云南大理白族HLA-DRB1、-DQB1等位基因多态性分析

目的:了解白族人群人类白细胞抗原(Human leukocyte antigen,HLA) Ⅱ类基因-DRB1、-DQB1位点的遗传多态性.方法:采用PCR-SSP方法对124名云南大理洱源白族健康个体进行HLA-DRB1、-DQB1等位基因分型.结果:共检出21种DRB1等位基因,15种DQB1等位基因.其中主要的等位基因有DRB1*1202(26.61%)、DRB1*0901(13.89%)、DRB1*0803(9.92%)、DQB1*0301(31.45%)、DQB1*0601(10.08%)和DQB1*0401(8.06%).主要单倍型包括DRB1*1202-DQB1*0301(20.08%)和DRB1*0803-DQB1*0601(7.19%).结论:大理白族同其他10个民族群体HLA-DRB1、DQB1频率比较和聚类分析显示大理白族属于中国南方人群,但与其他群体存在一定的遗传距离,有着独特的HLA基因特性,对群体遗传及疾病相关性研究具有参考意义.     

云南昆明白族和汉族儿童HLA-DRB1、HLA-DQB1位点基因多态性比较

目的研究昆明白族、汉族人群HLA—DRB1、HLA-DQB1位点的遗传特征。方法采用序列特异性引物（PCR-SSP）方法对昆明70名白族、72名汉族儿童的HLA-DRB1、HLA-DQB1位点等位基因进行分析。结果在HLA-DRB1位点上,昆明白族儿童共检出13个等位基因,汉族检出12个;在HLA-DQB1位点上两组均检出7个等位基因。组间比较HLA—DRB1／DQB1等位基因总体分布及诸多等位基因频率均有显著差异。结论昆明白族和汉族儿童在HLA—DRB1、DQB1等位基因频率分布上既有相似性,又存在差异性。     

用聚合酶链反应-直接测序分型法研究江苏汉族人群HLA-DQA1和DQB1基因多态性

目的检测江苏地区汉族人群HLA-DQA1和DQB1等位基因及单倍型的频率，分析该人群DQA1、DQB1基因多态性和DQA1-DQB1单倍型特点。方法应用聚合酶链反应-直接测序分型法（PCR-sequence-based typing ，PCR-SBT）方法对100名健康、无血缘关系的江苏汉族人群的HLA-DQA1和DQB1进行基因分型。结果共检出7个DQA1等位基因和13个DQB1等位基因。DQA1等位基因中，DQA1＊0301／02／03的基因频率最高（29．5％），其次为DQA1＊0501（18．5％）、DQA1＊0102（17．0％）、DQA1＊0201（12．5％）；DQB1等位基因中，DQB1＊0201／02（21．5％）、DQB1＊0301／09（14．5％）、DQB1＊0303（13．5％）和DQB1＊0603（11．5％）最为常见。分析得出30种DQA1-DQB1单倍型，DQA1＊0301／02／03-DQB1＊0303（12．5％）、DQA1＊0201．DOB1＊0201／02（10．5％）、DQA1＊0501-DQB1＊0201／02（9．5％）、DQA1＊0501-DQB1＊0301／09（7．0％）为常见的单倍型。结论江苏汉族人群HLA-DQA1和DQB1基因具有较为丰富的多态性，基因频率分布具有中国北方群体的特征且具有一定的独特性。     

遵义地区汉族HLA-DRB1、DQB1等位基因多态性的研究

目的：从基因水平调查遵义地区汉族人群HLA-DRB1、DQB1等位基因频率,并了解其多态性分布状况。方法：应用聚合酶链反应-序列特异性引物（PCR-SSP）方法对遵义汉族200名健康个体进行HLA-DRB1、DQB1等位基因分型。结果：遵义地区汉族HLA-DRB1、DQB1等位基因频率分布,在中低分辨水平,共检出13个DRB1基因,7个DQB1基因,DRB1＊09、DRB1＊08及DQB1＊05基因频率相对较高;DRB1＊10及DQB1＊04基因频率相对较低。与我国北方、南方汉族比较,更接近南方汉族人群。结论：遵义汉族人群HLA-DRB1、DQB1基因具有较为丰富的多态性,其分布符合南方汉族的特点,可能与重庆汉族人群有较为密切的民族融合。     

