色素障碍性皮肤病

20 0 0 2 6 17　 HL A- DRB1等位基因与中国北方汉族白癜风的相关性 /肖毅 (中国医大一附院皮肤科 )…∥中华皮肤科杂志 .- 2 0 0 0 ,33(1) .- 5～ 7选取中国北方汉族白癜风患者 91例 ,对照组为无血缘关系的汉族健康人 2 6 2例。采用聚合酶链反应 /序列特异寡核苷酸探针 (PCR- SSO)方法检测分析其HLA- DRB1等位基因频率。结果 :白癜风患者 HL A-DRB1* 0 30 1,2 (17,18)明显降低 ;白癜风患者、散发型及儿童发病型患者均有 HL A- DRB1* O7Ox及 HL A-DRB1* 12 0 1,2明显升高 ;肢端型和有家族史的患者均有 HL A- DRB1* O7Ox…     

结缔组织疾病

20 0 2 1690　 SL E患者抗 UIRNP抗体与 HL A- 类基因的相关性分析 /李晓岚 (昆明医学院二附院皮肤科 )…∥中国皮肤性病学杂志 .- 2 0 0 2 ,16(1) .- 4～ 5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 SL E患者进行 DRB1、DQA1、DQB1基因分型。结果表明 ,15例 UIRNP抗体阳性患者中 DQA1* 0 10 1等位基因频率、DR15 - DQA1* 0 10 2 - DQB1* 0 60 1单体型频率显著升高。提示不同种族 SL E患者自身抗体与 HL A的关联仍存在少数等位基因的差异。表 1参 2　(张孝友 )2 0 0 2 1691　 SL E患者血清抗心磷脂抗体和抗﹀2 糖蛋白 抗体水平及关系 /熊艳 (华中科大同济医学院协和医院检验科 )…∥临床皮肤科杂志 .- 2 0 0 1,30 (6) .- 35 1～ 35 2采集活动期 SLE患者血标本 35例 ,采用ELISA法测定血清中抗心磷脂抗体 (ACA)、抗 β2糖蛋白 (β2 GP )抗体水平。结果显示 SLE患者两种抗体明显升高 ,ACA 阳性...     

广西地区壮、汉族系统性红斑狼疮与HLA-DRB1等位基因相关性研究

目的：探讨广西地区壮、汉族系统性红斑狼疮(SLE)与HLA-DRB1等位基因的相关性。方法：用聚合酶链式反应一序列特异性引物(PCR-SSP)方法，分别对52例SLE壮族患者和70名壮族健康人，45例SLE汉族患者和60名汉族健康人的HLA-DRB1等位基因进行研究。结果：壮族SLE患者HLA-DRB1^*1401及DRB1^*16两个等位基因的频率低于正常对照组(RR=0．2813，χ^2=5．0024，P=0．0252及RR=0．3889，χ^2=3．9527，P=0．0466)，患者组和对照组均未检出HLA-DRB1^*08、DRB1^*11和DRB1^*13等位基因；汉族SLE患者HLA-DRB1^*15等位基因的频率高于正常对照组(RR=2．5333，χ^2=8．4006，P=0．00371，患者组未检出HLA-DRB1^*11、DRB1^*13等位基因，对照组亦未检出HLA-DRB1^*13等位基因。结论：提示HLA-DRB1^*1401及DRB1^*16等位基因可能是广西地区壮族人SLE的保护基因，未发现易感基因。提示HLA-DRB1^*15等位基因可能是广西地区汉族人SLE的易感基因。     

