矽肺与人类白细胞抗原-DRB1·和-DQB1·基因相关性的研究

目的 探讨我国北方汉族人矽肺的易感性与人类白细胞抗原（HLA）－DRB1＊、DQB1＊位点等位基因多态的相关性。方法 用序列特异性引物的聚合酶链式反应（PCR－SSP）方法，分析48名汉族矽肺患者及100名汉族无血缘关系对照者（均为有过14年以上接尘史的井下凿岩工）HLA－DRB1＊、DQB1＊位点的基因频率分布，以相对危险度（RR）代表相关程度。结果 在矽肺患者组中，DRB1＊1401、DQB1＊05的等位基因频率明显高于对照组，经统计学处理，两组间差异具有显著性（χ^2=5.61,P=0.0066,RR=17.40;χ^2=10.70,P=0.0011,RR=3.81)；而DRB1＊09的等位基因频率则明显低于对照组，差异有显著性（χ^2=5.70,P=0.0187,RR=0.21)；其他等位基因频率的分布差异无显著性（P＞0．05）。结论 HLA－DRB1＊1401、DQB1＊05可能与矽肺的易感性有关，而DRB1＊09则可能与机体抗矽肺的保护性有关。HLA－DR位点与机体易感及保护的双重作用有关，等位基因之间的共同作用可能是影响矽肺发生的原因之一。     

多囊卵巢综合征与HLA—DRB基因相关性研究

目的探讨HLA—DRB1基因与多囊卵巢综合征（PCOS）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32例汉族PCOS患者和58例对照组（正常人）的HLA等位基因频率。结果PCOS患者HLA—DRB＊09、DRB1＊11、DRB1＊13、DRB1＊14、DRB4的等位基因频率较对照组明显升高（P〈0．05或P〈0．01）。结论HLA—DRB1％09、DRB1女11、DRB1＊13、DRB1＊14、DRB4等位基因可能是PCOS的易感基因或与易感基因相连锁。     

湖北汉族人群HLA-A、B、DRB1基因多态性研究

目的了解湖北汉族人群HLA—A、B、DRB1基因分布特征。方法采用聚合酶链反应．序列特异性引物（PCR-SSP）和聚合酶链反应-序列特异性寡核苛酸探针（PCR-SSOP）流式细胞技术检测4026份湖北汉族骨髓捐献志愿者HLA—A、B、DRB1等位基因（中低分辨），分析等位基因频率，并与南北汉族人群进行比较。结果共检出A位点等位基因17种，B位点等位基因32种，特异性42种，DRBI位点等位基因13种。其中，A位点以A^＊02、A^＊11、A^＊24、A^＊33最常见．B位点以B^＊46、B^＊40（60）、B^＊13、B^＊15（62）、B^＊58、B^＊51最常见，DRBI位点以DRB1^＊09、DRB1^＊04、DRB1^＊15、DRB1^＊12、DRB1＊08、DRB1^＊07、DRB1^＊14、DRB1^＊ 11、DRB1^＊13最常见，未检出A^＊25、A^＊36、A^＊43、A^＊80、B^＊42、B^＊78。结论湖北汉族人群HLA—A、B、DRB1等位基因分布接近南方汉族人群之间，并有其自身特点。     

职业医学

032 2 90　矽肺与人类白细胞抗原 DRB1 和 DQB1 基因相关性的研究 /袁宝军…∥中华劳动卫生职业病杂志 2 0 0 2 ,2 0 ( 2 ) 93～ 96探讨我国北方汉族人矽肺的易感性与人类白细胞抗原 (HLA)_DRB1 、DQB1 位点等位基因多态的相关性。用序列特异性引物的聚合酶链式反应 (PCRSSP)方法 ,分析 4 8名汉族矽肺患者及 10 0名汉族无血缘关系对照者 (均为有过 14年以上接尘史的井下凿岩工 )HLA_DRB1 、DQB1 位点的基因频率分布 ,以相对危险度 (RR)代表相关程度。结果 ,在矽肺患者组中 ,DRB1 14 0 1、DQB1 0 5的等位基因频率明显…     