青海土族、撒拉族HLA-DQA1和-DQB1基因多态性探讨

目的 :检测青海土族和撒拉族健康个体HLA DQA1和 DQB1等位基因频率 ,了解和分析这两个民族的HLA DQA1和 DQB1基因多态性。方法 :用PCR SSO方法检测 132名土族和 80名撒拉族健康个体的HLA DQA1和 DQB1的基因多态性 ,并将所得结果与国内其他民族的同类资料进行比较。结果 :土族和撒拉族在HLA DQA1和 DQB1高频率等位基因分布上有共同点 ,也有一定的独特性。这两种民族HLA DQA1 0 10 2和 0 5 0 1以及DQB1 0 2 0 1、 0 30 1、 0 4 0 2和 0 6 0 2基因分布频率上具有显著性差异。结论 :土族和撒拉族与北方诸民族的等位基因频率接近 ,而与其他南方诸民族的差异相对较大。     

应用PCR/SSO方法进行西安汉族人群HLA-DR,DQ位点的DNA分型

对80例西安汉族人HLA第Ⅱ类抗原的DRB、DQA1和DQB1的等位基因多态性进行分析,发现的特异性包括HLA-DRB1 27种,DRB3 3种,DRB5 3种,DQA1 8种,DQB1 14种,共55种。按血清学所定的特异性将DRB1位点的等位基因对应分类,出现频率由高到低排列依次为DR5,DR2,DR6,DR9,DR4,DR7,DR8,DR3,DR1,DR10。在DQA1和DQB1等位基因中,DQA1*0301和DQB1*0301、DQB1*0303的频率是最高的。和以前所报道的北方人群中DRB1*1301与DQB1*0604相连锁的结论不同的是,该人群中DRB1*1301与DQB1*0603相连锁,且未发现北方人群中所报道的DRB1*1403。这一结论与地处南方     

用PCR-SSO检测IgA肾炎HLA-DRB1、DQA1、DQB1等位基因及其临床意义

利用聚合酶链区应（PCR）和序列特异性寡核苷酸（SSO）探针技术对47例经临床及免疫荧光证实的IgA肾病（IgAN）患者HLA-DRB1、DQA1、DQB1等位基因频率进行了检测。结果显示IgAN患者组DR4基因频率明显高于正常人组,相反DQB1*0602基因频率与对照组相比呈显著下降。IgAN患者中蛋白尿组DR4基因频率显著高于对照组,而肉眼血尿组与对照组无显著差异。约 1/4 DR4基因阳性的IgAN病理表现为局灶节段硬化性肾小球肾炎。 IgAN肾衰组DR4阳性的发生率显著高于非肾衰组。由此可见,IgAN中HLA-DR4基因频率而著增高, DR4阳性IgAN临床多表现蛋白尿,易发生肾衰,病理多呈局灶节段硬化型;DQB1*0602等位基因对IgAN可能有一定抵抗性。这些研究结果提示IgAN有免疫遗传的背景。     

人白细胞抗原(HLA)-DRB1 *0901、1501和HLA-DQB1 *0301、0602与新疆哈萨克族食管鳞状细胞癌相关性

目的 从基因水平探讨新疆哈萨克族食管鳞状细胞癌HLA-DRB1和DQB1等位基因的遗传易感性,为寻找哈萨克族食管鳞状细胞癌的易感基因提供线索.方法 运用序列特异性引物聚合酶链反应(PCR-SSP)技术,检测新疆哈萨克族食管鳞状细胞癌200例、正常食管黏膜177例HLA-DRB1 *0901、1501和DQB1 *0301、0602等位基因的分布.结果 新疆哈萨克族食管鳞状细胞癌患者HLA-DRB1 *1501、DQB1 *0301和DQB1 *0602基因分布频率(0.455,0.760和0.690)明显高于177例正常食管黏膜上述等位基因分布频率(0.232,0.520,0.554),差异具有统计学意义(OR=2.78,2.93,1.80;P值均<0.05);新疆哈萨克族食管鳞状细胞癌HLA-DRB1 *0901等位基因分布频率(0.105)与哈萨克族正常食管黏膜(0.102)对比,差异无统计学意义(OR=11036,P>0.05);HLA-DQB1 *0602等位基因的分布频率在哈萨克族中低分化鳞状细胞癌组中的分布频率(0.742)高于高分化鳞状细胞癌组(0.597),差异具有统计学意义(P<0.05).结论 HLA-DRB1 *1501、DQB1 *0301和DQB1 *0602可能是哈萨克族食管鳞状细胞癌的易感基因,HLA-DQB1 *0602与哈萨克族食管鳞状细胞癌的分化程度有关.     

