title: Distribution of tumor necrosis factor alleles (NcoI RFLP) and their relationship to HLA haplotypes in an Italian population.
abstract: The NcoI RFLP of the tumor necrosis factor (TNF) beta gene was analyzed in a panel of 105 unrelated healthy Italian blood donors. The gene frequencies of the 10.5 kb and 5.5 kb allele were 0.73 and 0.27, respectively. The 5.5 kb band was significantly positively associated with HLA-A1, B8, DR17.1, and C4AQ0, and negatively associated with DR7.2, DQw9 and C4A6, all being specificities which belong to two well-known Caucasoid ancestral haplotypes. When the population was subdivided on the basis of TNF phenotypes, different linkage disequilibria between HLA alleles were detected in the three phenotypic classes. From this analysis it was possible to relate preferential HLA associations, most of which are characteristic of ancestral haplotypes, to TNF polymorphism.
authors.affiliation: Department of Genetics, Biology and Medical Chemistry, Torino University, Italy.
authors.forename: D
authors.initials: D
authors.lastname: Peruccio
authors.forename: S
authors.initials: S
authors.lastname: D'Alfonso
authors.forename: I
authors.initials: I
authors.lastname: Borelli
authors.forename: A
authors.initials: A
authors.lastname: Amoroso
authors.forename: G
authors.initials: G
authors.lastname: Mazzola
authors.forename: D
authors.initials: D
authors.lastname: Marsico
authors.forename: M
authors.initials: M
authors.lastname: Bersanti
authors.forename: P
authors.initials: P
authors.lastname: Richiardi
mesh_terms: D000483:Alleles; D015139:Blotting, Southern; D015252:Deoxyribonucleases, Type II Site-Specific; D005787:Gene Frequency; D008040:Genetic Linkage; D005838:Genotype; D006680:HLA Antigens / Q000235:genetics*; D006239:Haplotypes; D006801:Humans; D016130:Immunophenotyping; D007558:Italy; D008233:Lymphotoxin-alpha / Q000235:genetics*; D012150:Polymorphism, Restriction Fragment Length
chemical_list: D006680:HLA Antigens; D008233:Lymphotoxin-alpha; C052380:endodeoxyribonuclease NcoI; D015252:Deoxyribonucleases, Type II Site-Specific