Alcoceba M, Marín L, Balanzategui A, Sarasquete M E, Chillón M C, Martín-Jiménez P, Puig N, Santamaría C, Corral R, García-Sanz R, San Miguel J F, González M
Laboratorio de Biología Molecular/HLA, Servicio de Hematología, Hospital Universitario de Salamanca, Salamanca, Spain.
Tissue Antigens. 2011 Oct;78(4):249-55. doi: 10.1111/j.1399-0039.2011.01766.x.
The frequencies of human leukocyte antigen (HLA) class I and class II specificities and haplotypic associations were determined in 1940 unrelated donors from Castilla y León and compared with other Iberian, Mediterranean and European populations. Specificities were determined using polymerase chain reaction reverse sequence-specific oligonucleotide or polymerase chain reaction sequence-specific primer techniques. In the analysis, 19, 29 and 13 specificities were found for HLA-A, -B and -DRB1, respectively, with HLA-A02 (26%), -A01 (11%), -B44 (16%), -B35 (10%), -DRB107 (16%) and -DRB113 (14%) showing the highest frequencies. In addition, 10 common HLA-A-B-DRB1 haplotypic associations were observed, A01-B08-DRB103 (3%) and A29-B44-DRB107 (3%) being the most frequent ones. These findings indicate that the population of Castilla y León is genetically equidistant from the Portuguese and other Spanish populations and shares a common origin with other Iberian populations, in which European, Mediterranean and North African genetic components are present; this is in agreement with the historical and genetic background of the population. These data contribute to a better understanding of the genetic structure of the Iberian Peninsula and provide a healthy control population from our region that should be useful for the study of disease associations.
在来自卡斯蒂利亚-莱昂的1940名无关供体中确定了人类白细胞抗原(HLA)I类和II类特异性及单倍型关联,并与其他伊比利亚、地中海和欧洲人群进行了比较。使用聚合酶链反应反向序列特异性寡核苷酸或聚合酶链反应序列特异性引物技术确定特异性。分析发现,HLA-A、-B和-DRB1分别有19种、29种和13种特异性,其中HLA-A02(26%)、-A01(11%)、-B44(16%)、-B35(10%)、-DRB107(16%)和-DRB113(14%)频率最高。此外,观察到10种常见的HLA-A-B-DRB1单倍型关联,其中A01-B08-DRB103(3%)和A29-B44-DRB107(3%)最为常见。这些发现表明,卡斯蒂利亚-莱昂人群在基因上与葡萄牙人和其他西班牙人群距离相等,与其他伊比利亚人群有共同起源,这些人群中存在欧洲、地中海和北非的基因成分;这与该人群的历史和基因背景一致。这些数据有助于更好地理解伊比利亚半岛的基因结构,并提供了我们地区的一个健康对照人群,这对疾病关联研究应该是有用的。