Jongeneel C V, Briant L, Udalova I A, Sevin A, Nedospasov S A, Cambon-Thomsen A
Ludwig Institute for Cancer Research, Lausanne Branch, Epalinges, Switzerland.
Proc Natl Acad Sci U S A. 1991 Nov 1;88(21):9717-21. doi: 10.1073/pnas.88.21.9717.
We have identified three polymorphic microsatellites (which we call TNFa, TNFb, and TNFc) within a 12-kilobase region of the human major histocompatibility complex (MHC) that includes the tumor necrosis factor (TNF) locus. TNFc is located within the first intron of the TNF-beta gene and has only 2 alleles. TNFa and TNFb are 3.5 kilobases upstream (telomeric) of the TNF-beta gene and have at least 13 and 7 alleles, respectively. TNFa, -b, and -c alleles are in linkage disequilibrium with alleles at other loci within the MHC, including class I, class II, and class III. TNFa, -b, and -c alleles are also associated with extended HLA haplotypes. These TNF polymorphisms will allow a thorough genetic analysis of the involvement of TNF in MHC-linked pathologies.
我们在人类主要组织相容性复合体（MHC）的一个12千碱基区域内鉴定出三个多态性微卫星（我们称之为TNFa、TNFb和TNFc），该区域包括肿瘤坏死因子（TNF）基因座。TNFc位于TNF-β基因的第一个内含子内，只有2个等位基因。TNFa和TNFb位于TNF-β基因上游3.5千碱基处（端粒方向），分别至少有13个和7个等位基因。TNFa、-b和-c等位基因与MHC内其他基因座的等位基因存在连锁不平衡，包括I类、II类和III类。TNFa、-b和-c等位基因也与扩展的HLA单倍型相关。这些TNF多态性将有助于对TNF在MHC相关病理中的作用进行全面的基因分析。
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