title: CD1a and CD1e allele frequencies in an Italian population from the Abruzzo region.
abstract: CD1 is a small family comprising 5 MHC-like genes located on chromosome 1 and encoding glycoproteins termed CD1a, CD1b, CD1c, CD1d and CD1e. They are expressed mainly on the surface of dendritic cells, monocytes and some thymocytes and are specialized in presenting lipid antigens to T lymphocytes. The structure is similar to that of MHC class I molecules with 3 globular domains and the Beta2-microglobulin. It has been shown that all five human CD1 genes exhibit a limited number of polymorphisms in the alpha1 domain whose effects are still unknown. CD1e results to be the most polymorphic isoform with six CD1e alleles (01, 02 in exon 2 and 03, 04, 05, 06 in ex3) described to date. At this moment, few investigations on the allele frequencies of the CD1 genes have been reported and all additional information improves our knowledge on this new class of antigen-presenting molecules. In order to study possible allelic variations of exon 2 of human CD1a and CD1e genes, we analyzed, by a sensitive technique, the sequence-based typing (SBT), 114 DNA samples from unrelated healthy Italian individuals from the Abruzzo region. Our experimental findings indicate that the allele frequency distribution of both CD1a and CD1e genes is in accordance with that observed in other geographic areas and did not identify any new allele, thus confirming a very low polymorphism.
authors.forename: A
authors.initials: A
authors.lastname: Aureli
authors.forename: G
authors.initials: G
authors.lastname: Fontecchio
authors.forename: E
authors.initials: E
authors.lastname: Altobelli
authors.forename: R
authors.initials: R
authors.lastname: Azzarone
authors.forename: T
authors.initials: T
authors.lastname: Del Beato
authors.forename: M A
authors.initials: MA
authors.lastname: Fioroni
authors.forename: C M
authors.initials: CM
authors.lastname: Caporale
authors.forename: D
authors.initials: D
authors.lastname: Adorno
authors.forename: F
authors.initials: F
authors.lastname: Papola
mesh_terms: D000328:Adult; D018949:Antigens, CD1 / Q000235:genetics*; D005260:Female; D005787:Gene Frequency; D006801:Humans; D007558:Italy; D008297:Male; D020033:Protein Isoforms / Q000235:genetics
chemical_list: D018949:Antigens, CD1; C419393:CD1a antigen; C417738:CD1e antigen; D020033:Protein Isoforms