寻常型银屑病单纯病例研究

目的：研究寻常型银屑病环境因素与HLA－DQA1＊0104、DQA1＊0201和DQA1＊0501等位基因的交互作用。方法：采用单纯病例研究方法，调查176例寻常型银屑病患环境因素，用PCR－SSP方法检测HLA－DQA1＊0104、DQA1＊0201和DQA1＊0501等位基因，对寻常型银屑病环境因素与HLA－DQA1＊0104、DQA1＊0201和DQA1＊0501等位基因交互作用进行研究。结果：（1）HLA－DQA1＊0104等位基因与精神紧张呈现交互作用（P＝0．0383，OR＝0．41）。（2）HLA－DQA1＊0201等位基因与饮酒（P＝0．0451，OR＝0．52）、手术（P＝0．0332，OR＝3．93）存在交互作用。（3）HLA－DQA1＊0501等位基因与接种疫苗（P＝0．0451，OR＝12．0）存在交互作用。结论：HLA－DQA1＊0104、DQA1＊0201和DQA1＊0501等位基因能加强或减弱环境因素发生银屑病的危险性。     

2504例汉族人群HLA-A、B、C、DRB1和DQB1高分辨等位基因多态性研究

目的分析2 504例汉族人群HLA-A、B、C、DRB1和DQB1高分辨等位基因多态性及分布特征。方法采用基于Illumina Miseq二代测序技术,对岳阳地区2 504例汉族造血干细胞捐献志愿者的HLA-A、B、C、DRB1和DQB1基因进行高分辨分型,采用Py Pop软件计算等位基因频率、单体型频率核对连锁不平衡参数。结果 HLA-Ⅰ类基因中,A、B和C基因座分别检出55、117和67个等位基因,其中频率>0.05常见等位基因为A*11:01:01:01、A*24:02:01:01、A*02:07:01、A*02:01:01:01、A*33:03:01,B*40:01:02、B*58:01:01、B*15:02:01、B*13:01:01、B*46:01:01、C*03:03:01、C*03:02:02:01、C*08:01:01、C*03:04:01:02、C*07:02:01:01、C*01:02:01;HLA-Ⅱ类基因中,共检出50个DRB1和26个DQB1等位基因,频率>0.05常见等位基因见于DRB1*11:01:01、DRB1*08:03:02、DRB1*12:02:01、DRB1*15:01、DRB1*09:01:02,DQB1*03:01:01、DQB1*03:02:01、DQB1*03:03:02、DQB1*05:02:01、DQB1*06:01:01。HLA-A、B、C、DRB1和DQB1位点基因型分布符合Hardy-Weinberg平衡(P>0.05)。任意2个HLA基因间均具有强的连锁不平衡,其中频率≥0.01有统计学意义的单体型有196条。结论获得了岳阳地区汉族人群HLA-A、B、C、DRB1和DQB1高分辨等位基因频率数据,为人类学、移植配型、疾病相关性等研究提供了参考数据。     

人类白细胞抗原基因多态性与溃疡性结肠炎遗传易感关系的分析

目的探讨HLA—DPB1等位基因与广东汉族溃疡性结肠炎（UC）之间是否存在相关性。方法采用聚合酶链反应．限制性片段长度多态（PCR—RFLP）技术分析比较76例UC患者和128例健康对照者HLA—DPB1基因多态性,此后将UC组分为轻度组与中、重度组作进一步分析。结果UC患者携带DPB1。2201等位基因的频率较正常对照组升高,差异有统计学意义（19．74％VS9．38％,P〈0．05,OR=2．368,95％CI：1．088—4．676）。而其携带．DPB1女0402和DPB1＊0301等位基因的频率也较正常对照组升高,但差异无统计学意义（P〉0．05）。病情严重程度分组比较中,中重度组中DPB1＊2201和DPB1。0402的频率,以及轻度组的DPB1＋0301的频率均显著增高,这些差异与正常对照组相比差异均有统计学意义。轻度组中的DPB1＊0301的频率同样明显高于在中重度组的频率（P〈0．05）。广东汉族人群中,HLA—DPB1＊2201和UC及中重度UC有关;HLA．DPB1＊0402和中重度UC有关;HLA—DPB1＊0301和中重度UC有关。结论HIJA—DPB1等位基因与广东汉族人群的UC有关联。     

