Cerná M
Národní HLA centrum, Imunologické pracovistĕ IKEM, Praha.
Cas Lek Cesk. 1995 Mar 22;134(6):182-6.
The major histocompatibility complex (MHC) gene products are known to play a fundamental role in foreign antigen presentation to the cellular immune system. The human major histocompatibility complex (HLA) spans about 4 million base pairs (4 Mbp) of DNA at chromosome position 6p21.3 and is one of the most intensively studied regions of the human genome, containing over 70 known genes. The HLA can be divided up into three regions: the class I sequences at the telomeric end of the complex; the class II loci at the centromeric end; and, between these, the class III genes including those for the complement components. The analysis of HLA has focused primarily on their structure and function. However, the quantitative differences in gene expression are also important, since quantitative variations of cell surface HLA influences immunoregulation and the expression of immunologically mediated diseases. Recently, biochemical and genetic studies have revealed the existence of tissue-specific cis-acting regulatory gene elements and trans-acting protein factors, capable of binding to the cis-acting regions, that govern HLA gene expression.
主要组织相容性复合体（MHC）基因产物在向细胞免疫系统呈递外来抗原方面发挥着重要作用。人类主要组织相容性复合体（HLA）位于6号染色体6p21.3位置，跨越约400万个碱基对（4 Mbp）的DNA，是人类基因组中研究最深入的区域之一，包含70多个已知基因。HLA可分为三个区域：复合体端粒末端的I类序列；着丝粒末端的II类基因座；以及位于两者之间的III类基因，包括补体成分的基因。对HLA的分析主要集中在其结构和功能上。然而，基因表达的定量差异也很重要，因为细胞表面HLA的定量变化会影响免疫调节以及免疫介导疾病的表达。最近，生化和遗传学研究揭示了组织特异性顺式作用调节基因元件和反式作用蛋白因子的存在，这些因子能够与顺式作用区域结合，从而调控HLA基因表达。