应用PCR/SSO方法分析湖南藉汉族人HLA—DQ位点DNA的多态性

本文用Ⅱth IHWC 提供的PCR 引物,扩增DQA1和DQB1多态性第二外显子序列,分别以17种和23种SSO 探针进行斑点杂交.分析10个DQA1等位基因和17个DQB1等位基因在湖南藉汉族人群中的分布情况.发现大多数DQA1和DQB1等位基因阳性,并与白种人的基因频率不同。提供了一种更简单、更精确的DQ 分型方法。     

昆明白族和彝族人群HLA-DRB1/DQB1等位基因遗传特点及频率分布比较

目的研究昆明白族和彝族儿童HLA-DRB1／DQB1等位基因多态性,分析比较昆明白族和彝族人群的遗传特点。方法采用PCR-SSP基因分型技术,分别对70名白族儿童和70名彝族儿童进行HLA-DRB1／DQB1基因分型。结果昆明白族儿童在HLA-DRB1位点上共检出13种等位基因,依次为DRB1*08(20．7％)、*04(16．4％)、*12(16．4％)、*15(8．57％)、*0901(8．57％)、*14 (6．43％)、*11(5．71％)、*16(5．00％)、*13(4．29％)、*07(2．86％)、*03(2．86％)、*01 (1．43％)、*10(0．71％);HLA-DQB1位点上共检出7种等位基因,依次为DQB1*0301(23．6％)、*06(21．4％)、*05(18．6％)、*04(18．6％)、*0303(7．14％)、*0302(6．43％)、*0201(4．29％)。彝族儿童在HLA-DRB1位点上共检出12种等位基因,依次为DRB1*12(33．57％)、*0901 (11．43％)、*04(11．43％)、*01(8．57％)、*11(7．86％)、*14(7．14％)、*15(7．14％)、*08 (5．00％)、*03(2．83％)、*13(2．14％)、*07(1．43％)、*16(1．43％);HIA-DQB1位点上共检出7种等位基因,依次为DQB1*0301(45％)、*05(22．14％)、*0303(12．14％)、*04(6．43％)、*06 (6．43％)、*0201(4．29％)、*0302(3．57％)。组间比较HLA-DRB1／DQB1等位基因总体分布及诸多等位基因频率均有显著差异。结论昆明白族和彝族人群HLA-DRB1／DQB1等位基因分布具有各自遗传特点。     

昆明彝族人群HLA-DRB1、DQB1基因多态性

目的　调查昆明彝族 HL A- DRB1、DQB1基因的多态性。方法　应用聚合酶链反应 -序列特异性引物基因分型技术 ,对昆明地区 70名彝族健康儿童进行了 HL A- DRB1、DQB1位点的基因分型。结果在 HL A- DRB1位点共检出了 12种等位基因 ,其中等位基因频率大于 10 %的依次为 HL A- DRB1* 12 (33.5 7% )、DRB1* 0 90 1(11.4 3% )、DRB1* 0 4 (11.4 3% ) ,等位基因频率大于 5 %而小于 10 %的依次为 DRB1* 0 1(8.5 7% )、DRB1* 11(7.86 % )、DRB1* 14 (7.14 % )、DRB1* 15 (7.14 % )、DRB1* 0 8(5 % ) ,等位基因频率小于 5 %依次为 HL A- DRB1* 0 3(2 .86 % )、DRB1* 13(2 .14 % )、DRB1* 0 7(1.4 3% )、DRB1* 16 (1.4 3% )。在 HL A- DQB1位点共检出了 7种等位基因 ,其中等位基因频率大于 10 %的依次为 HL A- DQB1*0 30 1(45 % )、DQB1* 0 5 (2 2 .14 % )、DQB1* 0 30 3(12 .14 % ) ,等位基因频率大于 5 %而小于 10 %的依次为DQB1* 0 4 (6 .4 3% )、DQB1* 0 6 (6 .4 3% ) ,等位基因频率小于 5 %的依次为 DQB1* 0 2 0 1(4.2 9% )、DQB1* 0 30 2 (3.5 7% )。结论　昆明彝族 HL A基因多态性分布不同于北方汉族人群 ,也不同于南方汉族人群 ,有其独特性。     