大疱及疱疹性皮肤病

20 0 2 30 84　汉族红斑型天疱疮与 HLA- 类基因相关性研究 /周淑华 (中国医科院皮研所 )…∥中国皮肤性病学杂志 .- 2 0 0 2 ,16 (3) .- 14 5对象为汉族红斑型天疱疮 (PE)患者 37例 ,对照组为 5 7例 (DR基因 )和 5 3例 (DQB1基因 )与患者同地区、无血缘关系的健康人。采用 PCR序列特异性引物 (PCR- SSP)法检测 HL A- DR、DQB1等位基因的分型。结果 :与正常对照组比较 ,PE患者组 DR4(DRB1*0 4 0 6 )、DRB1* 14、DQB1* 0 30 2、DQB1* 0 5 0 3基因频率比对照组显著升高。认为 ,HL A- DRB1* 14、DQB1* 0 5 0 3可能是汉族 PE患者易感的单倍型。图 1表 2参 9　 (刘彤 )2 0 0 2 30 85　家族性良性慢性天疱疮合并尖锐湿疣 2例/邢有兰 (天津市长征医院皮肤科 )…∥中国皮肤性病学杂志 .- 2 0 0 2 ,16 (3) .- 190例 1女 ,38岁 ,颈、腋窝、乳房下、腹股沟、外阴部红斑、糜烂 15年。体检见上述部位多处红斑、水疱、糜烂及结痂...     

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。     

HLA-DRB1基因与慢性荨麻疹的相关性

目的探讨慢性荨麻疹与HLA-DRB1等位基因的相关性。方法采用聚合酶链反应-序列特异性引物方法,检测慢性荨麻疹(CU)患者组144例(汉族64例,壮族80例)和正常对照组199例(汉族95例,壮族104例)的HLA-DRB1等位基因频率,使用SPSS13.0统计软件分析。结果在检测的16个位点中,DRB1*12和*1401等位基因频率在汉族患者组与汉族对照组间差异有统计学意义(Pc<0.001,RR=6.715;Pc<0.001,RR=28.776);DRB1*1401等位基因频率在壮族患者组与壮族对照组间差异有统计学意义(Pc=0.002,RR=4.526)。DRB1*12等位基因频率在汉族患者组与壮族患者组间比较,差异有统计学意义(Pc<0.001)。结论 DRB1*12和*1401等位基因可能与汉族CU有相关性;DRB1*1401等位基因可能与壮族CU有相关性;DRB1基因多态性在汉、壮族间分布有差异。     

广东汉族SLE患者HLA-DR、DQ、DP基因多态性研究

目的：研究广东汉族SLE患与HJA-DQ、DR、DP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48例广东籍汉族SLE患和102例健康对照静脉血样本HJA-DQ、DR、DP等位基因多态性进行研究。结果：SLE患DQA1*0101等位基因频率显升高(RR=8．12，P=0．004)，DQA1*0302明显低于正常组(RR=0．09，P=0．005)。DQB1*0301基因频率明显低于正常组，两比较有显性差异(P＜0．01)。SLE患DR3(DRB1*0301-DRB1*0302)基因频率显高于正常组(x。=14．24，P＜0．01，RR=20．20)；DRw52(DRB3*0101-DRB3*0301)基因频率显高于正常组(x^2=20．346，P＜0．01)；DRWl4：DRBl*1402，DRB1*1403基因频率也显高于正常组(P＜0．05)；DR4(DRB1*0401-DRB1*0411)基因频率明显低于正常组(P＜0．01)，DR9(DRB1*0901)，DRw11(DRB1*1101-DRB1*1104)基因频率也显低于正常组(P＜0．01)，DPA1*0202等位基因频率显高于正常组(x^2=4．124，P＜0．05，RR=3．54)，SLE患DPA1*0201等位基因频率显低于正常组(x^2=4．595，P＜0．05，RR=0．37)。结论：提示HLA-DQA1*0302、DQB1*0301；DR4(DRB1*0401-DRB1*0411)，DR9(DPB1*0901)，DRw11(DRB1*1101-DRB1*1104)对SLE发病可能有一定保护作用。DPA1*0202为广东籍48例SLE患的易感基因，而DPA1*0201可能为其保护基因。     

