DRB1*1501,DQA1*0102,DQB1*0602单倍型频率均显著升高,提示该单倍型可能  相似文献   

10.
目的:探讨HLADQB1等位基因与系统性红斑狼疮(SLE)及其自身抗体的相关性。方法:采用PCR/SSP技术对52例中国湖北地区汉族SLE患者及143例正常对照者进行了HLADQB1基因分型,并采用免疫印迹技术检测患者血清中自身抗体。结果:SLE患者DQB10608(962%,χ2=1051,P<0005)基因频率显著升高,DQB10302(577%,RR=026P<005,PF=014)和DQB10501(192%,RR=011,P<001,PF=013)基因频率显著降低,与正常对照组比较,DQB10608在伴抗Sm(1034%,P<0005)、抗RNP(1154%,P<0005)、抗dsDNA(2222%,P<0005)抗体阳性的SLE患者中频率显著升高。结论:DQB10608与SLE关联,并分别与抗Sm、抗RNP、抗dsDNA抗体的产生有相关性。而DQB10302、DQB10501等位基因对SLE可能具有保护性。  相似文献   

11.
HLA-DQ等位基因与哮喘相关性研究   总被引:18,自引:0,他引:18  
目的探讨在中国汉族哮喘家系中,HLA-DQ基因与哮喘的相关性。方法对98例哮喘家系成员,用PCR-序列特异性引物(PCR-SSP)技术对HLA-DQA1和B1进行基因分型,并与正常对照进行比较。结果发现DQA1*0101和DQA1*0601等位基因频率在哮喘患者组(40.0%,45.0%)较正常对照组(16.4%,13.4%)显著升高(χ2=6.1860,P<0.05,RR=3.39;χ2=11.6090,P<0.01,RR=5.27);DQB1*0303和DQB1*0601等位基因频率在哮喘患者组(55.0%,47.5%)较正常对照组(13.7%,13.7%)显著升高(χ2=15.7400,P<0.01,RR=7.68;χ2=10.9300,P<0.01,RR=5.69)。同时发现HLA-DQB1*0201等位基因频率在对屋尘螨抗原特异性IgE反应哮喘家系成员(39.4%)较家系中非特应症者(12.0%)显著高频表达(t=2.3825,P<0.05)。结论HLA-DQA1*0101,*0601和DQB1*0303,*0601是哮喘遗传易感等位基因;HLA-DQB1*0201限定对屋尘螨抗原特异性IgE反应。  相似文献   

12.
AIM To study the genetic susceptibility of HLA-DQA1 alleles to duodenal ulcer in Wuhan Hans.METHODS Seventy patients with duodenal ulcer and fifty healthy controls were examined for HLA-DQA1 genotypes. HLA-DQA1 typing was carried out by digesting the locus specific polymerase chain reaction amplified products with alleles specific restriction enzymes (PCR-RFLP), i.e., Apal Ⅰ, Bsaj Ⅰ, Hph Ⅰ, Fok Ⅰ,Mbo Ⅱ and Mnl Ⅰ.RESULTS The allele frequencies of DQA1 * 0301 and DQA1* 0102 in patients with duodenal ulcer were significantly higher and lower respectively than those in healthy controls (0.40 vs 0.20,P=0.003, Pcorret = 0.024) and (0.05 vs 0.14,P= 0.012, but Pcorret >0.05), respectively.CONCLUSION DQA1* 0301 is a susceptible gene for duodenal ulcer in Wuhan Hans, and there are immunogenetic differences in HLA-DQA1 locus between duodenal ulcer patients and healthy controls.  相似文献   

13.
The transmission disequilibrium test was used to analyze haplotypes for association and linkage to diabetes within families from the Human Biological Data Interchange type 1 diabetes repository (n = 1371 subjects) and from the Norwegian Type 1 Diabetes Simplex Families study (n = 2441 subjects). DQA1*0102-DQB1*0602 was transmitted to 2 of 313 (0.6%) affected offspring (P < 0.001, vs. the expected 50% transmission). Protection was associated with the DQ alleles rather than DRB1*1501 in linkage disequilibrium with DQA1*0102-DQB1*0602: rare DRB1*1501 haplotypes without DQA1*0102-DQB1*0602 were transmitted to 5 of 11 affected offspring, whereas DQA1*0102-DQB1*0602 was transmitted to 2 of 313 affected offspring (P < 0.0001). Rare DQA1*0102-DQB1*0602 haplotypes without DRB1*1501 were never transmitted to affected offspring (n = 6). The DQA1*0101-DQB1*0503 haplotype was transmitted to 2 of 42 (4.8%) affected offspring (P < 0.001, vs. 50% expected transmission). Although DRB1*1401 is in linkage disequilibrium with DQB1*0503, neither of the two affected children who carried DQA1*0101-DQB1*0503 had DRB1*1401. However, all 13 nonaffected children who inherited DQA1*0101-DQB1*0503 had DRB1*1401. In a case-control comparison of patients from the Barbara Davis Center, DQA1*0101-DQB1*0503 was found in 5 of 110 (4.5%) controls compared with 3 of 728 (0.4%) patients (P < 0.005). Of the three patients with DQB1*0503, only one had DRB1*1401. Our data suggest that both DR and DQ molecules (the DRB1*1401 and DQA1*0102-DQB1*0602 alleles) can provide protection from type 1A diabetes.  相似文献   

