title: The chromosome region containing the highly polymorphic HLA class I genes displays limited large scale variability in the human population.
abstract: The large-scale organization and polymorphism of the HLA class I region was investigated by pulsed field gel (PFG) fractionation of DNA from various HLA-typed cell lines cleaved by different 'rare cutter' restriction enzymes, followed by hybridization with 'general' and locus-specific HLA probes. Results indicate that (i) most HLA class I sequences are contained in a 340 kb MluI DNA fragment which also carries the HLA-A gene; (ii) HLA-A, -B and -C genes are present on different fragments bounded by 'HTF islands' (CpG-rich, unmethylated DNA regions containing multiple sites for 'rare cutter' enzymes) which generally coincide with the 5' regions of expressed genes; and (iii) very little fragment size polymorphism is seen, implying that expansion/contraction events in the HLA class I region due to unequal crossing over (as documented in the mouse class I system) are infrequently found in the human population.
authors.affiliation: Centre d'Immunologie INSERM-CNRS de Marseille-Luminy, France.
authors.forename: G
authors.initials: G
authors.lastname: Chimini
authors.forename: P
authors.initials: P
authors.lastname: Pontarotti
authors.forename: C
authors.initials: C
authors.lastname: Nguyen
authors.forename: A
authors.initials: A
authors.lastname: Toubert
authors.forename: J
authors.initials: J
authors.lastname: Boretto
authors.forename: B R
authors.initials: BR
authors.lastname: Jordan
mesh_terms: D002874:Chromosome Mapping; D004262:DNA Restriction Enzymes; D005805:Genes, MHC Class I; D014644:Genetic Variation; D006680:HLA Antigens / Q000235:genetics; D015796:HLA-B27 Antigen; D006801:Humans; D011110:Polymorphism, Genetic; D013167:Spondylitis, Ankylosing / Q000235:genetics / Q000276:immunology
chemical_list: D006680:HLA Antigens; D015796:HLA-B27 Antigen; D004262:DNA Restriction Enzymes