兰州地区汉族人群HLA-A、B和DRB1等位基因多态性分析

目的分析兰州地区汉族人群HLA-A、B和DRB1位点等位基因多态性特点。方法采用序列特异性引物聚合酶链反应技术对兰州地区200名健康无血缘关系的汉族个体HLA-A、B和DRB1基因座进行分型，并与西北、北方和南方汉族、西北回族、维吾尔族和藏族人群进行比较。结果兰州汉族人群中HLA-A基因座共检出14个等位基因，以A＊02，A＊11，A＊24，A＊33，A＊30，A＊01和A＊31基因最常见；HLA—B基因座共检出32个等位基因，以B＊40，B＊15，B＊46，B＊13，B＊51，B＊60，B＊58和B＊44基因最为常见；HLA-DRB1基因座共检出13个等位基因，最多见的基因依次为DRB1＊09．DRB＊15，DRB1＊12，DRB1＊04，DRB1＊11，DRB1＊07，DRB1＊08和DRB1＊14，接近北方汉族而与南方汉族有差异，与西北回族无明显差异，但与西北维吾尔族和藏族差异有统计学意义。结论兰州地区汉族人群HLA-A、B和DRB1位点等位基因多态性与南、北汉族人群存在不同程度的差异，与西北维吾尔族和藏族差异显著。     

青海土族人群HLA-A、B、DRB1基因多态性分析

目的:分析青海土族人群人类白细胞抗原(Human leukocyte antigen,HLA)A、B、DRB1的基因多态性特点。方法:应用聚合酶链反应-直接测序分型(Polymerase chain reaction sequence-based typing,PCR-SBT)法对土族人群中47名健康无血缘关系的个体进行HLA-A、B、DRB1基因座高分辨分型。并将青海土族人群的HLA-DRB1基因与国内其它少数民族人群进行比较。结果:检出HLA-A、B、DRB1的基因型数和等位基因数分别为34、41、42和17、28、30。这3个基因座分布均符合Hardy-Weinberg平衡定律(P>0.05)。且HLA-DRB1基因座等位基因频率分布与蒙古族有相似之处,表现在基因频率较高的DRB1*04,DRB1*07,DRB1*09,DRB1*12等位基因。结论:青海土族人群具有独特的HLA-A、B、DRB1基因频率分布特征,且青海土族HLA-DRB1等位基因频率分布与蒙古族有相似之处。     

广州地区献血人群HLA-A、B、DRB1高分辨等位基因及单体型多态性的研究

目的:研究广州地区献血人群HLA-A、B、DRB1等位基因多态性的分布特征。方法:应用序列特异引物-聚合酶链反应(polymerase chain reaction-sequence-specific primer,PCR-SSP)高分辨试剂分型,对广州地区1691名无血缘关系的健康人群HLA-A、B、DRB1进行基因分型。结果:检出HLA-A、B、DRB1等位基因分别有37、76、43种,经统计分析这3个基因座分布均符合Hardy-Weinberg平衡定律(P0.05),A*02:07-B*46:01-DRB1*09:01(4.293%)和A*33:03-B*58:01-DRB1*03:01(3.284%)单体型是广州地区献血人群最常见单体型。结论:广州地区献血人群HLA-A、B、DRB1基因座单体型分布具有高度的遗传多态性且有其自身分布特点。研究获得的HLA-A、B、DRB1基因座单体型分布数据及相关遗传参数资料,为HLA在人类学、免疫遗传学、法医学和其它的组织器官移植方面的应用和科学研究提供和积累了基础资料。     

原发性肾病综合征与HLA-A、HLA-B、HLA-DRB1基因相关性的研究

目的探讨HLA-A、HLA-B、HLA-DRB1位点基因与山西汉族激素抵抗肾病综合征(SRNS)的相关性。方法用聚合酶链反应序列特异性引物法,对30例SRNS患者(成人22例,儿童8例)和45例正常对照者进行了HLA-A、HLA-B、HLA-DRB1等位基因分型,并分析了A、B、DRB1基因在各组的分布。结果SRNS患者组HLA-B*15、B*44基因频率较正常对照组增高(P<0.05);成人SRNS患者组HLA-DRB1*07、B*44基因频率较正常对照组增高(P<0.05),成人SRNS患者组HLA-DRB1*15基因频率较正常对照组降低(P<0.05);儿童SRNS患者组HLA-DRB1*10基因频率较正常对照组增高(P<0.05)。结论SRNS发病可能与HLA-B*15、B*44基因有关,成人SRNS发病可能与HLA-DRB1*07、B*44基因有关,HLA-DRB1*15对成人SRNS发病可能有保护作用,儿童SRNS发病可能与HLA-DRB1*10基因有关;HLA与SRNS的相关性不仅与人种、国家和地区有关,还可能与发病年龄有关。     

