云南汉族多形性日光疹与HLA-DQB1、DPB1等位基因相关性研究

[摘要] 目的 探讨多形性日光疹（PLE）的发生与HLA-DQB1、DPB1等位基因的关系。方法：应用聚合酶链反应-直接测序法（PCR-SBT）的方法对38例PLE患者和45例健康人进行HLA-DQB1、DPB1等位基因的检测。结果：共检测出11种HLA-DQB1及9种DPB1等位基因,实验组中分别检出9种DQB1及8种DPB1等位基因,对照组分别检出11种DQB1和9种DPB1。其中DQB1*050301等位基因与PLE呈正相关（χ2=5.691,P<0.05）,实验组DPB1*0501频率较对照组升高,但差异无统计学意义。结论：HLA-DQB1*050301可能是云南汉族PLE的易感等位基因,未发现HLA-DPB1可能的易感或保护基因。     

HLA-DQ/DP等位基因与粤籍汉族斑秃及中医证型的相关性研究

目的探讨HLA-DQ/DP等位基因与粤籍汉族斑秃及中医证型的相关性。方法采用聚合酶链反应-序列特异性引物(PCR-SSP)分型技术,对51例粤籍汉族斑秃患者的HLA-DQ/DP等位基因进行检测,并与110名粤籍汉族健康人群进行对照。结果 HLA-DQA1*0201、DQA1*0601、DQB1*0501、DQB1*0602、DPA1*0103基因频率斑秃组显著高于对照组,有极显著性差异(P0.05或P0.01);DQB1*0301、DPA1*0201基因频率斑秃组显著低于对照组(P0.05);DQA1*0301气血两虚证基因频率显著高于其他证型(P0.05)。结论 HLA-DQA1*0201、DQA1*0601、DQB1*0501、DQB1*0602、DPA1*0103可能是斑秃的易感基因,DQB1*0301、DPA1*0201可能是斑秃的保护基因,DQB1*0301主要与重型组有关,DQB1*0501、DPA1*0103则与轻型组相关,DQA1*0301可能是气血两虚证的易感基础。     

壮族人寻常性银屑病与HLA-DQA1和DQB1基因的相关性研究

[摘要]目的：探讨广西壮族人寻常型银屑病的发病与HLA-DQA1和DQB1基因的关联。方法：应用聚合酶链式反应-序列特异引物（PCR-SSP）法对58例壮族寻常型银屑病患者和102例健康壮族人的HLA-DQA1和DQB1座位进行基因分型，比较两组相应等位基因的频率。结果：HLA-DQB1*0303与壮族银屑病患者呈显著的正相关（OR=4.540，p=0.004），而HLA-DQA1*0501和HLA-DQB1*0301与壮族银屑病患者呈显著的负相关（OR=0.189，p=0.000；OR=0.367，p=0.018）。结论：以上3个HLA-DQ等位基因与广西壮族人寻常型银屑病的关系密切，其中HLA-DQB1*0303可能为该人群银屑病的易感因子，而HLA-DQA1*0501和HLA-DQB1*0301则可能对银屑病有抵抗作用。     

HLA-DQA1*0302、DQB1*0303与新疆维吾尔族白癜风的相关性研究

目的 探讨HLA-DQA1、DQB1等位基因与新疆维吾尔族白癜风相关性。方法 聚合酶链反应-序列特异性引物（PCR-SSP）检测300例维吾尔族白癜风患者HLA-DQA1*0302、DQB1*0303等位基因。结果 与300例维吾尔族正常人对照组相比,①白癜风患者DQA1*0302（20.5%比13.83%）、DQB1*0303（30.17%比13.33%）等位基因频率显著增高（P ＜ 0.01）;②HLA-DQA1*0302、DQB1*0303等位基因频率在成人型（发病年龄 ＞ 12岁）及儿童型（发病年龄≤12岁）的白癜风患者中均增高（P ＜ 0.01）;③HLA-DQB1*0303等位基因频率在有、无家族史的白癜风患者中均增高（P ＜ 0.01）,HLA -DQA1*0302等位基因频率在无家族史病例中显著增高（P ＜ 0.01）;④白癜风组儿童型和成人型两组间比较及有、无家族史两组间比较,DQA1*0302、DQB1*0303等位基因频率差异无统计学意义（P > 0.05）。 结论 HLA-DQA1*0302、DQB1*0303等位基因可能与新疆维吾尔族白癜风相关,儿童型和成人型及有、无家族史的白癜风在其遗传背景上可能存在异质性。     