HLA-DRB1, DQA1 and DQB1 DNA polymorphisms in healthy Algerian and genetic relationships with other populations

Abstract: This study presents the results of HLA-DRB1, -DQA1, and -DQB1 sequence-specific oligonucleotide probe (SSOP) typings for a population sample of 47 individuals originating from Western Algeria. Allele and haplotype frequencies, as well as linkage disequilibria are computed by the standard methods used for the XIth International Histocompatibility Workshop data. A total of 24 alleles are detected at the DRB1 locus, where a very high heterozygosity level (0.914) is found. The highest DRB1 frequencies are 0.160, DRB1*1101, and 0.138, for DRB1*0301 and DRB1*0701. The DQA1 and DQB1 loci are less polymorphic. Among the 8 DQA1 alleles detected, DQA1*0501 is highly predominant with a frequency of 0.383. Thirteen DQB1 alleles are observed among which DQB1*0301 and DQB1*0201 are the most frequent (0.351 and 0.245, respectively). Three haplotypes predominate clearly: DRB1*1101-DQA1*0501-DQB1*0301 (0.138), DRB1*0701-DQA1*0201-DQB1*0201 (0.128) and DRB1*0301-DQA1*0501-DQB1*0201 (0.117). The two latter are among the most frequent haplotypes found in European and North American Caucasoid populations, but the DQA1*0501-DQB1*0201 association is not significant in Algerians. The genetic distances computed for each locus among a set of populations from different continents are significantly correlated to geography. They indicate that the Algerians are very close to South European populations, particularly to Sardinians, Italians, Romanians and French, with some intermediate characteristics between Europeans and sub-Saharan Africans. These results may serve as reference for future studies of HLA and disease in the Algerian population.     

HLA-DRB1, DQA1, DQB1 DNA polymorphism in the Bulgarian population

We describe for the first time the use of PCR based techniques to analyze the MHC class II polymorphism of the Bulgarian population. The present study provides the HLA-DRB, DQB1 allele frequencies in 116 Bulgarian individuals and DQA1 alleles frequencies in 100 subjects. DNA from these individuals was typed for DRB and DQB1 typed by the PCR- Allele Specific Amplification (PCR-ASA) method and DQA1 by PCR followed by hybridization using Sequence Specific Oligonucleotides (PCR-SSO). Allele and haplo-type frequencies and linkage disequilibria are computed by the standard methods used for the XIth International Histocompatibility Workshop. The highest frequencies are 0.159, 0.109 and 0.085 for DRB1*1101, DRB1*1601 and DRB1*1301 respectively. Among the eight DQA1 alleles detected, DQA1*0501 (0.344) is found to be much more frequent than the two most frequent alleles DQA1*0102 (0.225) and DQA1*0101 (0.151). Twelve DQB1 alleles are found and three of them, DQB1*0301 (0.280), DQB1*0502 (0.153) and DQB1*0201 (0.133) showed the highest frequencies. The haplo-type DRB1*1101-DQA1*0501-DQB1*0301 (0.079) predominate clearly, followed by DRB1*1601-DQA1*0102-DDQB1*0502 (0.055) and DRB1*0101-DQA1*0101-DQB1*0501. These results indicate that the Bulgarian population is characterized by features representative of the European anthropological type with a substantial contribution from the Southern Belt of Europe.     

Polymorphism of HLA-A, -B, -DRB1, -DQA1 and -DQB1 haplotypes in a Croatian population.

