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。     

广西壮族系统性红斑狼疮与HLA-DQA1基因相关性研究

目的　为了探讨广西壮族系统性红斑狼疮 (SLE)与HLA DQA1相关性。方法　用聚合酶链反应 序列特异性引物 (PCR SSP)技术 ,对 5 1例SLE壮族患者和 70例壮族健康人的HLA DQA1基因进行研究。结果　两组均未发现HLA DQA1 0 2 0 1, 0 3 0 2及壮族健康人的DQA1 0 60 1等位基因。SLE组DQA1 0 10 1频率显著高于对照组 (RR =3 .2 72 7,χ2 =7.3 2 1,P =0 .0 0 9) ,而DQA1 0 10 4, 0 3 0 1频率均显著低于对照组 (RR =0 .45 61,χ2 =3 .885 ,P =0 .0 49和RR =0 .43 17,χ2 =4.843 ,P =0 .0 2 8)。结论　DQA1 0 10 1可能是广西壮族SLE易感基因 ,DQA1 0 10 4和DQA1 0 3 0 1可能为保护基因。     

HLA-C基因分型与皖籍汉族人寻常性银屑病关系的研究

目的　探讨皖籍汉族人寻常性银屑病 (PsV )与HLA C等位基因的相关性。方法　运用聚合酶链反应 -序列特异性引物 (PCR SSP)法 ,对 166例皖籍PsV患者和 2 48例健康对照进行HLA C基因分型。结果　①PsV患者组HLA Cw 0 60 2等位基因频率较对照组显著升高 (OR =4.13 ,95 %可信限 2 .3 8～ 7.16,Pc <0 .0 1) ,但HLA Cw 0 3 0 4等位基因频率则较对照组明显减低 (OR =0 .3 2 ,95 %可信限 0 .17～ 0 .60 ,Pc <0 .0 1) ;②早发型PsV (I型银屑病 )及有PsV家族史患者携带HLA Cw 0 60 2等位基因频率分别高于迟发型PsV (II型银屑病 )及无PsV家族史患者 (OR =4.3 2 ,95 %可信限 2 .44～ 7.67,Pc <0 .0 1和OR =13 .2 8,95 %可信限 6.12～ 2 9.11,Pc <0 .0 1)。结论　皖籍汉族人PsV与HLA Cw 0 60 2等位基因高度关联 ,且携带该等位基因的个体易发生早发型银屑病 ,并有家族倾向性。     

结缔组织疾病

广东籍汉人HLA—DQADQB基因与SLE的易感性研究，系统性红斑狼疮患外周血IL—18的表达，系统性红斑狼疮患血清中HHV-8的PCR检测，皖籍汉人HLA．DQAI基因型与SLE相关性研究，褪黑素对系统性红斑狼疮样小鼠的影响，     

有无家族史银屑病环境因素与HLA-DQA1等位基因交互作用的研究

目的　研究银屑病环境危险因素与HLA DQA1等位基因交互作用。方法　采用病例 对照方法调查 176例银屑病患者及 185例健康人环境因素 ,用PCR SSP方法检测HLA DQA1等位基因 ;对环境危险因素与HLA DQA1等位基因交互作用进行研究。结果　①在有及无家族史银屑病中 ,HLA DQA1 0 10 4与受潮存在交互作用 (P <0 .0 5 ,OR>4.0 ) ;在无家族史银屑病中HLA DQA1 0 10 4与饮酒 (P =0 .0 190 ,OR =4.62 )、食鱼虾 (P =0 .0 42 6,OR =2 .82 )存在交互作用。②HLA DQA1 0 2 0 1与食鱼虾 (P =0 .0 0 74,OR =4.72 )仅在无家族史银屑病中存在交互作用。③HLA DQA1 0 5 0 1与受潮 (P =0 .0 0 40 ,OR =10 .5 0 )、食鱼虾 (P =0 .0 3 3 8,OR =5 .41)和精神紧张 (P =0 .0 482 ,OR =8.14 )仅在有家族史银屑病中存在交互作用。结论　HLA DQA1等位基因能增加银屑病环境危险因素发生该病的危险性 ,在有及无家族史银屑病中存在差异。     

