共查询到19条相似文献,搜索用时 78 毫秒
1.
云南汉族系统性红斑狼疮与HLA-DRB1、DQA1、 DQB1相关性研究 总被引:9,自引:0,他引:9
系统性红斑狼疮 (systemic lupus erythem atosus,SL E)发病机理极为复杂。由于 HL A- 类抗原在免疫应答及调节中的重要作用 ,近年来 HL A基因多态性与疾病相关性一直是研究的热点。有研究显示 HL A- DR、DQ基因位点与 SL E的发病及某些类型自身抗体的形成密切相关 [1 ] 。我们采用 PCR-序列特异性引物 (sequence specific primer,SSP)技术进行 HL A-DRB1、DQA1、DQB1基因分型 ,研究云南汉族 SL E与以上等位基因的相关性 ,为进一步探讨 SL E发病机理提供重要的遗传学依据。1 对象与方法1.1 研究对象 病例组为云南籍汉… 相似文献
2.
HLA—DQA1,DQB1,DRB1*02,07,09等位基因及单倍型在华东地区汉?… 总被引:1,自引:0,他引:1
应用PCR-SSO方法,对华东地区汉族人群进行了HLA-DQA1,DQB1和DRB1*02,07,09基因分型,DQA1中以DQA1*0301基因频率最高,其次为*0501和0102,*0401最低,DQB1中以DQB1*0303频率最高,其次为*0.301,*0601和*0201,*0501,*0604和*0605最低;DR9基因频率较高,DR2中DRB1*1501占735,基因频率为0.085 相似文献
3.
应用PCR-RFLP技术,对新疆地区汉族健康群体进行了HLA-DQA1(49人)和-DQB1(47人)基因分型。在DQA18个等位基因中,DQA10301的基因频率最高(32.56%),0401最低(1.02%)。在DQB116个等位基因中,DQB10201(20.21%)、0301(15.96%)、0303(14.89%)为最常见;没有观察到05032、0504和0605。与河北固安县及江浙沪地区汉族群体进行比较,DQA1基因未发现存在差异。而DB10602(3.19%)与固安汉族(Pc=0.0144)和上海汉族(Pc=0.0140)有显著差异,DQB10503(8.52%)与上海汉族有显著差异(Pc=0.0216)。 相似文献
4.
迄今为止 ,贲门失弛缓症的病因未明。嗜神经病毒感染导致神经元退行性变可能引起本病 ,但电子显微镜检查迷走神经及壁内神经丛未发现病毒颗粒 ,且流行病学研究也不支持本病为感染性疾病。少数家庭中有多人患病 ,揭示可能与遗传有关。有研究显示贲门失驰缓症与HLA DQ1相关[1] ,患者体内发现壁内神经元抗体 ,这提示贲门失弛缓症发病与免疫有关 ,为进一步研究其免疫机制 ,我们对 30例贲门失弛缓症患者进行了HLA DQB1、DRB1等位基因频率检测。1 材料与方法1 1 研究对象 为湖北地区汉族人。贲门失弛缓症患者 30例 ,其中男性 18… 相似文献
5.
HLA-DRB1、DQB1基因与汉族人群寻常型天疱疮的相关性研究 总被引:4,自引:0,他引:4
目的 探讨 HL A- DRB1、DQB1位点基因在汉族人群寻常型天疱疮易感性中的作用。方法用序列特异性引物 -聚合酶链反应方法 ,对 6 1例寻常型天疱疮 (pemphigus vulgaris,PV)患者和 5 7名正常对照进行了 HL A- DRB1、DQB1等位基因的分型 ,并分析了 DRB1、DQB1基因在两组中的分布。结果 与正常对照组比较 ,PV组 DR4、DRB1* 14 (* 14 0 1、* 14 0 4、* 14 0 5 )基因频率明显增高 (Pc分别 <0 .0 5及P<0 .0 1) ,差异有显著性 ;PV组 DQB1* 0 5 0 3、DQB1* 0 30 2基因频率明显增高 (Pc均 <0 .0 5 ) ,差异有显著性。对 DR4阳性样本的组内基因亚型分型结果发现 ,PV组中 DRB1* 0 4 0 3、DRB1* 0 4 0 6频率显著增高(Pc<0 .0 5 ) ,差异有显著性。 PV患者组单倍型 HL A- DRB1* 0 4 ,DQB1* 0 30 2和 HL A- DRB1* 14 ,DQB1* 0 5 0 3频率明显增高 (P<0 .0 5 )。结论 HL A- DRB1* 0 4 ,DQB1* 0 30 2和 HL A- DRB1* 14 ,DQB1* 0 5 0 3可能是汉族人 PV推测的易感单倍型。 相似文献
7.