结缔组织疾病

20 0 2 0 2 4 5　系统性红斑狼疮患者 HL A- DQ基因与自身抗体及肾脏受累的研究 /施为 (中南大学湘雅医院皮肤科 )…∥中华皮肤科杂志 .- 2 0 0 1,34 ( 3) .- 2 2 2采用 PCR- SSO技术对红斑狼疮患者中抗 Sm抗体、抗 RN P抗体、抗 ds- DNA抗体阳性者及有肾脏受累者进行了 HL A- DQ A1、DQ B1分型。结果与正常对照相比 ,SL E患者中抗 Sm、抗 ds- DN A、抗 RN P抗体阳性者及肾脏受累者 DQ A1* 0 10 2频率显著升高 ,DQA1* 0 10 1频率下降 ,抗 Sm阳性者 DQA * 0 30 11/0 30 2频率亦下降 ,其中以肾脏受累及抗 Sm阳性与 DQ A1*0 10 2关联强度最高 ,RR分别为 16 .35及 19.73。与正常对照相比 ,SL E患者中抗 Sm及肾脏受累者 DQB1*050 2频率显著升高 ,而抗 ds- DN A、抗 RN P阳性者与DQB1等位基因无明显相关。表 1参 6　 (冯义国 )2 0 0 2 0 2 4 6　 SL E患者 T细胞受体 V﹀基因的表达水平与特征 /陈红清 (...     

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。     

HLA-Ⅱ类基因与大疱性类天疱疮的相关性研究

目的 探讨大疱性类天疱疮(BP)与HLA-Ⅱ类基因的相关性，BP的免疫遗传发病背景。方法 用聚合酶链反应-序列特异性引物寡核苷酸探针(PCR-SSOP)方法对上海地区汉族56例类天疱疮患者和150例健康对照进行了HLA-DRB1、DQA1、DQB1位点等位基因分型。结果 发现HLA-DRB1*1001与DQB1*0501紧密连锁，其基因频率在BP组与对照组比较明显增高，与BP的临床特征黏膜损害正相关，与靶抗原BP230抗体正相关：DRB1*04与DQB1*0302紧密连锁，其基因频率在BP组与对照组比较也明显增高，与靶抗原BP180正相关：DRB1*12基因频率BP组与对照组比较明显降低(P=0．007，RR=0．358)，与BP的年龄因素和对皮质类固醇的治疗反应负相关。结论 DRB1*1001、DRB1*04可能为上海地区BP患者的易感基因，而DRB1*12(*1201，*1202)可能为上海地区汉族BP患者的保护基因。     

Association between psoriasis vulgaris and MHC-DRB, -DQB genes as a contribution to disease diagnosis

We analyzed 100 control individuals and 60 patients with psoriasis vulgaris from the population of Campinas, Brazil. Typification of class II HLA alleles (HLA-DRB1-5 and -DQB1) was carried out through the DNA/PCR/SSP at medium and high resolution. DNA was extracted through a salting-out procedure: 13 DRB1 alleles, 3 DRB3 alleles, 1 DRB4 allele, 2 DRB5 alleles, and 5 DQB1 alleles were identified at a medium resolution using the PCR/SSP, and 45 DRB1 alleles were identified at a high resolution in analyzed patients. Results showed associations with psoriasis vulgaris: positive associations HLA-DRB3*02 (p < 0.05, chi(2) = 5.10, RR = 2.14); HLA-DRB1*0102 alleles (p < 0.05, RR = 5.44). Negative associations were found for HLA-DRB4*01 (chi(2) = 3.23, RR = 0.55) and HLA-DRB1*1302 alleles (p < 0.05, RR = 0.23). The haplotypes revealed positive association for HLA-DRB1*0102/DQB1*05 (p < 0.05, RR = 5.44) and HLA-DRB1*0701/DQB1*03 alleles (p < 0.02, RR = 9.00). These findings suggest a possible association of the DRB1 allele with the group of patients showing an early onset of the illness, as well as an association with haplotypes HLA-DRB1*0102/DQB1*05 and HLA-DRB1*0701/DQB1*03.     

