title: Variability of the immunoglobulin heavy chain constant region locus: a population study.
abstract: The Immunoglobulin Heavy chain Constant region (IGHC) locus is a multigene family composed of highly homologous segments often involved in unequal crossings over that lead to deleted and duplicated haplotypes. The frequencies of these haplotypes in 558 individuals from Lombardy, Veneto, Puglia and Sardinia were determined by Pulsed Field Gel Electrophoresis (PFGE), followed by Southern blotting with four IGHC probes, and compared with those observed in 110 subjects from Piedmont. Twenty deletions and 60 duplications were characterized, all in heterozygous individuals except for 2 homozygous deletions. The differences in frequency between the five populations were not significant. The deletions/duplications involved one or more genes: GP-A2, A1-E and G4 duplications, and A1-E and GP-A2 deletions were the most common. Four new duplications are described: three, involving the genes from GP to A2, from G2 to G4, and G4, are counterparts of known deletions. The fourth duplication spans from GP to G2. A G1 deleted heterozygous individual never previously described in Italy is reported. All the rearranged haplotypes seem to be the result of unequal crossing over. The difference between the number of duplications and deletions was significant in Sardinia, Lombardy, Puglia and in the total of 668 subjects (P < 0.001). This may be due to selection or genetic drift.
authors.affiliation: Dipartimento di Genetica Biologia a Chimica Medica, Università di Torino, Italy.
authors.forename: A
authors.initials: A
authors.lastname: Brusco
authors.forename: U
authors.initials: U
authors.lastname: Cariota
authors.forename: A
authors.initials: A
authors.lastname: Bottaro
authors.forename: C
authors.initials: C
authors.lastname: Boccazzi
authors.forename: A
authors.initials: A
authors.lastname: Plebani
authors.forename: A G
authors.initials: AG
authors.lastname: Ugazio
authors.forename: R
authors.initials: R
authors.lastname: Galanello
authors.forename: M G
authors.initials: MG
authors.lastname: Guerra
authors.forename: A O
authors.initials: AO
authors.lastname: Carbonara
mesh_terms: D015139:Blotting, Southern; D003434:Crossing Over, Genetic; D016521:Electrophoresis, Gel, Pulsed-Field; D005787:Gene Frequency; D015321:Gene Rearrangement; D014644:Genetic Variation; D006239:Haplotypes; D006801:Humans; D007127:Immunoglobulin Constant Regions / Q000235:genetics*; D007143:Immunoglobulin Heavy Chains / Q000235:genetics*; D007558:Italy; D005810:Multigene Family; D012091:Repetitive Sequences, Nucleic Acid; D017384:Sequence Deletion
chemical_list: D007127:Immunoglobulin Constant Regions; D007143:Immunoglobulin Heavy Chains