用PCR—RFLP方法研究新疆地区汉族HLA—DQA1和—DQB1基因多态性 总被引:6,自引:2,他引:6
应用PCR-RFLP技术,对新疆地区汉族健康群体进行了HLA-DQA1(49人)和DQB1(47人)基因分型。在DQA118个等位基因中,DQA1*0301的基因频率最高(32.56%),*0401最低(1.02%)。在DQB116个等位基因中,DQB1*0201(20.21%),*0301(15.96%)、*0303(14.89%)为最常见;没有观察到*05032、*0504和*0605。与河北 相似文献
8.
北方汉族HLA-DRB1、DQB1基因多态性的研究 总被引:19,自引:4,他引:15
目的从基因水平了解北方汉族HLA-DRB1、DQB1多态性分布,获得更完整、更准确的遗传学数据。方法应用PCR-SSP方法对107名北方汉族健康人进行了HLA-DRB1、DQB1等位基因分型。结果鉴定了14个DRB1等位基因,9个DQB1等位基因,包括了DR、DQ位点的全部血清学特异性。结论提供了一套比较完整准确的DRB1、DQB1等位基因的基因频率和连锁不平衡参数。对群体遗传和疾病关联的研究具有重要的意义。 相似文献
9.
中国南方汉族人群HLA—DQB1基因对系统红斑狼疮的易感性研究 总被引:5,自引:0,他引:5
应用PCR-RFLP核苷酸分型方法,探讨了我国南方浙江沪汉族人群HLA-DQB1基因多态性与系统红斑狼疮(SLE)的遗传关联性,对48例SLE患者的血样分析表明,SLE患者具有显著高的DQB1*0601等位基因频率(30.21%,RR=2.8919,Pcarr=0.0112,EF=0.20),DQB1*0601可能是一易感基因,而DQB1*0301(2.08%,RR=0.1108,Pcorr=0, 相似文献
10.
《微循环学杂志》2015,(4):64-67
目的:报道4例与抗磷脂综合征(APS)患者脑脊液有关病毒抗体的阳性结果。方法:检测4例确诊APS患者脑脊液中单纯疱疹1型病毒(HSV-1)和巨细胞病毒(CMV)抗体,结合临床及影像学资料,分析其与APS发病的关系。结果:4例患者脑脊液HSV-1-IgG、CMV-IgG均为阳性,HSV-1-IgM、CMV-IgM均为阴性;例1、例2血清HSV-1-IgG、CMV-IgG阳性,例3、例4阴性;例1、2、3抗心磷脂抗体(aCL)血清水平12RU/ml;例4检出抗β2糖蛋白1(β2GP1)抗体。结论:初步提示HSV-1和CMV感染与APS可能存在相关性。 相似文献
11.
用PCR-SSP方法研究广西壮族HLA-DQA1和B1基因多态性 总被引:3,自引:0,他引:3
目的 检测广西壮族HLADQA1 ,B1 基因的多态性。方法 应用PCRSSP 方法对140 名健康、无血缘关系广西壮族人的HLADQA1 和DQB1 进行基因分型。结果 共检出7 个DQA1 等位基因和16 个DQB1 等位基因。在检出的DQA1 等位基因中,0301 的基因频率最高(35 % ) ,0401 的基因频率最低(1 .1 % ) 。在DQB1 等位基因中,0601(22 .1 % ) ,0301(20 .7 % ) ,0501(13 .9 % ) 最为常见。未检出的等位基因包括HLADQA1 * 0201 ,0302 ,0601 ,DQB1 * 0603 ,0605 和0608 。结论 广西壮族HLADQA1 ,B1 基因的多态性不仅有中华民族的特点,而且也有其独特性。 相似文献
12.