西宁地区汉族人群HLA-A、B和DRB1等位基因多态性分析

目的：分析西宁地区汉族人群mA-A、B和DRB1位点等位基因多态性特点。方法：采用序列特异性引物聚合酶链反应技术对西宁地区73名健康无血缘关系的汉族个体mA-A、B和DRBl基因座进行分型，并与国内其他地区汉族人群进行比较。结果：西宁汉族人群中mA-A基因座共检出11个等位基因，以A02、A11、A30、A33基因最常见；mA-B基因座共检出20个等位基因，以B13、B15、B37、1740、1346、B58基因最为常见；mA-DRB基因座共检出17个等位基因，最多见的基因为DRB1＊03、DRB1＊04、DRB1＊09、DRB1＊12、DRB1＊13、DRB3、DRB4。结论：青海汉族HLA有不同于其他地区汉族的独特性。     

山东省烟台和威海地区汉族HLA-A、B和DRB1等位基因多态性及遗传距离分析

目的 分析山东省烟台和威海地区汉族人群人类白细胞抗原(human leukocyte antigen,HLA)-A、B、DRB1等位基因的多态性分布特征,并探讨该人群与其他人群的亲缘关系.方法 应用聚合酶链反应-序列特异性寡核苷酸探针方法(polymerase chain reaction-sequence specific olignucleotide probe,PCR-SSOP)对山东省烟台和威海地区4062名无亲缘关系的汉族健康个体进行HLA-A、B、DRB1基因分型.采用Arlequin3.5软件计算HLA等位基因频率、单倍型频率和连锁不平衡参数,按内氏公式计算出不同人群之间的遗传距离,并利用Mega5.0软件构建系统发生树.结果 该人群HLA-A、B、DRB1等位基因分布均符合Hardy-Weinberg平衡(P＞0.1).3个基因座分别检出18、33和13个等位基因,其中等位基因频率分布最高的分别是A* 02 (0.2935)、B* 15 (0.1485)和DRB1* 15 (0.1621);最常见的单倍型为A* 30-B* 13-DRB1* 07(0.0649),A* 33-B* 58、A*66-DRB1* 13、B*08-DRB1* 03呈现最强的连锁不平衡;山东省烟台和威海汉族人群与吉林省汉族人群遗传距离最小,为0.0034.结论 山东省烟台和威海地区汉族人群HLA-A、B、DRB1等位基因和单倍型具有较高的遗传多态性,该人群与吉林汉族人群亲缘关系最近.     

云南昆明彝族和汉族儿童HLA-DRB1等位基因的多态性研究

目的研究昆明彝族和汉族儿童HLA-DRB1基因的多态性,探讨其在昆明彝族和汉族人群中的遗传特征。方法应用PCR-SSP基因分型技术,对云南昆明地区70名彝族和72名汉族健康儿童进行了HLA-DRB1位点的基因分型。结果昆明彝族儿童HLA-DRB1位点共检出了12种等位基因,其中以HLA-DRB1*12(33.57％)、DRB1*0901(11.43％)、DRB1*04(11.43％)较常见,其它基因频率大于5％的等位基因还有HLA-DRB1*01(8.57％)、DRB1*11(7.86％)、DRB1*14(7.14％)、DRB1*15(7.14％)、DRB1*08(5％);昆明汉族儿童HLA-DRB1位点共检出了12种等位基因,其中以HLA-DRB1*12(20.14％)、DRB1*0901(19.44％)、DRB1*04(18.06％)较常见,其他基因频率大于10％的等位基因还有HLA-DRB1*08(11.11％)、DRB1*15(10.42％);与北方汉族人群、南方汉族人群HLA-DRB1等位基因分布进行了比较,均有显著性差异(P<0.001)。结论昆明彝族和汉族HLA基因多态性分布有其特点,他们既不同于北方汉族人群也不同南方汉族人群,有其独特性。可能与复杂的民族迁移历史和民族融合及云南独特的地理环境有关。     

