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A multigene deletion in the immunoglobulin heavy chain region in a highly atopic individual

✍ Scribed by Michael A. Walter; Cynthia A. Chambers; Barry Zimmerman; Diane W. Cox

Publisher
Springer
Year
1990
Tongue
English
Weight
764 KB
Volume
85
Category
Article
ISSN
0340-6717

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✦ Synopsis

Highly atopic individuals, with marked allergy, have extremely elevated total plasma IgE levels. To determine if atopy could be associated with structural alterations involving the IGHE gene of the immunoglobulin heavy chain constant region, the genomic DNA from five atopic individuals was examined. We describe here the identification of a deletion of approximately 120kb, including the IGHA1, IGHGP, IGHG2, AGHG4, and IGHE genes of the IGH constant region, in one atopic patient. This deletion arose de novo from a maternally derived chromosome. The deletion, although apparently not the primary cause of the atopic phenotype of this patient, could be indirectly responsible for the phenotype by exposing aberrant immunoglobulin-regulating elements within the paternally derived IGH constant region.

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