HLA DQA1, HLA DQB1 genes confer susceptibility to insulin-dependent (type 1) diabetes mellitus (IDDM). Since variants of their upstream regulatory regions are linked to the exons, we investigated their promoter polymorphisms (QAP and QBP) by a combination of PCR-based typing protocols in 136 IDDM patients, 167 controls and 6 families with an IDDM proband to identify possible additional susceptibility markers. Of major interest for IDDM susceptibility are the promoter "splits" of HLA DQA1*0301 (QAP3.1 and QAP3.2) and HLA DQB1*0302 (QBP3.2 and QBP3.3). QAP 3.1 (96% in patients vs 98% in controls) and QBP3.2 (100% vs 99%) were found to be the most frequent promoter variants for HLA DQA1*0301 and DQB1*0302, respectively, whereas QAP3.2 and QBP3.3 were very rare. Furthermore the promoter "splits" were equally distributed on the respective exon alleles in all groups and cosegregated in families as expected. In conclusion, HLA DQ-mediated susceptibility and protection in IDDM is not restricted to the exon but extends to the promoter region without further defining the genetic risk. 相似文献
13.
F. Muntoni M. Congia F. Cucca P. Cossu S. Porcu F. Frau M. Arnone M. Songini S. Muntoni A. Gao M. Pirastu 《Tissue antigens》1992,39(5):262-265
In the Sardinian population a very high incidence of insulin-dependent diabetes mellitus (IDDM) and the lack of HLA-DR2 protective effect due to the high frequency of the A2, Cw7, B17, 3F31, DR2, DQw1 extended haplotype has been reported. This haplotype, carrying a Serine at position 57 of the DQB1*0502 allele, has been previously reported to be underrepresented in patients when compared to controls. In order to provide an explanation for this finding, we defined by RFLP analysis the HLA haplotype of 45 Sardinian IDDM patients and 49 controls. All DR-2DQw1 subjects were molecularly characterized at the HLA DQA and DQB loci. All DR2-positive patients and the vast majority of the DR2-positive controls had the DQB1*0502 allele at the DR2-linked DQB1 locus, with no statistically significant difference between the two groups. All DQA1 genes were the ones expected, with only two exceptions. Nine out of 10 of the DR2-positive patients were compound heterozygotes for DQB1*0201/DQB1*0502 alleles; only this allele combination was significantly increased (p less than 0.0003). Our data suggests that a) the DQB1*0502 allele is neutral for IDDM development and b) the susceptibility to IDDM in our DR2-positive patients is related to the compound heterozygous state between the neutral DQA1*0102/DQB1*0502 and the susceptibility DQA1*0501/DQB1*0201 alleles. 相似文献
14.
S. Djoulah A. Sanchez-Mazas I. Khalil S. Benhamamouch L. Degos I. Deschamps J. Hors 《Tissue antigens》1994,43(2):102-109
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. 相似文献
15.
Klitz W Maiers M Spellman S Baxter-Lowe LA Schmeckpeper B Williams TM Fernandez-Viña M 《Tissue antigens》2003,62(4):296-307
A collaborative study involving a large sample of European Americans was typed for the histocompatibility loci of the HLA DR-DQ region and subjected to intensive typing validation measures in order to accurately determine haplotype composition and frequency. The resulting tables have immediate application to HLA typing and allogeneic transplantation. The loci within the DR-DQ region are especially valuable for such an undertaking because of their tight linkage and high linkage disequilibrium. The 3798 haplotypes, derived from 1899 unrelated individuals, had a total of 75 distinct DRB1-DQA1-DQB1 haplotypes. The frequency distribution of the haplotypes was right skewed with haplotypes occurring at a frequency of less than 1% numbering 59 and yet constituting less than 12% of the total sample. Given DRB1 typing, it was possible to infer the exact DQA1 and DQB1 composition of a haplotype with high confidence (>90% likelihood) in 21 of the 35 high-resolution DRB1 alleles present in the sample. Of the DRB1 alleles without high reliability for DQ haplotype inference, only *0401, *0701 and *1302 were common, the remaining 11 DRB1 alleles constituting less than 5% of the total sample. This approach failed for the 13 serologically equivalent DR alleles in which only 33% of DQ haplotypes could be reliably inferred. The 36 DQA1-DQB1 haplotypes present in the total sample conformed to the known pattern of permissible heterodimers. Four DQA1-DQB1 haplotypes, all rare, are reported here for the first time. The haplotype frequency tables are suitable as a reference standard for HLA typing of the DR and DQ loci in European Americans. 相似文献
16.