14.
OBJECTIVES: To investigate HLA-DRB1, DQA1 and DQB1 allelic polymorphism in Iranian patients with pulmonary tuberculosis (PTB). METHODS: Forty patients with smear-positive PTB and 100 healthy individuals as a control group were studied for MHC class II allelic polymorphism by polymerase chain reaction with sequence-specific primers (PCR-SSP). The primer was supplied by biotest in the standard kit. DRB low resolution SSP and DQA, DQB intermediate resolution SSP was applied. RESULTS: The comparison of the patients and the control group showed a significant increase in the frequency of the HLA-DRB1*07 and DQA1*0101 alleles (OR 2.7, 95%CI 1.19-6.13, P = 0.025 and OR 2.66, 95%CI 1.15-6.44, P = 0.04, respectively) in the patient group. The frequency of DQA1*0301 and DQA1*0501 was also significantly decreased (OR 0.254, 95%CI 0.075-0.865, P = 0.033 and OR 0.53, 95%CI 0.3-0.95, P = 0.045, respectively) in the PTB patients. Concerning haplotype frequency, DRB1*11501, QDQA1*0103 and DQB1*0601 were increased, but this difference was not statistically significant. In the DQB1 locus, DQB1*0501 was non-significantly over-represented. CONCLUSIONS: HLA-DRB1*07 and HLA-DQA1*0101 appeared to be the predisposing alleles and HLA-DQA1*0301 and 0501 the protective alleles in our patients with TB.  相似文献   

15.
To further investigate a clinical impression that patients with early onset pauciarticular juvenile rheumatoid arthritis (EOPA-JRA) who carry HLA-DQw1 have more severe arthritis, we subtyped HLA-DQw1 in American midwestern patients with EOPA-JRA. The HLA-DQA1*0101 subtype was present in 10 of 19 patients who developed persistent polyarticular erosive disease compared with 18 of 92 healthy controls (chi 2 = 9.13, p = 0.003, RR = 4.6), and occurred more frequently in this polyarticular group than in patients without polyarticular erosive disease (chi 2 = 4.11, p = 0.040, RR = 3.0). The presence of HLA-DQA1*0101 was significantly lower in patients with chronic iridocyclitis than in patients without chronic iridocyclitis (chi 2 = 7.07, p = 0.008, RR = 0.21). In HLA-DQA1*0101 positive patients, DNA sequences of the beta-1 domain of the HLA-DQ alpha and HLA-DQ beta genes (HLA-DQA1*0101, HLA-DQB1*0501 and HLA-DQB1*0503) were identical to those in controls. In this midwestern EOPA-JRA population, HLA-DQA1*0101 or genes in linkage disequilibrium with it, are associated with a cohort of patients with EOPA-JRA with distinct clinical characteristics.  相似文献   

16.
To investigate the role of HLA-DQA1 genotypes and their interaction with HLA-DRB1 in the pathogenesis of rheumatoid arthritis (RA) in Taiwan, HLA-DQA1 was determined in 71 patients with RA and 108 healthy controls by SSP-PCR method. HLA-DRB1 and HLA-DQA1 were simultaneously detected in 55 RA patients and 101 healthy controls. PCR/SSOP method was used to determine the HLA-DRB1 genotypes, and the subtypes of HLA-DR4 were determined by cloning and sequencing. The phenotypic frequency of HLA-DQA1*0301 was significantly lower in RA than in controls, and, in contrast, the HLA-DQA1*0302 and DQA1*0303 were significantly higher in RA than in controls. The associations of DQA1*0301, *0302, and *0303 with RA were independent of DR4 and DRB1*0405. Moreover, the interactions between HLA-DR4 and HLA-DQA1*0302 or DQA1*0303 could enhance the development of RA. We also found that the prevalence of bone erosion and seropositivity of rheumatoid factor (RF) were significantly higher in HLA-DQA1*0303 positive RA patients than in healthy controls. HLA-DQA1*0302 and DQA1*0303 are the risk factors for susceptibility to RA, while HLA-DQA1*0301 is a protective factor. A synergistic effect for the susceptibility to RA can be found between HLA-DR4 and HLA-DQA1*0302 or DQA1*0303. We also found that the HLA-DQA1*0303 was related to bone erosion and seropositivity of RF in RA patients.  相似文献   