系统性红斑狼疮患者自身抗体与HLA-DR、DQ基因的相关性研究

目的 探讨系统性红斑狼疮（ＳＬＥ）的发病机理和遗传基础。方法 分析了ＳＬＥ患者中各种自身抗体与ＨＬＡ－ＤＲ、ＤＱ基因的关联。结果 发现抗Ｒｏ抗体与ＤＲ２、ＤＱ６及ＤＱ２／ＤＱ６杂合子相关，抗ＲＮＰ抗体与ＤＱＡ１＊０１０２、ＤＱＢ１＊０６０２相关。抗Ｓｍ和抗ｄｓＤＮＡ抗体均与ＤＲＢＱ＊１５０１、ＤＱＡ１＊０１０２、ＤＱＢ１＊０６０２相关，这与汉族ＳＬＥ与ＨＬＡ的关联完全一致，表明抗Ｓｍ和抗ｄｓＤＮＡ     

HLA DQB1*0301 allele is involved in the susceptibility to erythema multiforme

Erythema multiforme (EM) is an acute, episodic inflammatory disorder of the skin and mucous membranes of various etiology that could be related to immunologic hypersensitivity response. EM has been previously reported to be associated with serologically defined HLA-DRw53 and DQw3 antigens. In this report, we reevaluate the role of HLA class II alleles in EM manifestations. With use of the polymerase chain reaction, followed by sequence-specific oligonucleotide hybridization, 35 unrelated Caucasian EM patients and 80 randomly selected healthy subjects were studied, and the DRB3, DRB4, DQA1, and DQB1 alleles were analyzed. The comparison of frequencies of these alleles indicates that (i) susceptibility to EM disease is more associated with the HLA-DQ than the HLA-DR subregions and (ii) that the DQB1*0301 is the most frequent allele among EM patients. Sixty-six percent of the patients had the DQB1*0301 allele compared to 31% of the controls (RR = 4.1; p less than 0.001). An even stronger DQB1*0301 association was found in the patient group with herpes-associated EM (76%; RR = 6.5; p less than 0.001). Our data demonstrate a clear association between an HLA-DQB1 allele and susceptibility to EM.     

Correlation between HLA and pityriasis rosea susceptibility in Brazilian blacks

Objectives The human leucocyte antigen (HLA) has been related to susceptibility factors in several diseases. This study aimed to determine the potential genetic susceptibility of patients with pityriasis rosea (PR) through HLA molecular typing analysis. Methods The method of choice was polymerase chain reaction with sequence‐specific primers (PCR‐SSP) using low‐resolution typing kits, with determination of the alleles class I (HLA‐A, HLA‐B and HLA‐C) and class II (HLA‐DRB1, DRB3, DRB4, DRB5 and DQB1) performed in 30 Afro‐Brazilian PR‐diagnosed patients and 45 healthy individuals as the control group (PR‐C). Results Analysis of the HLA typing results showed that the relative risk (RR) of 4.00 [95% confidence interval (95% CI) 1.20–13.28, two‐tailed P = 0.018] for allele HLA‐DQB1*04 class II, detected in 33.3% of PR patients, was significant. By contrast, in the control group only 11.1% of subjects had that allele. Three out of six B*51 alleles and three out of six B*53 alleles detected in PR patients were found, together with the allele DQB1*04. Conclusion We suggest that alleles DQB1*04 may be involved in the genetic susceptibility of PR based on the significant predominance of those alleles observed in the black PR patients. We also recommend that more studies are conducted on populations of other ethnic origins, preferentially with higher resolution techniques of DNA typing.     