肺纤维化相关因子基因多态性与尘肺病易感性研究

目的 探讨肺纤维化相关细胞因子和炎症因子基因多态性与尘肺易感性的关系.方法 以确诊的汉族男性壹期尘肺病患者为病例,选择与病例来自同一工作场所、年龄相差不超过5岁、开始接尘时间及累积接尘工龄相差不超过2年的无尘肺病男性接尘工人为对照.采用聚合酶链反应-限制性片断长度多态性方法检测肿瘤坏死因子( TNF)、纤维粘连蛋白(FN)、转化生长因子-β(TCF-β)、白细胞介素-1(IL-1)、IL-6、人类白细胞抗原(HLA) -DRB1和HLA-DQB1的等位基因及基因型,分析其在2组中的分布情况.采用条件logistic回归方程,进行多因素分析.结果 单因素分析发现,病例组携带IL-6( -634)CC、FN Msp I CC、FN HaeⅢbAA和HLA-DRB1*08等位基因频率高于对照组(P＜0.05或P＜0.01);IL-lα(- 889)1/1、TGF-β( - 509 CC、+915 GG)、TN F-a(- 308)1/1基因型及HLA-DRB1*09、HLA-DQB1*06等位基频率低于对照组(P＜0.05或P＜0.01);多因素分析发现,IL-lα(- 889)1/1和TGF-β(+915)GG为保护因素;HLA-DRB1*08和FN Msp I CC基因型为危险因素.结论 携带IL-6(- 634)CC、FN(Msp I CC、HaeⅢbAA)基因型和HLA-DRB1*08等位基因的接尘者患尘肺病危险性增加;IL-lα(-889) 1/1、TGF-ββ( - 509)CC、TGF-β( +915)GG、TNF-α(- 308)1/1基因型及HLA-DRB1*09、HLA-DQB1*06等位基因为保护因素.     

社区美沙酮维持治疗对海洛因成瘾者吸毒行为影响的初步研究

目的 了解四川省西昌市社区美沙酮维持治疗对海洛因成瘾者吸毒行为的影响情况。方法于2004—05／07，以社区为基础招募海洛因成瘾者，调查其社会人口学、毒品使用及共用注射器具行为特征，了解社区美沙酮维持治疗（MMT）对吸毒行为的影响情况。结果 在调查的海洛因成瘾者中参加过MMT的为30．4％（105／346），参加MMT时间的中位数为49d。在控制社会人口学等因素后，多因素Logistic分析结果显示，MMT与海洛因成瘾者近3个月吸毒行为的关系有统计学意义的变量为：静脉吸毒频率（OR：0．40；95％CI：0．24～0．66）、海洛因口吸频率（OR：3．06；95％CI：1．87～5．00）、海洛因混合其他毒品使用频率（OR：0．43；95％CI：0．26～0．73）、共用针头或注射器（OR：0．03；95％CI：0．01-0．13）、共用洗针头或注射器用水（OR：0．06；95％CI：0．01～0．24）和共用吸毒器皿（OR：0．02；95％CI：0．00～0．18）。结论 研究结果表明我国第一批海洛因成瘾者美沙酮维持治疗试点项目在减少吸毒人群毒品使用和艾滋病相关高危吸毒行为等方面具有明显的效果。     

抗环瓜氨酸肽抗体在类风湿关节炎中的意义

目的：探讨抗环瓜氨酸肽（CCP）抗体对类风湿关节炎（RA）的诊断意义及与RA影像学病情进展的关系，并了解抗CCP抗体与IgM型类风湿因子（IgM—RF）、抗角蛋白抗体（AKA）、抗核周因子（APF）及HLA—DRB1＊04等位基因的相关性。方法：酶联免疫吸附测定（ELISA）法检测39例RA、32例非RA病例及30名正常人血清的抗CCP抗体；对RA患者X线双手相进行2—9年随访，按照RA的Steinbrocker疾病分期将X线病情进展分为Ⅰ、Ⅱ、Ⅲ和Ⅳ期，观察下列因素对RA病情进展有否影响：性别、发病年龄、病程、起病关节、关节外表现、抗CCP抗体、IgM—RF、ANA、AKA、APF、抗RA33抗体及HLA—DRB1＊04等位基因等。结果：抗CCP抗体对RA诊断的敏感性为84．6％，特异性为96．8％，阳性预测值为94．3％，阴性预测值为91．0％。抗CCP抗体与IgM—RF、AKA、APF及HLA—DRB1＊04的相关性无统计学意义；Logistic回归分析显示只有HLA—DRB1＊04等位基因对RA影像学病情进展具有显著性意义（P=0．044，回归系数r=0．206，期望值Exp=8．256），未发现抗CCP抗体与RA骨侵蚀进展具有相关性。结论：抗CCP抗体可作为RA良好的诊断指标；抗CCP抗体对RA病情严重性及预后判定的意义有待进一步探讨。     