内蒙古汉族大疱性类天疱疮与HLA-DRB1和DQB1基因相关性分析

目的探讨内蒙古汉族大疱性类天疱疮与HLA-DRB1和DQB1基因相关性。方法采用聚合酶链反应-序列特异性引物技术(PCR-SSP),检测内蒙古汉族大疱性类天疱疮患者及内蒙古汉族正常人HLADRB1和DQB1基因分型,并统计分析。结果 HLA-DQB1*0301等位基因在大疱性类天疱疮患者组出现频率显著高于对照组(Pc0.05),HLA-DRB1*16和DQB1*0501等位基因在大疱性类天疱疮患者中出现频率显著低于对照组(Pc0.05)。结论 HLA-DQB1*0301可能是内蒙古汉族大疱性类天疱疮患者的遗传易感基因,而HLA-DRB1*16和DQB1*0501可能是内蒙古汉族大疱性类天疱疮患者的保护基因。     

HLA-DQA1及DQB1等位基因与寻常型银屑病遗传易感性研究

目的 探讨HLA-DQA1和DQB1等位基因与汉族人寻常型银屑病遗传易感性。方法 利用聚合酶链反应-序列特异引物(PCR-SSP)法,对189例银屑病患者和273例健康人的HLA-DQA1和DQB1等位基因进行检测。结果 ①HLA-DQA1*0104和DQA1*0201与汉族人银屑病呈正相关性(Pc<0.05);DQA1*0501与汉族人银屑病呈负相关(Pc<0.001).②HLA-DQA1*0104、DQA1*0201和DQA1*0501等位基因与Ⅰ型银屑病发病有关。③HLA-DQA1*0104和DQA1*0201等位基因在有家族史和无家族史患者中的频率显着性增高。HLA-DQA1*0501仅在无家族史银屑病患者中显着性下降。结论 ①HLA-DQA1*0104和DQA1*0201可能是银屑病的易感基因或与易感基因相连锁;DQA1*0501等位基因可能具有阻止汉族人发生银屑病的作用。②有家族史和无家族史银屑病患者在其遗传背景上可能存在差异。     

兰州地区汉族寻常型、关节病型银屑病与HLA-DQB1*0201相关性研究

目的:分析兰州地区汉族寻常型、关节病型银屑病与HLA-DQB1*0201等位基因的相关性.方法:采用聚合酶链反应-序列特异引物(polymerase chain reaction sequence specific primers, PCR-SSP)法检测41例寻常型银屑病患者、27例关节病型银屑病患者和52名健康对照的等位基因频率.结果:寻常型银屑病患者组HLA-DQB1*0201等位基因频率较正常对照组显著增高;关节病型银屑病患者组HLA-DQB1*0201等位基因频率较正常对照组显著增高.结论:HLA-DQB1*0201等位基因可能是兰州地区汉族寻常型、关节病型银屑病的遗传标志.     

山东地区汉族寻常型银屑病与HLA-DRB1、DQB1等位基因的相关性研究

目的：探讨HLA-DRB1、DQB1位点基因与山东地区汉族寻常型银屑病的相关性。方法：用序列特异性引物-聚合酶链反应（PCR-SSP）方法,对98例山东汉族寻常型银屑病患者进行了HLA-DRB1、DQB1等位基因的分型,并分析了上述基因在各组中的分布。结果：寻常型银屑病患者组HLA-DRB1＊07、DQB1＊0201等位基因频率较正常对照组显著增高;I型寻常型银屑病HLA-DRB1＊07、DQB1＊0201等位基因频率较正常对照组显著增高;II型寻常型银屑病HLA-DRB1＊10基因频率较正常对照组显著增高。结论：HLA-DRB1＊07,HLA-DQB1＊0201和HLA-DRB1＊10可能是山东地区汉族寻常型银屑病的易感相关基因。     