HLA-A、HLA-B、DRB1等位基因多态性与中国北方汉族肺癌患者遗传易感相关性的研究

目的探讨中国北方汉族人中HLA-A、B、DRB1等位基因与肺癌遗传易感性间的关系。方法采用测序分型技术(sequence-based typing,SBT)技术,对无血缘关系的籍贯为中国北方的140名肺癌患者及483名健康志愿者的HLA-A、B、DRB1基因进行检测。arlequin软件(ver2.000)及SPSS软件进行统计分析。结果 A*2601、B*1518、B*3802、DRB1*0401、DRB1*0402、DRB1*1201在肺癌病人中频率显著性高于正常对照,P值分别为0.021、0.001、0.015、0.021、0.010和0.046,OR值分别为3.513、3.842、2.715、3.512、13.986、1.828;HLA-DRB1*1001、DRB1*1302在肺癌病人中频率显著性低于正常对照,P值分别为0.017和0.014,OR值分别为0.135和0.122。单倍型HLA-A*0207-B*4601-DRB1*0901、HLA-A*0206-B*5101在肺癌病人中频率显著性高于正常对照,P值分别为0.034和0.006,OR值分别为2.348和3.969;单倍型HLA-A*110...     

中国山东省威海、莱芜地区健康人群HLA-A、B、DRB1等位基因频率多态性调查

目的:分析人类白细胞抗原基因频率在山东省威海、莱芜地区健康人群中的遗传特征及其人群间分布的差异。方法:采用聚合酶链反应-序列特异性引物(PCR-SSP)方法对300名健康献血者进行HLA-A、B、DRB1分型。结果:共检出14个HLA-A等位基因,34个B等位基因,13个DRB1等位基因。比较威海和莱芜地区HLA人群基因频率差异为威海地区A*32基因频率显著高于莱芜地区(P<0.05),莱芜地区HLA-B*27基因频率显著高于威海地区(P<0.05)。结论:威海、莱芜地区人群很好的体现了中国北方人群的HLA基因型分布特点,同时也具有其自身的特殊性。这些比较数据为寻找HLA相合的无亲缘关系造血干细胞供者提供了重要的遗传学信息。     

小儿急性淋巴细胞白血病与HLA基因多态性相关性的研究

目的:对小儿急性淋巴细胞白血病患者进行HLA基因多态性分型,寻找急性淋巴细胞白血病的易感基因.方法:采用特异性寡核苷酸探针杂交(PCR/SSO)法,对儿童急性淋巴细胞白血病患者和健康对照组进行HLA-A、B、DRB1基因分型.结果:在儿童急性淋巴细胞白血病患者中HLA-A01、A02、HLA-DRB1*01、HLA-DRB1*15基因位点较对照组明显升高(P<0.05).A11、A33、HLA-DRB1*03基因位点频率较对照组降低(P<0.05).其中HLA-A01、HLA-DRB1*01、HLA-DRB1*15基因位点相对危险率RR>4,而A11、A33、HLA-DRB1*03基因位点相对危险率RR<1.结论:HLA-A01、A02、A33、HLA-DRB1*01、DRB1*03、DRB1*15与小儿急性淋巴细胞白血病有相关性.其中HLA-A01、HLA-DRB1*01、HLA-DRB1*15对儿童白血病有遗传易感性.A11、A33、HLA-DRB1*03则对青海地区汉族小儿急性淋巴细胞白血病的发生有拮抗作用.     