HLA-DRB1和DQB1基因多态性与药物肝损害关联研究的meta分析

目的对人类细胞抗原（human leukocyte antigen system,HLA）基因多态性和药物性肝损害的关联性研究现状进行系统综述,并用meta分析的方法总结可能的诱发药物性肝损害的HLA基因多态性位点。方法主题词检索PubMed和EmBase电子数据库,根据预先设定的纳入排除标准对文献进行评价,对符合纳入标准的文献进行信息提取。对HLA-DRB1*15、*07、*03和HLA-DQB1*06、*02进行meta分析并计算合并OR值。结果纳入11篇文献共14个研究报道HLA基因多态性与药物性肝损害的关联。根据meta分析结果,药物性肝损害病例组与对照组相比,具有更高的HLA-DRB1*15、DQB1*06基因型比例（OR=2.82,95%CI:1.31～6.07,P<0.001;OR=3.47,95%CI:1.77～6.81,P<0.001）。结论 HLA-DRB1*15和HLA-DQB1*06基因型可能是药物性肝损害发生中的危险因素。     

HLA-DQB1 and -DPB1 allele profile in HIV infected patients with and without pulmonary tuberculosis of south India

We made an attempt to find out whether Human Leucocyte Antigen (HLA)-DQB1 and -DPB1 alleles are associated with susceptibility or resistance to Human Immunodeficiency Virus (HIV) infection and development of pulmonary tuberculosis (PTB) in HIV infected patients. The allelic profile of HLA-DQB1 and -DPB1 was studied among HIV patients without pulmonary tuberculosis (HIV+PTB-) (n=115), HIV patients with pulmonary TB (HIV+PTB+) (n=59), HIV negative PTB patients (HIV-PTB+) (n=110) and healthy controls (n=112) by polymerase chain reaction and sequence specific oligonucleotide probe method. Increased frequency of HLA-DQB1*050301 was observed in HIV+PTB- [p=0.024, Odds Ratio (OR) 2.30, 95% Confidence Interval (CI) 1.11-4.90] and HIV+PTB+ patients (p=0.044, OR 2.41, 95% CI 1.01-5.73) compared to healthy controls, suggesting that DQB1*050301 may be associated with susceptibility to HIV infection as well as development of PTB in HIV patients. Underrepresentation of HLA-DPB1*1501 was observed in HIV-PTB+ (p=0.002, P(c)=0.034) and HIV+PTB+ (p=0.036) patients compared to healthy controls, suggesting that DPB1*1501 may be associated with protection against PTB development both in HIV positive and negative subjects. Analysis on the amino acid variation in the peptide binding pocket at beta69 position of HLA-DPB1 molecules revealed that the beta69 arginine containing HLA-DPB1 alleles and the genotype lysine/arginine were underrepresented in HIV-PTB+ (allele: p=0.003, P(c)=0.009; genotype: p=0.0002, P(c)=0.001) and HIV+PTB+ (allele: p=0.016, P(c)=0.048; genotype: p=0.026). This suggests that HLA-DPB1 alleles with arginine may be associated with protection against development of PTB in both HIV infected as well as uninfected individuals. Further, the haplotypes HLA-DRB1*1502-DPB1*0201 and HLA-DQB1*0601-DPB1*0201 (P(c)<0.001) and HLA-DRB1*1502-DQB1*0601-DPB1*0201 (p=0.006, OR 5.09, 95% CI 1.42-22.66) were significantly overrepresented in HIV+PTB+ patients compared to healthy controls suggesting that genetic susceptibility to PTB development in HIV patients may be modulated by interplay between HLA class II alleles, besides HLA class I alleles.     

Clinical and genetic risk factors for the development of multi-drug resistant tuberculosis in non-HIV infected patients at a tertiary care center in India: a case-control study.