HLA-DQA1和HLA-DQB1等位基因与皖籍汉族人群白癜风的相关性

目的 探讨HLA-DQA1、-DQB1等位基因与皖籍汉族人群白癜风的相关性。方法 采用聚合酶链反应-序列特异性引物(PCR-SSP)方法,检测白癜风患者的HLA-DQA1、-DQB1等位基因。结果 与正常人对照组比较,①白癜风患者HLA-DQA1*0302、-DQB1*0303、-DQB1*0503等位基因频率显著升高,HLA-DQA1*0501等位基因频率显著降低;②HLA-DQA1*0302、-DQA1*0601、-DQB1*0303、-DQB1*0503等位基因频率在儿童型白癜风患者中显著升高,HLA-DQA1*0501等位基因频率显著下降;而成人型白癜风患者HLA-DQB10303等位基因频率显著升高;③HLA-DQA1*0302、-DQB1*0303、-DQB1*0503等位基因频率在泛发型白癜风患者中显著升高,HLA-DQA1*0501等位基因频率显著下降;而局限型白癜风患者HLA-DQB1*0303等位基因显著升高。结论 HLA-DQA1*0302、-DQA1*0601、-DQB1*0303、-DQB1*0503、-DQA1*0501等位基因可能与白癜风相关,不同类型白癜风在其遗传背景上可能存在异质性。     

广东汉族白癜风与HLA-Ⅱ类基因相关性研究

目的:确定广东籍汉族白癜风发病与HLA-Ⅱ类基因的相关性。方法:采用聚合酶链反应-序列特异性引物(PCR-SSP)技术,对57例广东籍汉族各型白癜风患者和60例健康对照者静脉血样本HLA-DR,DQ等位基因多态性进行研究。结果:白癜风患者DR7(DRB1*0701)等位基因频率显著升高(RR=6.213,Pc0.05),DRw52(DRB3*0101/02 DRB3*0201 DRB3*0301),DRw53(DRB4*0101/03/05)和DRw51(DRB5*0101/02 DRB5*0202)基因频率明显低于正常对照组,以上三者两组间比较均有显著性差异(Pc0.05)。白癜风患者DQ5(DQB1*0501-04)基因频率显著高于正常对照组(Pc0.05);DQ4(DQB1*0401/02)基因频率显著低于正常对照组(Pc0.05)。结论:提示HLA-DR7(DRB1*0701)等位基因可能与广东籍汉族白癜风的发病有关。DRw52(DRB3*0101/02 DRB3*0201 DRB3*0301),DRw53(DRB4*0101/03/05)和DRw51(DRB5*0101/02 DRB5*0202)对白癜风发病可能有一定保护作用。DQ5(DQB1*0501-04)可能为白癜风患者的易感基因。     

特应性皮炎与HLA-DRB1 DQB1基因的相关性研究

目的探讨HLA-DRB1和DQB1位点基因与汉族特应性皮炎的相关性。方法用序列特异性引物-聚合酶链反应(PCR-SSP)方法,对59例特应性皮炎患者(来自27个家系)和60例正常对照者进行了HLA-DRB1和DQB1等位基因的分型,并分析了DRB1和DQB1基因在各组中的分布。结果特应性皮炎患者组DRB1*15,DR7,DQB1*0601等位基因频率较正常对照组增高(P<0.05);特应性皮炎患者组DQB1*0302频率较正常对照组降低(P<0.05)。特应性皮炎家系成员中对屋尘螨抗原皮试阳性者HLA-DR7等位基因频率较皮试阴性者均显著增高(P<0.05)。结论特应性皮炎的发病可能与DRB1*15,DR7,DQB1*0601相关;DQB1*0302对特应性皮炎的发病可能起保护作用。HLA-DR7在限定对屋尘螨抗原特异性IgE反应过程中起重要作用。     

DNA sequence analysis and restriction fragment length polymorphism (RFLP) typing of the HLA-DQw2 alleles associated with dermatitis herpetiformis.

