Molecular analysis of HLA-DRB1, DQA1, DQB1, DQ promoter polymorphism and extended class I/class II haplotypes in the Seri Indians from Northwest Mexico
Molecular analysis of HLA-DRB1, DQA1, DQB1, DQ promoter polymorphism and extended class I/class II haplotypes in the Seri Indians from Northwest Mexico
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DOI：
10.1034/j.1399-0039.2002.590505.x
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发表时间：
2002-05-01
期刊：
影响因子：
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通讯作者：
Gorodezky, C
中科院分区：
文献类型：
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作者：
Alaez, C;Infante, E;Gorodezky, C
研究美洲印第安人主要组织相容性复合体（MHC）的遗传学对于了解这些土著群体的起源和迁移以及免疫遗传学对影响这些人群的疾病流行病学的影响具有重要价值。我们分析了，使用聚合酶链反应和序列特异性寡核苷酸探针（PCR-SSOP），DRB 1，DQA 1，DQB 1等位基因和DQA 1和DQB 1基因的启动子区，在31个无关和24个相关的塞里，墨西哥印第安人组，从国家的索诺拉（墨西哥西北部）。该群体的II类基因型处于遗传平衡状态。DRB 1等位基因频率为DRB 1 0 4 0 7（4 8.4%）、DRB 1 0 80 2（33.9%）和DRB 1 14 0 2（16.1%）。DQA 1和DQB 1等位基因频率最高的是DQA 1 *03011（AF = 50.00%），DQA 1 *0401（AF = 33.87%）和DQA 1 *0501 DQB 1 *0302（AF = 50.00%）、DQB 1 *0402（33.87%）和DQB 1 *0301（16.13%），分别与DRB 1 *0407、DRB 1 *0802和DRB 1 *1402联合应用。三个QAP和三个QBP等位基因（QAP 3.1，4.1，4.2; QBP 3.1，3.21，4.1）与典型的DQA 1和DQB 1等位基因。在家系成员中存在4种Ⅱ类单倍型：DRB 1 *0407-QAP-3.1-DQA 1 *03011-QBP-3.21-DQB 1 *0302，DRB 1 *0802-QAP-4.2-DQA 1 *0401-QBP-4.1-DQB 1 * 0402，DRB 1 *0802-QAP-4.2-DQA 1 * 0403-DQB 1 * 0404-DQB 1 *0402。DRB 1 *1402-QAP-4.1-DQA 1 *0501-QBP-3.1-DQB 1 *0301和DRB 1 *0701-QAP-2.1-DQA 1 *0201-QBP-2.1-DQB 1 *0201。家系资料用于确定扩展单倍型。当考虑A* 和B* 位点时，共发现21种单倍型。三种最常见的组合包括A*0201-B*3501-DRB 1 *0407、A*3101-B*5101-DRB 1 *0802和A*0201-B*40-DRB 1 *1402。
The study of the genetics of the Major Histocompatibility Complex (MHC) in Amerindians is of great value in understanding the origins and migrations of these native groups, as well as the impact of immunogenetics on the epidemiology of diseases affecting these populations. We analyzed, using Polymerase Chain Reaction and Sequence Specific Oligonucleotide Probes (PCR-SSOP), DRB1, DQA1, DQB1 alleles and the promoter regions of DQA1 and DQB1 genes in 31 unrelated and 24 related Seri, a Mexican Indian group, from the state of Sonora (Northwest Mexico). The class II genotypes of this population were found to be in genetic equilibrium. The allele frequency (AF) of the prevalent DRB1 alleles were DRB1*0407 (48.4%), DRB1*0802 (33.9%) and DRB1*1402 (16.1%). The most frequent DQA1 and DQB1 alleles were DQA1*03011 (AF = 50.00%), DQA1*0401 (AF = 33.87%) and DQA1*0501 (AF = 16.13%); DQB1*0302 (AF = 50.00%), DQB1*0402 (33.87%) and DQB1*0301 (16.13%); which were in combination with DRB1*0407, DRB1*0802 and DRB1*1402, respectively. Three QAP and three QBP alleles were present (QAP 3.1, 4.1, 4.2; QBP 3.1, 3.21, 4.1) associated with the typical published DQA1 and DQB1 alleles. Four class II haplotypes were present in family members: DRB1*0407-QAP-3.1-DQA1*03011-QBP-3.21-DQB1*0302; DRB1*0802-QAP-4.2-DQA1*0401-QBP-4.1-DQB1*0402; DRB1*1402-QAP-4.1-DQA1*0501-QBP-3.1-DQB1*0301 and DRB1*0701-QAP-2.1-DQA1*0201-QBP-2.1-DQB1*0201. The family data were used to confirm extended haplotypes. A total of 21 haplotypes were found when A* and B* loci were also considered. The three most frequent combinations included A*0201-B*3501-DRB1*0407, A*3101-B*5101-DRB1*0802, and A*0201-B*40-DRB1*1402.