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Proceedings of the National Academy of Sciences of the United States of America logoLink to Proceedings of the National Academy of Sciences of the United States of America
. 1991 Nov 1;88(21):9717–9721. doi: 10.1073/pnas.88.21.9717

Extensive genetic polymorphism in the human tumor necrosis factor region and relation to extended HLA haplotypes.

C V Jongeneel 1, L Briant 1, I A Udalova 1, A Sevin 1, S A Nedospasov 1, A Cambon-Thomsen 1
PMCID: PMC52790  PMID: 1946393

Abstract

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.

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Selected References

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