EXTENSIVE GENETIC-POLYMORPHISM IN THE HUMAN TUMOR-NECROSIS-FACTOR REGION AND RELATION TO EXTENDED HLA HAPLOTYPES
EXTENSIVE GENETIC-POLYMORPHISM IN THE HUMAN TUMOR-NECROSIS-FACTOR REGION AND RELATION TO EXTENDED HLA HAPLOTYPES
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DOI：
10.1073/pnas.88.21.9717
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发表时间：
1991-11-01
影响因子：
11.1
通讯作者：
CAMBONTHOMSEN, A
中科院分区：
文献类型：
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作者：
JONGENEEL, CV;BRIANT, L;CAMBONTHOMSEN, A
我们已经确定了三个多态性微卫星（我们称之为TNF α，TNF b，和TNFc）内的12-组氨酸酶区域的人主要组织相容性复合体（MHC），其中包括肿瘤坏死因子（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是TNF-β基因上游（端粒）的3.5个酶，分别具有至少13个和7个等位基因。TNF α、-B和-c等位基因与MHC内其他基因座的等位基因（包括I类、II类和III类）处于连锁不平衡。TNF α、-B和-c等位基因也与扩展的HLA单倍型相关。这些TNF多态性将允许对TNF参与MHC相关病理进行彻底的遗传分析。
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.