A new extended haplotype Cw*0602-B57-DRB1*0701-DQA1*0201-DQB1*0201 associated with psoriasis in the Croatian population

In this study, we have analysed the distribution of HLA class II alleles and the extended haplotype HLA-Cw-B-DRB1-DQA1-DQB1 in Croatian patients with type I and type II psoriasis by hybridization with specific oligonucleotide probes. Type I psoriasis showed a significant association with the DRB1*0701 [P < 0.00001; relative risk (RR) = 5.83], DQA1*0201 (P < 0.00001; RR = 6.12), DQB1*0201 (P = 0.0006; RR = 3.29) and DQB1*0303 alleles (P = 0.0008; RR = 7.51). A negative correlation with type I disease was observed for the DQA1*0102 allele (P = 0.002; RR = 0.26). Type II psoriasis did not show any association with any class II alleles. The extended haplotype HLA-Cw*0602-B57-DRB1*0701-DQA1*0201-DQB1*0201 was present at a significantly higher frequency in type I patients (P < 0.00001; RR = 7.72). However, this haplotype was not detected at all in patients with type II psoriasis. In conclusion, the extended haplotype HLA-Cw*0602-B57-DRB1*0701-DQA1*0201-DQB1*0201 is a risk haplotype for type I disease in the Croatian population. This particular haplotype has not been reported previously in association with psoriasis in any other ethnic groups.     

Human leucocyte antigen class II associations in chronic idiopathic urticaria

The major histocompatibility complex (MHC) acts as a marker for self during T-cell ontogeny and is associated with the pathogenesis of many autoimmune diseases. Recent investigations have shown about 30% of patients with chronic idiopathic urticaria (CIU) have IgG autoantibodies against the high-affinity IgE receptor, FcepsilonRI, or IgE. A link between MHC class II alleles and CIU has not been reported previously. DNA was extracted from blood of 100 Caucasian patients with CIU, and the MHC class II type determined using the polymerase chain reaction with sequence-specific primers, testing for DRB and DQB1 alleles. The frequency of alleles in CIU patients was compared with that found in 603 controls. Further human leucocyte antigen (HLA) typing on patient subsets, classified by the patients' responses to intradermal injection of autologous serum and their serum-induced histamine release from basophil leucocytes of healthy donors, was undertaken. HLA DRB1*04 (DR4) and its associated allele, DQB1*0302 (DQ8), are raised in CIU patients compared with a control population (P = 2 x 10-5 and P = 2 x 10-4, respectively). HLA DRB1*15 (DR15) and its associated allele, DQB1*06 (DQ6), are significantly less frequently associated with CIU. The HLA DRB1*04 association is particularly strong (corrected P = 3.6 x 10-6) for patients whose serum has in vivo and in vitro histamine-releasing activity. HLA class II typing is consistent with the concept that CIU is a heterogeneous disease, and supports an autoimmune pathogenesis in a subset of patients.     

四川彝族麻风易感性和HLA—DRB1和HLA—DQB1等位基因的相关性研究

目的：分析四川省彝族人群HLA—DRB1、HIA—DQB1等位基因与麻风的相关性。方法：运用聚合酶链反应-序列特异性引物（PCR—ssP）方法,对四川省彝族100例麻风患者和100例健康对照分别进行HLA—DRB1和HLA—DQB1等基位因检测,并比较病例组和对照组之间等位基因频率的差异。结果：麻风病例组HIJA—DRB1＊13等位基因频率较对照组显著增高（P〈0．05）。结论：Hu—DRB1＊13可能与四川省彝族麻风的易感性相关。     

HLA-DQB1等位基因多态性与复发性尖锐湿疣的关系

【摘要】目的 研究HLA-DQB1等位基因DQB1*0501、DQB1*0502、DQB1*0201、DQB1*0402与复发性尖锐湿疣间的关系,为寻找尖锐湿疣的易感基因提供线索。方法 应用PCR-SSP技术检测84例复发性尖锐湿疣患者和107例正常人的HLA-DQB1等位基因DQB1*0501、DQB1*0502、DQB1*0201、DQB1*0402。结果 尖锐湿疣复发组DQB1*0501等位基因频率明显降低（8.3% vs 21.5%,P<0.05）,DQB1*0201等位基因频率明显降低（0% vs 9.3%,P<0.01）,另两等位基因在两组之间无明显差异,提示DQB1*0501与DQB1*0201与尖锐湿疣复发相关。结论 HLA 多态性可能是与尖锐湿疣复发有关的宿主遗传因素。     

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。