云南汉族系统性红斑狼疮患者抗 dsDNA抗体与 HLA-Ⅱ类基因的相关性研究

有研究显示 HLA－ DR、 DQ基因位点与系统性红斑狼疮 (SLE)的发病及某些类型自身抗体的形成密切相关 [1,2]。我们采用聚合酶链反应 (PCR)－序列特异性引物 (SSP)技术进行 HLA－ DRB1、 DQA1、 DQB1基因分型，研究云南汉族 SLE患者抗双链 DNA抗体 (A－ dsDNA)的产生与 HLA－ DRB1、 DQA1、 DQB1等位基因及单倍型的相关性。 一、材料和方法 1.病例和对照：病例组为云南籍汉族 SLE患者 63例，其中男 10例，女 53例，年龄 14～ 60岁，平均 31.3岁，全部病例均符合美国风湿病协会 1982年修订的 SLE诊断标准。所有 SLE患…     

红斑、丘疹及鳞屑性皮肤病

20 0 3 3 2 0 8　 H L A -C基因分型与皖籍汉族人寻常性银屑病关系的研究 /张安平 (安徽医大皮研所 )…∥中国皮肤性病学杂志 .-2 0 0 3 ,1 7(2 ) .-73以聚合酶链反应 -序列特异性引物 (PC R -SSP)法 ,对 1 66例皖籍 P s V 患者和 2 48例健康对照进行 H L A -C基因分型 ,探讨其相关性。结果 :1患者组 H L A -Cw * 0 60 2等位基因频率较对照组显著升高 ,但 * 0 3 0 4等位基因频率则较对照组明显减低。 2早发型 Ps V ( 型银屑病 )及有 P s V家族史患者携带 H L A -C w * 0 60 2等位基因频率分别高于迟发型 Ps V ( 型银屑病 )及无 …     

SLE患者抗U1 RNP抗体与HLA-Ⅱ类基因的相关性分析

目的 探讨云南汉族系统性红斑狼疮（SLE）患者抗U1RNP抗体与HLA－DRB1、DQA1、DQB1等3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63例云南汉族SLE患者进行DRB1、DQA1、DQB1基因分型。结果 抗U1RNP抗体阳性的SLE病人中DQA1＊0101及DR15－DQA1＊0102－DQB1＊0601单体型频率亦显著增高（P＝0．040，P＝0．000）。结论 云南汉族SLE抗U1RNP抗体的产生与DQA1＊0101等位基因及DR15－DQA1＊0102－DQB1＊0601单体型相关。     

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。     

大疱及疱疹性皮肤病

20 0 3 0 91 9　HLA DRB1、DQA1、DQB1基因与上海地区类天疱疮的易感性 /金岩 (复旦大学华山医院皮肤科 )…∥复旦学报 . 2 0 0 3 ,3 0 (1 ) . 2 0～ 2 3采用PCR SSOP方法对上海地区汉族 5 6例BP患者和 1 5 0例健康对照者进行了HLA DRB1、DQA1、DQB1位点等位基因分型。结果发现HLA DRB1 1 0 0 1与DQB1 0 5 0 1紧密连锁 ,其基因频率BP组与对照组比较明显增高 ;DRB1 0 4与DQB1 0 3 0 2紧密连锁 ,其基因频率与对照组比较也明显增高 ;DRB1 1 2基因频率BP组与对照组比较明显降低。因此DRB1 1 0 0 1、DRB1 0 4可…     

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。     

汉族系统性红斑狼疮患者HLA－DQA1位点多态性分析

用聚合酶链反应（ＰＣＲ）结合地高辛标记的顺序特异的寡核苷酸（ＳＳＯ）探针杂交方法对江苏籍汉族系统性红斑狼疮患者和正常对照ＨＬＡ－ＤＱＡ１亚区作寡核苷酸分型。结果显示，与对照组相比，患者组ＤＱＡ１＊０１０２频率明显升高（ＲＲ＝３．４３，Ｐｃ＝０．０３１６４），而ＤＱＡ１＊０６０１则显著降低（ＲＲ＝０．２９，Ｐｃ＝０．０４６１２）。表明ＤＱＡ１＊０１０２或某个与其紧密连锁的其它基因可能是江苏汉族ＳＬＥ的易感基因，而ＤＱＡ１＊０６０１对ＳＬＥ发病可能有一定的保护性     

