New types of multiple and single gene deletions in the human IgCH locus

Andrea Bottarol, Mario De Marchi, Gerda De Langea, Cleide Boccazzi, Federica Caldesiz, Roberto Gallinat, Angelo O. Carbonara

Research output: Contribution to journalArticlepeer-review

28 Scopus citations


The locus for human immunoglobulin heavy chain constant region genes (IgCH) is characterized by a significant frequency of deleted or duplicated haplotypes, due to unequal crossing-over events. Four types of deletions and one duplication have been reported so far. We describe here a molecular study of four cases of IgCH deletions. Two of the three types of deletions are reported here for the first time. Analysis of genetic markers associated with the deleted haplotypes pointed to the independent origin of similar deletions and the involvement of intergenic sequences in the mispairing-recombination process. The reduced or absent transcription of the Cγ4 gene in two Cγ2-deleted haplotypes offers an insight into the requirements for the isotype switch mechanism.

Original languageEnglish (US)
Pages (from-to)44-48
Number of pages5
Issue number1
StatePublished - Jan 1989
Externally publishedYes

All Science Journal Classification (ASJC) codes

  • Immunology
  • Genetics


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