We describe for the first time extended haplotypes in a Croatian population. The present study gives the HLA-A, -B, -DRB1, -DQA1 and -DQB1 allele and haplotype frequencies in 105 families with at least two offspring. All individuals were studied by conventional serology for HLA class I antigens (A and B), while class II alleles (DRB1, DQA1, DQB1) were typed using the PCR-SSOP method. HLA genotyping was performed by segregation in all 105 families. For extended haplotype analysis, 420 independent parental haplotypes were included. Fourteen HLA-A, 18 HLA-B, 28 DRB1, 9 DQA1 and 11 DQB1 alleles were found in the studied population. Most of the DRB1 alleles in our population had an exclusive association with one specific DQA1-DQB1 combination. This strong linkage disequilibrium within the HLA class II region is often extended to the HLA-B locus. A total of 10 HLA-A, -B, -DRB1, -DQA1, -DQB1 haplotypes were observed with a frequency 相似文献   

Polymorphism of HLA‐A, ‐B, ‐DRB1, ‐DQA1 and ‐DQB1 haplotypes in a Croatian population

We describe for the first time extended haplotypes in a Croatian population. The present study gives the HLA‐A, ‐B, ‐DRB1, ‐DQA1 and ‐DQB1 allele and haplotype frequencies in 105 families with at least two offspring. All individuals were studied by conventional serology for HLA class I antigens (A and B), while class II alleles (DRB1, DQA1, DQB1) were typed using the PCR–SSOP method. HLA genotyping was performed by segregation in all 105 families. For extended haplotype analysis, 420 independent parental haplotypes were included. Fourteen HLA‐A, 18 HLA‐B, 28 DRB1, 9 DQA1 and 11 DQB1 alleles were found in the studied population. Most of the DRB1 alleles in our population had an exclusive association with one specific DQA1‐DQB1 combination. This strong linkage disequilibrium within the HLA class II region is often extended to the HLA‐B locus. A total of 10 HLA‐A, ‐B, ‐DRB1, ‐DQA1, ‐DQB1 haplotypes were observed with a frequency ≤ 1.0%. The three most frequent haplotypes were HLA‐A1, B8, DRB1*0301, DQA1*0501, DQB1*0201; HLA‐A3, B7, DRB1*1501, DQA1*0102, DQB1*0602 and HLA‐A24, B44, DRB1*0701, DQA1*0201, DQB1*02. These results should provide a useful reference for further anthropological studies, transplantation studies, and studies of associations between HLA and diseases.     

HLA-DR, -DQA1 and -DQB1 associations in Australian multiple sclerosis patients

Molecular genotyping for the major histocompatibility complex (MHC) class II loci, HLA-DRB1, -DQB1 and -DQA1, in 100 patients with relapsing/remitting multiple scerlosis (MS) demonstrated an association with the HLA-DR2, DQw6-associated alleles DRB1*1501, DQB1*0602 and DQA1*0102, thereby extending this finding among MS patients in several countries to an Australian population. Analysis by the relative pre-dispositional effect (RPE) method provided no evidence for a second susceptibility allele at either DQA1 or DQB1. However, our data and that of others suggest a negative association with DQA1*0101. Associations were found with DQB1 alleles sharing sequence homology with DQB1*0602, with DQB1 alleles encoding leucine at residue 26 (Leu 26), with DQA1 alleles encoding glutamine at residue 34 (Gln 34) and with Leu 26 plus Gln 34 alleles, but each was shown by two-loci linkage analysis to be secondary to the DRB1*1501, DQB1*0602, DQA1*0102 association. The recently reported negative association with DQA1 alleles encoding phenylalanine at amino acid 25, leucine at amino acid 69 and arginine at amino acid 52 was not found in this study, although there was a trend towards reduced phenylalanine at amino acid 25. The determination at a molecular level of an explanation for the world-wide association with these alleles remains elusive despite major advances in MHC typing.     

Molecular analysis of HLA-DRB1, -DQA1 and -DQB1 polymorphism in Turkey

We report the evaluation of MHC class II polymorphism in the population of Turkey. HLA-DRB1, -DQA1 and -DQB1 have been investigated by polymerase chain reaction and sequence-specific oligonucleotide probe hybridisations (PCR/SSO) and sequence-specific priming (SSP) in 250 randomly selected healthy individuals. We also report the allelic distribution of these genes. The most frequent alleles detected were DRB1*1101 (0.104), *0301 (0.092), *0701 (0.090), DQA1*0501 (0.334), *0102 (0.164) and *03 (0.148) and DQB1*0301 (0.256), *02 (0.164), *0302 (0.128). The frequent 'putative' three-locus haplotypes carry the most frequent alleles at these loci. The most frequently detected class II "haplotypes" are DRB1*1101 DQA1*0501 DQB1*0301 (0.100), DRB1*0301 DQA1*0501 DQB1*02 (0.092) and DRB1*0701 DQA1*0201 DQB1*02 (0.072). The distribution of alleles and 'putative' haplotypes has shown common features with other Mediterranean populations. The results extend the HLA map to another Mediterranean country and provide a database for further HLA-disease association studies and transplantation applications.     