Distribution of human leukocyte antigen alleles and haplotypes in Oroqen and Ewenki nationality minority in Inner Mongolia Autonomous Region of China

The frequencies of the human leukocyte antigen alleles HLA-A,-B, DRB1 and the A-B, A-DRB1, B-DRB1, A-B-DRB1 haplotypes were investigated through means of PCR-based reverse line-strip sequence specific oligonucleotide hybridization on 108 Oroqen and 104 Ewenki nationality unrelated healthy individuals from the Inner Mongolia Autonomous Region of China. A total of thirteen different HLA-A alleles, 21 different HLA-B alleles and 13 different HLA-DRB1 alleles were detected in the Oroqen ethnic group and the most frequent HLA alleles found were A*24(35.65%), B*15(17.92%), and DRB1*09(17.59%), respectively. The common HLA-A-B-DRB1 haplotypes were A*24-B*40-DRB1*09(5.09%), A*24-B*48-DRB1*12(2.78%) and A*24-B*51-DRB1*04(2.78%); and the HLA-A*33-B*58, A*30-B*13, A*01-B*37, A*33-DRB1*03, A*01-DRB1*10, A*30-DRB1*07, B*37-DRB1*10, B*58-DRB1*03, B*38-DRB1*08, B*13-DRB1*07 were significant positive linkage disequilibrium in the Oroqen nationality group. In total, 14 different HLA-A alleles, 27 B alleles and 12 DRB1 alleles were found in Ewenki nationality group, and the most frequent HLA alleles found were A*24(24.49%), B*40(17.35%), and DRB1*04(14.80%), respectively. The common HLA-A-B-DRB1 haplotypes were A*33-B*58-DRB1*03(6.25%), A*01-B*51-DRB1*11(2.88%) and A*24-B*40-DRB1*09(2.88%); the HLA-A*33-B*58, A*29-B*44, A*03-B*52, A*33-DRB1*03, A*29-DRB1*07, A*24-DRB1*09, B*58-DRB1*03, B*08-DRB1*03, B*46-DRB1*09 were significant positive linkage disequilibrium in Ewenki nationality group. The distribution of HLA A,-B, DRB1, alleles haplotypes frequencies and phylogenetic tree indicated that the Oroqen and Ewenki population groups belongs to northern group of China, together as a group cluster.     

HLA-A、B、DRB1等位基因多态性与中国南方鼻咽癌的相关性研究

目的：探讨南方人群中鼻咽癌（NPC）易感性与HLA多态性之间的关联。方法：应用聚合酶链反应／序列特异性引物（PCR-SSP）方法对35例NPC患者及60例正常对照进行HLA-A、HLA-B及DRBI基因分型。结果：NPC患者的HLA-A＊02、HLA-B＊58及HLA-DRBI＊03基因位点的频率高于正常对照组，HLA-B＊40基因位点的频率低于正常对照组。结论：HLA-A＊02、HLA—B＊58及HLA—DRB1＊03可能是NPC的易感性基因，HLA-B＊40可能是NPC的保护性基因。     

山西汉族人群HLA-A、-B、-DRB1基因多态性研究

目的 调查山西汉族人群HLA-A、-B、DRB1基因多态性，获得完整准确的遗传学数据。方法 应用聚合酶链反应，序列特异性引物方法对7440名健康、无血缘关系的山西汉族个体进行HLA—A、-B、-DRB1基因型检测，并与不同人群等位基因进行比较。结果 检出A等位基因18个，B等位基因40个，DRB1等位基因13个，其中A＊02、A＊24、A＊11、A＊01、A＊03、B＊13、B＊51、B＊15、B＊40、B＊35、DRB1＊15、DR＊09、DR＊1：2、DR＊04、DR＊07等位基因频率分布较高。结论 山西汉族人群HLA—A，-B，-DRB1基因具有中国北方汉族人群共有的遗传特征，但也有其自身的分布特点。     

Human leukocyte antigen class I and class II allele frequencies and HIV-1 infection associations in a Chinese cohort

