Gene deletions within the human immunoglobulin heavy chain constant region gene cluster

Andrea Bottaro, M. De Marchi, G. G. De Lange, A. O. Carbonara

Research output: Contribution to journalArticlepeer-review

23 Scopus citations

Abstract

Gene deletions due to unequal crossing-over events represent a not uncommon cause of immunoglobulin isotype defiency. A variety of deleted haplotypes has been ascertained in the Italian population by means of screening for different Ig isotypes followed by Southern blot analysis of the deficient probands. The total frequency of gene deletions involving the γ2 and/or γ4 genes amounts to about 1/60; among these, a higher frequency was observed for multigene compared with single gene deletions. Carriers of multiple deficiencies due to gene deletions are able to activate compensation mechanisms, avoiding the usual pathological consequences of the deficiency.

Original languageEnglish (US)
Pages (from-to)55-59
Number of pages5
JournalExperimental and Clinical Immunogenetics
Volume6
Issue number1
StatePublished - Jan 1 1989
Externally publishedYes

All Science Journal Classification (ASJC) codes

  • Immunology
  • Genetics
  • Genetics(clinical)

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