Gil Juana, Ruiz-Tíscar José Luis, Rodríguez-Sainz Carmen, Hernández Ana, Santamaría Beatriz, García-Sánchez Félix, Fernández-Cruz Eduardo
Servicio de Inmunología, Hospital General Universitario Gregorio Marañón, 28007 Madrid, Spain.
Med Clin (Barc). 2005 Jun 4;125(1):10-1. doi: 10.1157/13076408.
A mutation (C77G) in exon 4 of the CD45 gene is the most common cause of CD45 abnormal splicing in European populations, which has been associated with an increased susceptibility to human immunodeficiency virus infection. We aimed to analyze the C77G frequency in the Spanish population.
517 healthy donors. CD45RA and RO expression was determined in circulating T lymphocytes by flow cytometry. CD45 exon 4 sequencing was carried out in individuals with an abnormal coexpression of CD45 isoforms.
6/517 individuals presented CD45RA persistence on memory T cells; all of them were heterozygous for C77G mutation. The resulting allelic frequency was 0,58% (95% confidence interval, 0.23-1.32).
C77G is present in the Spanish population. Further studies to elucidate its clinical significance are needed.
CD45基因第4外显子中的一个突变（C77G）是欧洲人群中CD45异常剪接的最常见原因，这与人类免疫缺陷病毒感染易感性增加有关。我们旨在分析西班牙人群中C77G的频率。
517名健康供者。通过流式细胞术测定循环T淋巴细胞中CD45RA和RO的表达。对CD45异构体共表达异常的个体进行CD45第4外显子测序。
6/517名个体的记忆T细胞上出现CD45RA持续存在；他们均为C77G突变的杂合子。所得等位基因频率为0.58%（95%置信区间，0.23 - 1.32）。
C77G存在于西班牙人群中。需要进一步研究以阐明其临床意义。
