caa a22 4500 467984727 CHVBK 20180323112528.0 cr unu---uuuuu 170328e19901001xx s 000 0 eng 10.1007/BF00193590 doi (NATIONALLICENCE)springer-10.1007/BF00193590 A multigene deletion in the immunoglobulin heavy chain region in a highly atopic individual [Elektronische Daten] [Michael Walter, Cynthia Chambers, Barry Zimmerman, Diane Cox] Summary: 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. Springer-Verlag, 1990 Walter Michael Research Institute, The Hospital for Sick Children, M5G 1X8, Toronto, Ontario, Canada aut Chambers Cynthia Research Institute, The Hospital for Sick Children, M5G 1X8, Toronto, Ontario, Canada aut Zimmerman Barry Research Institute, The Hospital for Sick Children, M5G 1X8, Toronto, Ontario, Canada aut Cox Diane Research Institute, The Hospital for Sick Children, M5G 1X8, Toronto, Ontario, Canada aut Human Genetics Springer-Verlag 85/6(1990-10-01), 643-647 0340-6717 85:6<643 1990 85 439 https://doi.org/10.1007/BF00193590 text/html Onlinezugriff via DOI 1 research-article jats NATIONALLICENCE 856 40 https://doi.org/10.1007/BF00193590 text/html Onlinezugriff via DOI NATIONALLICENCE 700 1- Walter Michael Research Institute, The Hospital for Sick Children, M5G 1X8, Toronto, Ontario, Canada aut NATIONALLICENCE 700 1- Chambers Cynthia Research Institute, The Hospital for Sick Children, M5G 1X8, Toronto, Ontario, Canada aut NATIONALLICENCE 700 1- Zimmerman Barry Research Institute, The Hospital for Sick Children, M5G 1X8, Toronto, Ontario, Canada aut NATIONALLICENCE 700 1- Cox Diane Research Institute, The Hospital for Sick Children, M5G 1X8, Toronto, Ontario, Canada aut NATIONALLICENCE 773 0- Human Genetics Springer-Verlag 85/6(1990-10-01), 643-647 0340-6717 85:6<643 1990 85 439 Metadata rights reserved Springer special CC-BY-NC licence nationallicence BK010053 XK010053 XK010000 NATIONALLICENCE NATIONALLICENCE NL-springer