Rodríguez Libia M, Giraldo Mabel C, García Natalia, Velásquez Laura, París Sara C, Alvarez Cristiam M, García Luis F
Grupo de Inmunología Celular e Inmunogenética, Facultad de Medicina, Universidad de Antioquia, Medellín, Colombia.
Biomedica. 2007 Dec;27(4):537-47.
Genetic characterization of the human leucocyte antigen (HLA) system has provided insights into mechanisms of susceptibility to diverse diseases and immunological phenomena during pregnancy, as well as providing evidence for compatibility in the selection of organ transplant donors and recipients.
The HLA-A,-B,-DRB1 allele, genotype and haplotype frequencies were determined in deceased organ donors in Medellín, Colombia.
The genotypes of 926 deceased donors were evaluated over a 17-year period (1989- 2006). HLA-A, HLA-B and HLA-DRB1 typing was performed by sequence specific primer-polymerase chain reaction (SSP-PCR). Maximum likelihood frequencies were estimated by the zipper version of expectation maximation algorithm. Hardy-Weinberg equilibrium were determined by an exact test analogous to Fishers test by using Markovs chain, and linkage disequilibrium between pairs of loci.
Twenty-two, 43 and 14 alleles were identified for HLA-A, -B and -DRB loci, respectively. The most frequent were A02, A24, B35, and DRB104. A deficiency in the proportion of heterozygotes in HLA-A and B loci (p<0.01 and p<0.00001, respectively). The most frequent haplotypes were as follows: HLA-A24, B35 (7.7%) for HLA-A,-B; HLA-B35, DRB104 (6.4%) for HLA-B,-DRB1 and HLA-A24, DRB104 (8.9%) for HLA-A,-DRB1. For the 3 loci HLA-A,-B,-DRB1, the most frequent haplotypes were A24, B35, DRB104 (4.6%) and A24, B61, DRB104 (2.0%).
These results confirm the three-ethnic ancestry of the Medellin population. The predominance of Caucasian admixture differs from many other Latin-American populations and can serve as a reference for comparative studies of these populations as well as applications within the Medellin population.
人类白细胞抗原（HLA）系统的基因特征已为了解孕期多种疾病易感性机制和免疫现象提供了深入认识，同时也为器官移植供体和受体选择中的相容性提供了证据。
确定哥伦比亚麦德林已故器官捐献者的HLA - A、- B、- DRB1等位基因、基因型和单倍型频率。
在17年期间（1989 - 2006年）对926名已故捐献者的基因型进行了评估。通过序列特异性引物 - 聚合酶链反应（SSP - PCR）进行HLA - A、HLA - B和HLA - DRB1分型。通过期望最大化算法的拉链版本估计最大似然频率。通过使用马尔可夫链类似于费舍尔检验的精确检验来确定哈迪 - 温伯格平衡以及位点对之间的连锁不平衡。
分别在HLA - A、- B和 - DRB位点鉴定出22个、43个和14个等位基因。最常见的是A02、A24、B35和DRB104。HLA - A和B位点杂合子比例不足（分别为p < 0.01和p < 0.00001）。最常见的单倍型如下：HLA - A、- B的HLA - A24、B35（7.7%）；HLA - B、- DRB1的HLA - B35、DRB104（6.4%）以及HLA - A、- DRB1的HLA - A24、DRB104（8.9%）。对于HLA - A、- B、- DRB1这3个位点，最常见的单倍型是A24、B35、DRB104（4.6%）和A24、B61、DRB104（2.0%）。
这些结果证实了麦德林人群的三个种族血统。高加索人混合血统的优势与许多其他拉丁美洲人群不同，可作为这些人群比较研究以及麦德林人群内部应用的参考。
