Genetic analysis of new restriction fragment length polymorphisms (rflp) in the human igh constant gene locus

Andrea Bottaro, Roberto Gallina, Mario Demarchi, Angelo O. Carbonara

Research output: Contribution to journalArticlepeer-review

17 Scopus citations


The human immunoglobulin heavy chain constant gene locus (IGHC) is polymorphic at both the protein (Gm and A2m allotypes) and the DNA level [RFLP for the gamma genes (IGHG), the switch μ region (IGHSM) and the switch α regions (IGHSA)]. The polymorphisms have been a valuable tool for assessment of the IGHC locus organization and a variety of population genetics and immunological investigations. In this study three new probes, identifying regions related to the IGHG (IGHPG and IGHSG) or IGHA (IGHAT) genes, have been employed to describe 11 different loci, 6 of which were polymorphic. Most of the polymorphisms are probably due to short insertions/deletions, particularly the SG regions, due to their repetitive structure. Ten loci were assigned to the IGHC region on the basis of known restriction maps, deletion mapping and association with mapped RFLP; the 11th, despite a striking sequence similarity with the IGHPG regions, could not be assigned to any known IGHC subregion. Analysis of these and previously known IGHG RFLP in a sample of 65 unrelated subjects plus 15 families allowed us to draw a genetic map, with particularly high resolution in the GP‐G2‐G4 genes region, revealing a marked discontinuity in the linkage disequilibrium values between pairs of adjacent loci.

Original languageEnglish (US)
Pages (from-to)2151-2157
Number of pages7
JournalEuropean Journal of Immunology
Issue number11
StatePublished - Jan 1 1989
Externally publishedYes

All Science Journal Classification (ASJC) codes

  • Immunology and Allergy
  • Immunology


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