China has one of the most rapidly spreading HIV-1 epidemics. To develop a vaccine targeted to specific human leukocyte antigen (HLA) epitopes in this population, allele distribution analysis is needed. We performed low-resolution class I and II HLA typing of a cohort of 393 subjects from mainland China using a polymerase chain reaction with sequence-specific primers (PCR-SSPs). We found 10 class I alleles present in more than 10% of the population: HLA-A*02, HLA-A*11, HLA-A*24, HLA-B*13, HLA-B*15, HLA-B*40, HLA-Cw*03, HLA-Cw*07, HLA-Cw*01, and HLA-Cw*06. Several class II alleles were found at high frequency (>or=10%): HLA-DRB3, HLA-DRB4, HLA-DRB5, HLA-DRB1*0701, HLA-DRB1*1501, HLA-DRB1*0401, HLA-DRB1*0901, HLA-DRB1*1201, HLA-DQB1*0601, HLA-DQB1*0301, HLA-DQB1*0201, HLA-DQB1*0501, and HLA-DQB*0303. We also estimated 2- and 3-locus haplotype frequencies. Because this cohort contained 280 HIV-1-seropositive and 113 HIV-1-seronegative individuals, we compared allele and haplotype frequencies between the infected and control groups to explore correlations between HLA antigens and susceptibility/resistance to HIV infection. The HLA-B*14 allele was only found in the HIV-1-seropositive group, and many 2-locus haplotypes were significantly overrepresented in this group: HLA-B*14/Cw*08, HLA-B*51/Cw*14, HLA-A*02/B*13, HLA-A*31/Cw*14, HLA-A*02/Cw*06, and the class II haplotype HLA-DRB1*1301/DQB1*0601. Alleles significantly increased in the HIV-1-seronegative controls were HLA-B*44, HLA-Cw*04, and HLA-DRB1*1402. Overrepresented 2-locus haplotypes in the control group were HLA-B*44/Cw*04, HLA-A*31/Cw*03, HLA-A*03/Cw*07, HLA-A*11/B*13, HLA-A*11/B*38, HLA-A*24/B*52, and HLA-A*11/Cw*01. The 3-locus haplotypes HLA-A*24/Cw*03/B*40 and HLA-A*02/B*15/DRB1*1201 were found to be increased significantly in the control group. These data contribute to the database of allele frequencies and associations with HIV infection in the Chinese population.     

HLA-A, HLA-B, and HLA-DRB1 alleles and haplotypes in Naxi and Han populations in southwestern China (Yunnan province)

The frequencies of the human leukocyte antigen alleles HLA-A, HLA-B, and HLA-DRB1 and the A-B-DRB1, A-B, and B-DRB1 haplotypes were studied in Naxi and Yunnan Han populations using polymerase chain reaction (PCR)-sequence-specific amplification for alleles A and B and a PCR-microtiter plate hybridization method for the DRB1 allele. A total of 8 A, 19 B, and 30 DRB1 alleles were found in the Naxi population, and 15 A, 21 B, and 36 DRB1 alleles were found in Yunnan Han population. The common A-B-DRB1 haplotypes in the Naxi population were A*24-B*15-DRB1*1202, A*11-B*15-DRB1*0405, A*11-B*15-DRB1*1202, A*11-B*38-DRB1*08032, and A*11-B*55-DRB1*0405; the common A-B haplotypes were A*11-B*15, A*11-B*38, and A*24-B*15; and the common B-DRB1 haplotypes were B*15-DRB1*1202, B*38-DRB1*08032, and B*48-DRB1*1201. In the Yunnan Han population, the common A-B-DRB1 haplotypes were A*24-B*15-DRB1*1501, A*24-B*46-DRB1*08032, and A*24-B*15-DRB1*1201; the common A-B haplotypes were A*24-B*15, A*24-B*46, and A*34-B*46; and the common B-DRB1 haplotypes were B*15-DRB1*1501, B*46-DRB1*09012, and B*46-DRB1*1401. Phylogenetic tree and principal component analyzes based on HLA-A, HLA-B, and DRB1 allele frequencies suggested that the Naxi ethnic group belongs to the southern Chinese groups, while the Yunnan Han population is a characteristic population located intermediate between northern and southern Chinese groups, although they live in the southwest of China.     

HLA-A, HLA-B, and HLA-DRB1 allele distribution in a large Armenian population sample