Dermatitis herpetiformis (DH) is a blistering autoimmune skin disease associated with a 95-100% incidence of the HLA class II antigen HLA-DQw2. Although the precise role of this antigen in the pathogenesis of DH is unclear, one theory proposes that patients with DH possess a molecularly unique subtype of the HLA-DQw2 antigen that causes immune abnormalities eventuating in the clinical manifestations of DH. To test this hypothesis, we performed DNA sequence analysis on the highly polymorphic HLA-DQB1 and HLA-DQA1 loci of eight patients with dermatitis herpetiformis. All DQB1 alleles sequenced were identical to the previously described HLA-DQB*0201 allele from HLA-DQw2 normal subjects. In addition, DQA1 alleles sequenced were identical to those alleles previously associated with HLA-DQw2 (DQA*0201, DQA*0501). These data document that although HLA-DQw2 appears to be a necessary element in the pathogenesis of DH, the development of DH is not dependent on the presence of a unique HLA-DQw2 antigen. HLA-DQ allelic typing by restriction fragment length polymorphism analysis of PCR-amplified HLA-DQA1 and HLA-DQB1 fragments was also performed in ten patients with DH to determine the allelic distribution among both HLA-DR3 (eight patients) and non-DR3 (two patients) DH patients. At the HLA-DQ beta chain locus, all patients possessed the DQB1*0201 allele. At the HLA-DQ alpha chain locus, all HLA-DR3 patients and one non-DR3 patient displayed a pattern consistent with the DQA1*0501 allele, whereas one non-DR3 patient displayed a pattern consistent with the DQA1*0201 allele. These data document that patients with DH do not express a unique HLA-DQw2 heterodimer, that the HLA-DQw2 molecules present in patients with DH have no DNA sequence differences from those found in normal HLA-DQw2 subjects and therefore that susceptibility to DH is not due to a unique HLA-DQw2 molecule.     

HLA-DQA1 and DQB1 alleles are associated with genetic susceptibility to psoriasis vulgaris in Chinese Han

BACKGROUND: Psoriasis vulgaris is a chronic skin disorder characterized by infiltration of inflammatory elements, keratinocyte hyperproliferation and altered differentiation. Although the pathogenesis of psoriasis is not fully understood, there is solid evidence of a susceptibility locus in the human leukocyte antigen (HLA) region. OBJECTIVES: To investigate whether HLA-DQA1 and DQB1 alleles are associated with genetic susceptibility to psoriasis vulgaris in Chinese Han. PATIENTS AND METHODS: The polymerase chain reaction-sequence-specific primer (PCR-SSP) method was used to analyse the distribution of HLA-DQA1 and DQB1 alleles in 189 patients with psoriasis and 273 healthy controls. RESULTS: The HLA-DQA1*0104 (OR = 2.33, P = 0.0001154, Pc = 2.0 x 10-3), DQA1*0201 (OR = 3.36, P < 1.0 x 10-7, Pc < 1.0 x 10-6), DQB1*0201 (OR = 1.64, P = 0.0192, Pc > 0.05) and DQB1*0303 (OR = 1.55, P = 0.0377, Pc > 0.05) alleles were more prevalent in patients with psoriasis vulgaris than in controls, and HLA-DQA1*0501 (OR = 0.30, P = 0.0000039, Pc < 4.0 x 10-5) alleles were less prevalent. The HLA-DQA1*0104 (OR = 2.42, P = 0.0001159, Pc < 2.0 x 10-3), DQA1*0201 (OR = 3.74, P < 1.0 x 10-7, Pc < 1.0 x 10-6) and DQA1*0501 (OR = 0.30, P = 0.0000374, Pc < 4.0 x 10-4) alleles were only associated with type I psoriasis. HLA-DQA1*0104 and DQA1*0201 were more prevalent in patients with or without a family history of psoriasis. However, the DQA1*0501 allele was only more prevalent in patients without a family history of psoriasis. CONCLUSION: HLA-DQA1*0104 and DQA1*0201 alleles may be psoriasis susceptibility genes or may be in close linkage with the susceptibility genes. The HLA-DQA1*0501 allele seems to have a protective effect against the development of psoriasis vulgaris in Chinese Han. There may be a difference in genetic background between psoriasis patients with and without a family history of psoriasis.     