沙眼衣原体泌尿生殖道慢性持续感染患者人白细胞抗原DQA1基因多态性研究

目的 探讨人白细胞抗原DQA1 （HLA-DQA1）等位基因多态性与沙眼衣原体泌尿生殖道慢性持续性感染的相关性。方法 PCR和基因测序方法,对80例沙眼衣原体泌尿生殖道慢性持续感染患者、80例沙眼衣原体泌尿生殖道一般感染患者及80例正常人的HLA-DQA1等位基因进行检测。结果 HLA-DQA1*0102和DQA1*0501在沙眼衣原体泌尿生殖道慢性持续感染患者中的基因频率分别为22.5%、5.0%,在一般感染组的基因频率分别为5%、20%,而在正常人对照组的基因频率分别为2.5%、17.5%。沙眼衣原体泌尿生殖道慢性持续感染患者的HLA-DQA1*0102等位基因较一般感染组及正常人对照组增高,差异有统计学意义（χ2 = 14.6286,P < 0.01）;而HLA-DQA1*0501 等位基因在持续感染患者中下降,差异有统计学意义（χ2 = 6.2598,P < 0.05）。结论 HLA-DQA1*0102可能是沙眼衣原体泌尿生殖道慢性持续感染的易感基因或与易感基因相连锁。HLA-DQA1*0501等位基因可能具有阻止发生沙眼衣原体泌尿生殖道慢性持续感染的作用。     

Association of HLA-DQA1 and DQB1 alleles with alolpecia areata in Chinese Hans

Accumulative evidences have shown that certain HLA loci are associated with alopecia areata (AA), but with existing differences in ethnic distribution. No report has ever been published about this in Chinese Hans. To investigate whether HLA-DQA1 and DQB1 alleles are associated with AA, and the correlation of the HLA profile with age of onset, severity, duration of current attack, recurrence and family history of AA in Chinese Hans. The polymerase chain reaction–sequence-specific primer (PCR-SSP) method was used to analyze the distribution of HLA-DQA1 and DQB1 alleles in 192 patients with AA and 273 healthy controls in Chinese Hans. The significant increased frequencies of HLA-DQA1*0104 (OR=3.38, P _c<0.001), HLA-DQB1*0604 (OR=5.17, P _c=0.006) and HLA-DQA1*0606 (OR=3.73, P _c<0.001) were observed in patients compared with controls. The DQA1*0104-DQB1*0604, DQA1*0104-DQB1*0606, and DQA1*0302-DQB1*0606 were found as high-risk haplotypes in developing AA in this study. HLA-DQA1*0104 (OR=5.31, P _c < 0.001) and -DQB1*0604 (OR=5.56, P _c=0.015) were more prevalent only in AA patients with long duration than controls. The frequencies of HLA-DQB1*0604 (OR=5.42, P _c=0.009) and -DQB1*0606 (OR=4.11, P _c<0.001) were obviously increased in patients less than 50% scalp hair loss. No locus was merely associated with early onset, severe involvement, recurrence and a positive family history of AA. This study demonstrated the positive association of HLA-DQA1 and DQB1 alleles and haplotypes with AA. There may be differences in genetic background in patients with different duration.     

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.     

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.     

包头地区汉族寻常型银屑病患者HLA-DQA1*0104等的检测

目的探讨包头市汉族寻常型银屑病患者与HLA-DQA1*0104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75例寻常型银屑病患者及75例健康对照的等位基因频率,并相互比较。结果①HLA-DQA1*0104与包头市汉族寻常型银屑病患者具有明显的相关性(P<0.05,OR=3.45)。②HLA-DQA1*0104在Ⅰ型、Ⅱ型寻常型银屑病患者中分布无差异(χ2=0.076,P>0.05)。③HLA-DQA1*0104在有家族史和无家族史的患者分布有差别(P<0.05,OR=4.48)。结论①HLA-DQA1*0104可能是寻常型银屑病易感基因或与易感基因相连锁。②有家族史和无家族史寻常型银屑病患者在其遗传背景上存在有差异。