Moraru M, Cañizares M, Muntasell A, de Pablo R, López-Botet M, Vilches C
Laboratorio de Inmunogenética-HLA, Servicio de Inmunología, Hospital Universitario Puerta de Hierro, Majadahonda, Madrid, Spain.
Tissue Antigens. 2012 Aug;80(2):184-7. doi: 10.1111/j.1399-0039.2012.01911.x. Epub 2012 Jun 18.
Natural killer (NK) and T-lymphocytes monitor human leukocyte antigen (HLA)-E expression through CD94:NKG2 heterodimers. Structural polymorphism is not a hallmark for NK-complex genes on chromosome 12, except for complete NKG2C deletion in some humans. We present a method for fast, simple and accurate assessment of NKG2C copy-number variation - presence or absence in the genome of an NKG2C gene, in homo- or heterozygosis, is detected by a single conventional polymerase chain reaction that yields amplicons of different lengths in each genotype. We have also determined the NKG2C genotypes of a reference cell panel comprising 13 NK- and tumour-cell lines and 39 Epstein-Barr virus transformed cells from the International Histocompatibility Workshop. Our results should facilitate research on the importance of NKG2C and its deletion for immunity.
自然杀伤（NK）细胞和T淋巴细胞通过CD94:NKG2异二聚体监测人类白细胞抗原（HLA）-E的表达。结构多态性并非12号染色体上NK复合体基因的特征，只有部分人存在NKG2C基因完全缺失的情况。我们提出了一种快速、简便且准确评估NKG2C拷贝数变异的方法——通过单一常规聚合酶链反应检测基因组中NKG2C基因的存在与否，以及其处于纯合子或杂合子状态，该反应在每种基因型中产生不同长度的扩增子。我们还确定了一个参考细胞面板的NKG2C基因型，该面板包含来自国际组织相容性研讨会的13种NK细胞系和肿瘤细胞系以及39种爱泼斯坦-巴尔病毒转化细胞。我们的结果应有助于研究NKG2C及其缺失对免疫的重要性。