Molecular analysis of HLA DP and DQ genes associated with dermatitis herpetiformis

HLA class II DQ and DP genes from dermatitis herpetiformis patients were amplified and analyzed using molecular probes and compared to those from celiac disease patients and to an HLA and ethnically matched control group. In dermatitis herpetiformis, as in celiac disease, the strongest association of disease was with the DQ subregion alleles DQB1*0201 and DQA1*0501 that are linked to the DRB1*0301 allele. DQB1*0201 determines the DQw2 serologic marker whereas DRB1*0301 determines the DRw17 serologic marker (formerly termed DR3). A DP subregion allele DPB1*0301 was increased and a constellation of DPB1 alleles that included DPB1*0202, *0901, and *1301 was decreased in dermatitis herpetiformis. DPB1*0101, an allele reported to be increased in celiac disease, was not increased in dermatitis herpetiformis. DP beta chains that lack a negatively charged amino acid residue at position 69 of the DP beta chain are significantly over-represented both in dermatitis herpetiformis and celiac disease patients with the DRw17, DQw2 haplotype, compared to healthy controls with that haplotype. These data favor a multigenic model for the contribution of HLA class II D region genes to dermatitis herpetiformis susceptibility. Further, they indicate that a specific DQ molecule, when present in combination with the product of one of several different DPB1 alleles, may contribute to susceptibility to the intestinal lesion, which is common to dermatitis herpetiformis and celiac disease.     

山东地区汉族大疱性类天疱疮与HLA-DR,DQB1基因的相关性研究

目的探讨HLA-DR,DQB1位点基因在大疱性类天疱疮(BP)易感性中的作用。方法用序列特异性引物-聚合酶链反应(PCR-SSP)方法,对49例BP患者及70例正常对照者进行了HLA-DR,DQB1等位基因的分型,并分析了上述基因在两组中的分布。结果与正常对照组比较,BP患者组DRB1*10基因频率明显增高(校正P值<0.05);DRB1*04-DQB1*0302连锁体频率、DRB1*10-DQB1*0501连锁体频率在BP组均显著高于对照组;DRB1*04在黏膜损害及大剂量皮质类固醇激素用量组显著增高。结论HLA-DR10(DRB1*10)可能是中国汉族BP的易感基因。DRB1*04-DQB1*0302连锁体、DRB1*10-DQB1*0501连锁体可能为汉族BP的易感连锁体。     

广东籍汉人HLA-DQA DQB基因与SLE的易感性研究

目的　探讨SLE患者遗传易感性与HLA DQ基因分型的相关性。方法　以广东籍健康者及SLE患者全血为研究标本 ,DNA的提取用快速盐析法 ,HLA DQ基因分型用序列特异性引物 (SSP)法。结果　SLE患者组中DQA1 0 10 1等位基因的检出率明显高于正常组 (RR =3 .12 ,Pc =0 .0 3 6) ,DQA1 0 3 0 2等位基因的检出率则明显低于正常组(RR =0 .0 9,Pc =0 .0 45 ) ;SLE患者组中DQB1 0 3 0 1的检出率明显低于正常组 ,与正常组比较有显著性差异 (P <0 .0 1)。结论　广东籍汉族SLE与HLA DQ的相关性方面 ,DQA1 0 10 1起主导作用 ;广东籍汉族SLE患者中 ,疾病的保护性基因在本研究中表现为DQA1 0 3 0 2、DQB1 0 3 0 1。     

激光包皮环切术治疗伴包皮过长的尖锐湿疣35例疗效分析

目的:探讨CO2激光包皮环切术是否能降低伴包皮过长的尖锐湿疣(CA)患者的复发率。方法:将门诊70例伴有包皮过长CA患者随机分为CO2激光包皮环切手术组与常规治疗对照组各35例,比较其近期及远期复发率。结果:两组治愈后近期复发率手术组为11.4%,对照组为28.6%;远期复发率手术组为14.3%,对照组为42.9%。手术组近期及远期复发率均明显低于治疗组(P<0.05)。结论:CO2激光包皮环切术能有效降低伴有包皮过长CA患者的复发率。