HLA class II allele and haplotype distribution in a population from central Poland

We have studied the distribution of HLA DRB1, DQA1, DQB1 alleles and haplotypes in a sample of 103 unrelated healthy individuals from the region of Lodz in central Poland by the polymerase chain reaction and hybridization with allele-specific oligonucleotide probes (PCR-SSO). DRB1*0101, DRB1*07, DRB1*1501, DRB1*03 and DRB1*11 were the most frequent alleles at the DRB1 locus. The DRB1*04 group was observed at a high frequency, but only five out of the 19 DR4 subtypes tested were observed. The most frequent was DRB1*0401, followed by DRB1*0403, DRB1*0402, DRB1*0407 and DRB1*0417. Eight DQA1 alleles were found in this Polish population, among which DQA1*0501, DQA1*0101 and DQA1*0102 were the most frequent. At the DQB1 locus 13 alleles were found. Among them, four were present with frequencies above 10%: DQB1*0201, DQB1*0301, DQB1*0501 and DQB1*0602. Our results underline significant differences between the population of central Poland and populations of neighbouring countries such as Germany, Ukraine and the Czech Republic. This study will serve as a reference for further anthropological studies, as well as studies of associations between HLA and disease.     

西双版纳傣族及上海汉族群体HLA－DR2相关的DR／DQ单倍型分析

对４４名西双版纳傣族和９名上海地区汉族ＤＫ２阳性个体进行了与其相关的ＤＲ／ＤＱ单倍型组合的分析。傣族群体中ＤＲＢＩ－ＤＲ２亚型分布以＊１６０２与＊１５０２为最常见，其等位基因频率分别为４３．６％与，４０．０％和汉族群体中以＊１５０１为主明显不同。傣族群体中共检出１０种与ＤＲ２相关联的ＤＲ／ＤＱ单倍型；最常见的是ＤＲＢ１＊１６０２、ＤＲＢ５＊０１０１、ＤＱＡ１＊０１０２、ＤＱＢ１＊０５０２（３４．５％）与汉族及其他群体明显不同，本研究表明傣族不仅具有高频率的ＤＲ２，而且与ＤＲ２相关联的ＤＲＢ１、ＤＲＢ５、ＤＱＡ１、ＤＱＢ１单倍型组合有其独特性。     

Molecular genetic studies of HLA class II alleles in sarcoidosis

Abstract: Previous HLA serological studies showed positive associations of the DR52 antigen, the DR52-associated antigens (DR3, DR5 and DR6) and the DR8 antigen with sarcoidosis. To investigate the HLA alleles that may contribute to the genetic susceptibility to sarcoidosis at the DNA level, HLA-DRB1, -DRB3, -DQA1 and DQB1 genotyping using the polymerase chain reaction-restriction fragment length polymorphism (PCR-RFLP) method was performed in 63 Japanese patients with sarcoidosis. The frequencies of the DR52-associated DRB1 alleles (DRB1*11, DRB1*12 and DRB1*14 except DRB1*1302), DRB1*08, DRB3*0101, DQA1*0501 and DQB1*0301 were significantly increased in patients compared with healthy controls. The significant increase of DRB3*0101, DQA1*0501 and DQB1*0301 could be explained by linkage disequilibrium with the DR52-associated DRB1 alleles. It must be noted that the DR8 haplotype, which does not possess the DRB3 gene, also showed a significant increase in sarcoidosis. These results suggest that the HLA-alleles responsible for the susceptibility to sarcoidosis are located at the HLA-DRB1 locus rather than the HLA-DRB3, -DQA1 and -DQB1 loci. In contrast, DRB1*1302 may confer resistance to the disease.