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首页> 外文期刊>Revista Brasileira de Hematologia e Hemoterapia >Human leukocyte antigen allele linkage disequilibrium and haplotype structure in volunteer bone marrow donors of Paran?? State
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Human leukocyte antigen allele linkage disequilibrium and haplotype structure in volunteer bone marrow donors of Paran?? State

机译:人白细胞抗原等位基因连锁不平衡和单倍型结构在Paran?州

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摘要

Background Bone marrow transplantation has been used in the treatment of various diseases, especially hematologic diseases. The success of this treatment, among other factors, requires human leukocyte antigens (HLA) compatibility between patient and donor. Knowing the human leukocyte antigens allele group and haplotype frequencies as well as the linkage disequilibrium between alleles of different human leukocyte antigens loci can shorten the search time for a compatible bone marrow donor. Objective To assemble and analyze data on human leukocyte antigens frequencies available in the Laboratory of Immunogenetics and Histocompatibility (LIGH) database of the Universidade Federal do Paran?? adding an estimation of the Hardy-Weinberg equilibrium and linkage disequilibrium. Methods The sample was composed of seven populations grouped by self-declared ancestry or inferred from the surname as follows: Laboratory of Immunogenetics and Histocompatibility database (all groups), descendants of Italians, Poles, and Asians, Afro-Brazilians, Mulattos (mixed ancestry) and Amerindians. Human leukocyte antigens genotyping was carried out using the polymerase chain reaction-sequence specific primers (PCR-SSP) and -sequence specific oligonucleotide (PCR-SSO) technologies. Results There were high frequencies of the HLA-A*02 , HLA-B*35 and HLA-DRB1*13 allelic groups in all groups. The same was observed for the HLA-A*01-B*08-DRB1*03 haplotype except for Asian descendants. It was observed that the human leukocyte antigens Laboratory of Immunogenetics and Histocompatibility database and the Asian group are not in Hardy-Weinberg equilibrium. The Italian, Polish, Asian, Mulatto and Amerindian descendants showed haplotypes in complete linkage disequilibrium. Our results were compared with data on the human leukocyte antigens in the Paran?? population available from the Brazilian Voluntary Bone Marrow Donor Registry (REDOME) and data published on the population of Curitiba and the northern region of Paran??. Conclusions Haplotypes frequent in the Asian group were not the most frequently observed in the Laboratory of Immunogenetics and Histocompatibility database and the National Bone Marrow Donor Registry for the state of Paran??. Linkage disequilibrium information may prove useful in the search for bone marrow donors for patients awaiting a suitable donor.
机译:背景技术骨髓移植已用于治疗多种疾病,尤其是血液系统疾病。除其他因素外,这种治疗方法的成功还需要患者和供体之间的人类白细胞抗原(HLA)相容性。知道人类白细胞抗原等位基因组和单倍型频率以及不同人类白细胞抗原基因座的等位基因之间的连锁不平衡,可以缩短寻找适合的骨髓供体的时间。目的收集和分析在巴拉那联邦大学的免疫遗传学和组织相容性实验室(LIGH)数据库中可获得的人类白细胞抗原频率数据。增加了对Hardy-Weinberg平衡和连锁不平衡的估计。方法样本由7个人群组成,这些人群按自称血统分组或根据姓氏推断如下:免疫遗传学和组织相容性实验室(所有组),意大利人,波兰人和亚洲人的后裔,非裔巴西人,穆拉托斯人(混合血统) )和美洲印第安人。使用聚合酶链反应-序列特异性引物(PCR-SSP)和-序列特异性寡核苷酸(PCR-SSO)技术进行人白细胞抗原的基因分型。结果各组HLA-A * 02,HLA-B * 35和HLA-DRB1 * 13等位基因频率较高。对于HLA-A * 01-B * 08-DRB1 * 03单倍型,除了亚洲后代,也观察到了相同的结果。观察到,人类白细胞抗原免疫遗传学和组织相容性实验室以及亚洲小组未达到Hardy-Weinberg平衡。意大利人,波兰人,亚洲人,混血儿和美洲印第安人的后代在完全连锁不平衡中表现出单倍型。将我们的结果与Paran ??中人类白细胞抗原的数据进行了比较。可从巴西自愿骨髓捐献者登记处(REDOME)获得的人口数以及有关库里提巴和Paran北部地区人口的数据。结论在免疫遗传学和组织相容性数据库以及Paran州的国家骨髓捐献者登记处中,亚洲人群中常见的单倍型并不是最常见的。连锁不平衡信息对于等待合适供体的患者寻找骨髓供体可能是有用的。

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