17.
Background: Myasthenia gravis is an autoimmune disorder of neuromuscular junction characterized by skeletal muscle weakness and fatigability. Different genes may control the induction and clinical presentation of this disease. Various HLA alleles are reported as predisposing or protective genetic elements in myasthenia gravis. Objective: The aim of this study was to investigate the probable association between HLA-DQ alleles and myasthenia gravis in southern Iranian patients. Methods: HLA-DQA1 and DQB1 alleles were determined in 104 sporadic patients with myasthenia gravis using polymerase chain reaction - restriction fragment length polymorphism method and the results were compared to 816 healthy controls. Results: HLA-DQA1*0101/2 (39.4%) and DQB1*0502 (21.6%) were the most frequent alleles in southern Iranian patients with myasthenia gravis. These alleles revealed positive associations with the disease with relative risks of 1.69 and 2.41, respectively. The most common haplotype was DQA1*0101/2-DQB1*0502 in these patients. Conclusion: According to the results of this study, DQA1*0101/2 and DQB1*0502 alleles might be considered as predisposing genetic factors to myasthenia gravis while DQA1*0501, DQB1*0301 and *0602/3 show protective roles against this disease.  相似文献   

18.
中国人群1型糖尿病HLA-DQ基因多态性的Meta分析   总被引:7,自引:0,他引:7  
目的 综合评价中国人群HLA DQ基因多态性与 1型糖尿病 (DM)的关联性。方法 以 1型DM组和健康对照组的各HLA DQ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分析软件包REVMAN4. 2,在基因分型水平上,对各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 等位基因DQA1* 0301、DQA1* 0501、DQB1* 0201、DQB1* 0303、DQB1* 0401和DQB1* 0604是中国人群 1型DM的危险基因 (均P<0. 05), 他们的合并OR值分别为2. 83、2. 90、4. 17、1. 65、2. 00和 3. 00;基因型 (或单倍型 )DQA1* 0301 /DQB1* 0201、DQA1* 0301 /DQB1*0302、DQA1* 0501 /DQB1* 0201、DQA1* 0301 /DQB1* 0201 /DRB1* 0301和DQB1* 0302 /DRB1* 0405是中国人群 1型DM的危险基因型(或单倍型,均P<0. 05),他们的合并OR值分别为 8. 95、3. 09、6. 01、6. 57和 14. 85。而等位基因DQA1* 0101、DQA1* 0102、DQA1* 0103、DQA1* 0104、DQA1* 0201、DQA1* 0401、DQA1* 0601、DQB1* 0301、DQB1* 0501、DQB1* 0503、DQB1* 0601和DQB1* 0602是中国人群 1型DM的保护等位基因(均P<0. 05),他们的合并OR值分别为 0. 47、0. 38、0. 21、0. 07、0. 44、0. 39、0. 44、0. 19、0. 33、0. 32、0. 42和 0. 28; 基因型  相似文献   

19.
风湿性心脏病细胞免疫功能的初步研究   总被引:1,自引:0,他引:1  
观察41例风湿性心脏病(RHD)和44例RHD伴风湿活动患者的细胞免疫功能。风湿活动组主要改变为T、B淋巴细胞增多,CD_4细胞显著增加,自然杀伤细胞活性增强,提示细胞免疫功能异常亢进,且发生自身免疫反应。RHD组亦有持续的细胞免疫反应。  相似文献   

20.
AIM: To investigate the association between the polymorphism of HLA-DRB1, -DQA1 and -DQB1 alleles and viral hepatitis B. METHODS: HLA-DRB1, -DQA1 and -DQB1 alleles in 54 patients with chronic hepatitis B, 30 patients with acute hepatitis B and 106 normal control subjects were analyzed by using the polymerase chain reaction/sequence specific primer (PCR/SSP) technique. RESULTS: The allele frequency of HLA-DRB1*0301 in the chronic hepatitis B group was markedly higher than that in the normal control group (17.31% vs 5.67 %), there was a significant correlation between them (X^2= 12.3068,PC=0.0074, RR=4.15). The allele frequency of HLA-DQAI*0501 in the chronic hepatitis B group was significantly higher than that in the normal control group (25.96 % vs 13.68 %), there was a significant correlation between them (X^2=9.2002, PC=0.0157, RR=2.87). The allele frequency of HLA-DQBI*0301 in the chronic hepatitis B group was notably higher than that in the normal control group (35.58 % vs 18.87 %), there was a significant correlation between them (x^2=15.5938, PC=0.0075, RR=4.07). The allele frequency of HLA-DRB1*1101/1104 in the chronic hepatitis B group was obviously lower than that in the normal control group (0.96 % vs 13.33 %), there was a significant correlation between them (X^2=11.9206, PC=0.0145, RR=18.55). The allele frequency of HLA-DQAI*0301 in the chronic hepatitis B group was remarkably lower than that in the normal control group (14.42 % vs30 %), there was a significant correlation between them (X^2=8.7396, PC=0.0167, RR=0.35). CONCLUSION: HLA-DRBI*0301, HLA-DQAI*0501 and HLA-DQBI*0301 are closely related with susceptibility to chronic hepatitis B, and HLA-DRB1*1101/1104 and HLA-DQAI*0301 are closely related with resistance to chronic hepatitis B. These findings suggest that host HLA class Ⅱ gene is an important factor determining the outcome of HBV infection.  相似文献   

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