Genetic susceptibility of the host to multi-drug resistant tuberculosis (MDR-TB) is not fully understood. We undertook a case-control study at a tertiary care center at New Delhi, India to identify the clinical and genetic predictors of MDR-TB as compared to the drug sensitive TB cases. Patients with multi-drug resistant tuberculosis were identified on the basis of drug sensitivity testing by the proportion method. Treatment was initiated according to standard norms and all patients were followed up during the period. Genomic DNA extracted from the peripheral blood mononuclear cell pellet was used for amplification of HLA class II region (second exon) with a set of forward (5') and reverse (3') primers. A sequence specific 5' biotinylated probes were used to determine 12 DRB1, 8 DQA1 and 13 DQB1 alleles by the PCR-SSOP method. Past history of disease, higher severity of illness, inadequacy of drug treatment and presence of HLA-DRB1*14, DQB1*0503 and DQB1*0502 alleles were found to be significant risk factors for MDR-TB. Multivariate analysis identified poor past compliance to treatment (odds ratio, OR=6.6; 95% confidence interval, CI [2.0-21.5]), higher number of cavities (OR=6; 95% CI [2.1-17.3]) in chest radiographs and the presence of the HLA-DRB1*14 allele (OR=8.2; 95% CI [2.1-31.3]) as independent predictors of MDR-TB. Our results suggest that a combination of clinical and immunogenetic parameters could provide better information on drug resistance in tuberculosis with implications in therapy.     

三氯乙烯职业中毒皮肤损害与HLA-DR、DQ基因相关性研究

[目的]从HLA-DR、DQ基因角度探讨三氯乙烯职业中毒皮肤损害易感的遗传背景.[方法]采用PCR-SSP(sequence specific primer)法对三氯乙烯职业中毒皮肤损害组(病例组)及对照组进行HLA-DR、DQ基因位点等位基因分型.[结果]HLA-DRB1位点在病例组检出11个等位基因,11个血清型;对照组检出13个等位基因,13个血清型.HLA-DQB1位点在病例组及对照组均检出5个等位基因,7个血清型.获得了各等位基因分布及基因频率资料,其中DRB1*09(DR9)和DQB1*03(DQ9)等位基因频率在病例组与对照组间差异均有显著性(P＜0.05);OR值(95%可信区间)分别为DRB1*09(DR9)等位基因为0.174(0.037～0.830),DQB1*03(DQ9)等位基因为0.226(0.046～1.108).[结论]DRB1*09(DR9)和DQB1*03(DQ9)等位基因可能是三氯乙烯职业中毒皮肤损害的保护基因.     

HLA-DRB1* and DQB1* allele and haplotype diversity in eight tribal populations: Global affinities and genetic basis of diseases in South India

The distribution of HLA class-II DRB1* and DQB1* alleles/ haplotypes were studied in 438 individuals of 8 Dravidian tribal groups inhabiting the Western Ghats, south India. The HLA typing was performed by PCR-SSP method. In order to identify the 5-locus Ancestral Extended Haplotypes (AEH), the alleles of HLA-A, -B and -C loci were typed for DNAs with predominant 2-locus haplotypes. The analyses have revealed allele HLA-DRB1*15 as the most predominant allele (Lowest / Highest range: Urali, 14.81 / Malasar, 48.94), followed by the alleles DRB1*10 (Katunayakan, 1.85 / Paliyan, 48.21), DRB1*14 (Paliyan 4.46 / Katunayakan, 40.74), DRB1*12 (Mannan, 1.64 / Katunayakan, 20.37) and DRB1*03 (Mannan, 1.64 / Urali, 29.63). The most frequent DQB1* alleles were DQB1*02 (Paliyan 3.57 / Urali, 23.15), DQB1*05 (Katunayakan, 27.77 / Paliyan 84.82) and DQB1*06 (Malasar, 8.51 / Kuruman, 33.51). The most predominant two-locus haplotypes observed were DRB1*15-DQB1*05, DRB1*10-DQB1*05, DRB1*15-DQB1*06 and DRB1*04-DQB1*05. The present study of HLA immunogenetics of south Indian tribes have revealed the presence of globally shared two and 5-locus haplotypes. Many of these haplotypes were implicated in a number of diseases in south India. We observed the presence of ancestral extended haplotypes (AEHs), hitherto not reported in Indian populations such as, A*68-B*35-C*02-DRB1*15:01-DQB1*05:01, A*24-B*57-C*06-DRB1*04:01-DQB1*05:01 and A*24-B*35-C*02-DRB1*15:01-DQB1*05:02. The dendrogram based phylogenetic analyses have revealed the Caucasian affinity of Urali, palaeo-Mediterranean and Indo-European affinity of Malasar tribes. The presence of globally shared susceptible and protective haplotypes reiterated the mosaic immunogenetic fabric of south Indian tribes.     