M. Jungerman A. Sanchez-Mazas P. Fichna R. lvanova D. Charron J. Hors S. Djoulah 《Tissue antigens》1997,49(6):624-628
HLA DRB1, DQA1 and DQB1 alleles were determined by DNA PCR-SSO typing in a sample of 99 individuals originating from Wielkopolska (midwestern Poland). A high number of alleles (38 DRB1, 8 DQA1 and 14 DQB1) was detected at each locus, many of them presenting notable frequencies in this population. The three HLA loci are thus characterized by very high heterozygosity levels (93% for DRB1, 85% for DQA1, and 88% for DQB1), which confirms the results found for other European populations. A total of 6 DRB1-DQA1-DQB1 haplotypes are detected with an estimated frequency higher than 5%, namely, DRB1*1501-DQA1*0102-DQB1*0602, DRB1*0701-DQA1*0201-DQB1*0201, DRB1*0101-DQA1*0101-DQB1*0501, DRB1*1101-DQA1*0501-DQB1*0301, DRB1*03011-DQA1*0501-DQB1*0201, and DRB1*1301-DQA1*0103-DQB1*0603. A genetic distance analysis between the Polish and other world populations tested for HLA class II indicates that the Wielkopolska community is close to geographically close, rather than linguistically related populations from Europe. More generally, a good agreement between genetics and geography is found for DRB1 and DQB1 polymorphisms in Europe, suggesting that these two loci are highly informative for assessing historical relationships among humans. 相似文献
17.
Shams S Amirzargar AA Yousefi M Rezaei N Solgi G Khosravi F Ansaripour B Moradi B Nikbin B 《Journal of clinical immunology》2009,29(2):175-179
Introduction Pemphigus vulgaris (PV), an autoimmune disease affecting the skin and mucous membranes, is associated with some human leukocyte
antigen (HLA) class II alleles and haplotypes.
Materials and Methods In order to evaluate the association of HLA-DR and DQ alleles and haplotypes in Iranian non-Jewish patients with PV, 52 patients
with PV and 180 normal subjects as control group were investigated in this study.
Results and Discussion HLA-DRB1*04, -DRB1*1401, -DRB4, -DQA1*0104, -DQA1*03011, -DQB1*0302, and -DQB1*0502 alleles have been significantly increased
in our patients group. Moreover, the haplotypes HLA-DRB1*04/-DQA1*03011/-DQB1*0302 and HLA-DRB1*1401/-DQA1*0104/-DQB1*0502
increased significantly in our patients. In contrast, the following alleles decreased significantly in our patients: HLA-DRB1*15,
-DRB1*0301, -DRB1*07, -DRB1*11, -DRB5, -DQA1*0101, -DQA1*0103, -DQA1*201, -DQA1*05, -DQB1*0201, -DQB1*0301, -DQB1*06011, and
-DQB1*0602. In addition, HLA-DRB1*15/-DQA1*0103/-DQB1*06011, HLA-DRB1*0301/-DQA1*05011/-DQB1*0201, HLA-DRB1*07/-DQA1*0201/-DQB1*0201,
and HLA-DRB1*11/-DQA1*05/-DQB1*03011 decreased significantly in our patients. Genetic factors are involved in the occurrence
of PV; HLA-DRB1*04 and -DRB1*1401 alleles and the related haplotypes are suggestive to be two major PV susceptibility factors
in our population study. 相似文献
18.
R. Ivanova E. Naoumova V. Lepage S. Djoulah Y. Yordanov M. N. Loste D. Charron 《Tissue antigens》1996,47(2):122-126
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. 相似文献
19.
Differential expression of HLA‐DQA1 and HLA‐DQB1 gene alleles was analysed in three different cell populations isolated from peripheral blood—B lymphocytes, monocytes and whole‐blood cells. Interallelic differences in mRNA levels were observed: DQA1*03 alleles were among the most expressed in all cell types, whereas DQA1*05 alleles were least expressed in whole blood and monocytes and among the most expressed in B cells. For DQB1 gene, DQB1*06 group of alleles were the most expressed, and DQB1*02 group the least expressed within all cell populations examined. In comparison with the rest alleles, DQB1*06 and DQB1*05:02 alleles have higher expression in monocytes than in B cells, professional antigen‐presenting cells. Cell type‐specific regulation of expression was observed as well, with higher and more balanced expression of alleles in B lymphocytes compared to monocytes. 相似文献