Human leukocyte antigen (HLA)-A, HLA-B, and HLA-DRB1 gene frequencies were investigated in 4279 unrelated Armenian bone marrow donors. HLA alleles were defined by using PCR amplification with sequence specific primers (PCR-SSP) high- and low-resolution kits. The aim of this study was to examine the HLA diversity at the high-resolution level in a large Armenian population sample, and to compare HLA allele group distribution in Armenian subpopulations. The most frequently observed alleles in the HLA class I were HLA-A*0201, A*0101, A*2402, A*0301, HLA-B*5101, HLA-B*3501, and B*4901. Among DRB1 alleles, high frequencies of DRB1*1104 and DRB1*1501 were observed, followed by DRB1*1101 and DRB1*1401. The most common three-locus haplotype found in the Armenian population was A*33-B*14-DRB1*01, followed by A*03-B*35-DRB1*01. Our results show a similar distribution of alleles in Armenian subpopulations from different countries, and from different regions of the Republics of Armenia and Karabagh. The low level of genetic distances between subpopulations indicates a high level of population homogeneity, and the genetic distances between Armenians and other populations show Armenians as a distinct ethnic group relative to others, reflecting the fact that Armenians have been an 'isolated population' throughout centuries. This study is the first comprehensive investigation of HLA-allele group distribution in a subset of Armenian populations, and the first to provide HLA-allele and haplotype frequencies at a high-resolution level. It is a valuable reference for organ transplantation and for future studies of HLA-associated diseases in Armenian populations.     

西藏珞巴族HLA-A,-B基因多态性研究

目的调查西藏地区珞巴族群体HLA—A，—B基因的多态性。方法用聚合酶链反应-序列特异性寡核苷酸探针反向斑点杂交技术，对西藏林芝地区3代内无血缘关系的92个珞巴族健康个体进行了HLA—A，—B位点的基因分型。结果在HLA—A位点共检出10种等位基因，在HLA—B位点检出19种等位基因；在HLA—A位点高频等位基因是HLA—A*11、-A*02、-A*24，它们的频率分别为36．40％、25．50％、23．90％，这3种等位基因共占珞巴族可检出等位基因的85．80％。在HLA—B位点高频基因为HLA—B*40(频率为27．20％)、-B*15(11．40％)和-B*38(10．90％)，它们占等位基因的49．5％。结论珞巴族与其他各华人群体间都存在较大的差异，显示其HLA等位基因频率分布的民族独特性；但其HLA—A、—B等位基因多态性与藏族的很接近，这与民族学、历史学和社会学研究结果相一致。     

MHC class I and class II phenotype, gene, and haplotype frequencies in Greeks using molecular typing data

In the present study, DNA typing for HLA-A, C, B, DRB1, DRB3, DRB4, DRB5, DQA1, DQB1, and DPB1 was performed for 246 healthy, unrelated Greek volunteers of 20-59 years of age. Phenotype, genotype frequencies, Hardy-Weinberg equilibrium fit, and 3-locus haplotype frequencies for HLA-A, C, B, HLA-A, B, DRB1, HLA-DRB1, DQA1, DQB1, and HLA-DRB1, DQB1, DPB1 were calculated. Furthermore, linkage disequilibrium, deltas, relative deltas and p-values for significance of the deltas were defined. The population studied is in Hardy-Weinberg equilibrium, and many MHC haplotypes are in linkage disequilibrium. The most frequent specificities were HLA-A*02 (phenotype frequency = 44.3%) followed by HLA-A*24 (27.2%), HLA-B*51 (28.5%), HLA-B*18 (26.8%) and HLA-B*35 (26.4%) and HLA-Cw*04 (30.1%) and HLA-Cw*12 (26.8%). The most frequent MHC class II alleles were HLA-DRB1*1104 (34.1%), HLA-DQB1*0301 (54.5%) and HLA-DPB1*0401 with a phenotype frequency of 59.8%. The most prominent HLA-A, C, B haplotypes were HLA-A*24, Cw*04, B*35, and HLA-A*02, Cw*04, B*35, each of them observed in 21/246 individuals. The most frequent HLA-A, B, DRB1 haplotype was HLA-A*02, B*18, DRB1*1104 seen in 20/246 individuals, while the haplotype HLA-DRB1*1104, DQB1*0301, DPB1*0401 was found in 49/246 individuals. Finally, the haplotype DRB1*1104, DQA1*0501, DQB1*0301 was observed in 83/246 individuals. These results can be used for the estimation of the probability of finding a suitable haplotypically identical related or unrelated stem cell donor for patients of Greek ancestry. In addition, they can be used for HLA and disease association studies, genetic distance studies in the Balkan and Mediterranean area, paternity cases, and matching probability calculations for the optimal allocation of kidneys in Greece.