Incidence rate of type 1 diabetes in Santiago (Chile) by HLA-DQA1 and DQB1 genotypes

The aim of this study was to estimate annual incidence rate of type 1 diabetes according to the levels of genetic susceptibility provided by HLA-DQA1 and HLA-DQB1 genotypes. Two information sources were used: (1) a population-based incidence study in which 61 incident cases were ascertained during 1 year in Santiago, Chile (incidence rate: 4.11 cases per 100,000 children per year) and (2) a case–control comparison of 57 cases (recruited from the incidence study) and 125 controls. Susceptibility alleles were defined as DQA1*0301 and DQA1*0501 for DQA1 gene and alleles DQB1*0201 and DQB1*0302 for DQB1 gene. In DQA1 gene, the highest point estimate of the incidence rate was calculated for the genotype DQA1*0501/DQA1*0501 (33.04 cases per 100,000 children aged less than 15 years old and per year; 95% CI: 9.22–118.33). In the DQB1 gene, the highest risk was estimated for the genotype DQB1*0201/DQB1*0201 (20.35 cases per 100,000 children aged less than 15 years old and per year; 95% CI: 5.26–78.67). This study shows an application on how a transformation of the logistic equation based on Bayes' theorem can be used to estimate incidence rates from case–control studies and population-based incidence rates.     

ADH1B与ALDH-2基因多态性与中国人群食管癌发病风险的Meta分析

目的探讨中国人乙醇脱氢酶1B(ADH1B)和乙醛脱氢酶-2(ALDH-2)的基因多态性与食管癌发病风险的关系。方法检索中外文数据库,获得有关ADH1B和ALDH-2位点的多态性与食管癌发病风险的病例-对照研究资料,对各位点以及与饮酒的交互作用进行Meta分析,得到合并的OR值及其95%CI。结果等位基因ADH1B*1和ALDH-2*2可增加食管癌的发病风险。基因型ADH1B*1/*2和ADH1B*1/*1的OR值分别为1.24(95%CI 1.10-1.41)和3.05(95%CI 1.94-4.77);基因型ALDH-2*1/*2和ALDH-2*2/*2的OR值分别为1.6(95%CI 1.01-2.03)和0.77(95%CI 0.28-2.09)。在饮酒人群中,与基因型ADH1B*2/*2相比,ADH1B*1/*2+*2/*2的OR=3.13(95%CI 2.17-4.51);与基因型ALDH-2*1/*1相比,ALDH-2*1/*2+*2/*2的OR=4.12(95%CI 1.98-8.56)。结论在中国人群中,等位基因ADH1B*1和ALDH-2*2均能增加食管癌患病的风险,且饮酒可以增加这一风险。     

Association between HLA-DQB1 alleles and type 1 diabetes in a case-parents study conducted in Santiago, Chile

The human leukocyte antigen (HLA) system plays a crucial role in the autoimmune process leading to childhood diabetes. The purpose of this study was to evaluate the association between type 1 diabetes and the polymorphism encoded by the HLA-DQB1 gene by using case-parents trios. The study area was the metropolitan region of Santiago, Chile, and cases were ascertained from March 1997 to August 1998. Genotyping was performed in 94 trios comprising incident cases less than 17 years of age at the time of diagnosis and their parents. The transmission/disequilibrium test was used to detect differential transmission in the HLA-DQB1 locus. The authors found that alleles DQB1(*)0302 and DQB1(*)0201 were strongly associated with the disease. By using 1:3 matched sets of cases-pseudosibs and conditional logistic regression models, allelic relative risks were estimated for DQB1(*)0302 (r = 7.2, 95% confidence interval: 2.8, 18.5) and DQB1(*)0201 (r = 4.7, 95% confidence interval: 1.9, 11.6); DQB1(*)0301 was considered the baseline allele. When case-parents trios were used, alleles DQB1(*)0302 and DQB1(*)0201 were strongly associated with a higher risk of type 1 diabetes in the population of SANTIAGO:     

贵州布依族人群HLA-DRB1、DQB1基因多态性的研究

[目的]了解贵州布依族人群人类白细胞抗原HLA-DRB1、DQB1基因多态性及分布特征。[方法]应用聚合酶链反应-序列特异性引物(PCR-SSP)方法对贵州布依族96名健康人群进行HLA-DRB1、DQB1等位基因分型。[结果]检出了21个DRB1等位基因,7个DQB1等位基因。[结论]得到了贵州布依族人群HLA-DRB1、DQB1等位基因频率分布的可靠资料,为少数民族群体遗传和疾病关联的研究提供了可靠的遗传学数据。