caa a22 4500 467986630 CHVBK 20180323112534.0 cr unu---uuuuu 170328e19901201xx s 000 0 eng 10.1007/BF00197704 doi (NATIONALLICENCE)springer-10.1007/BF00197704 Multiple levels of analysis of an IGHG4 gene deletion [Elektronische Daten] [Andrea Bottaro, Umberto Cariota, Gerda deLange, Mario DeMarchi, Roberto Gallina, Salvatore Oliviero, Arjen Vlug, Angelo Carbonara] Summary: Human immunoglobulin heavy chain constant region (IGHC) genes constitute a typical multigene family, usually comprising eleven genes on the telomere of chromosome 14 (14q32). In this region, deleted and duplicated haplotypes have been reported to exist with considerable frequency. Their origin is the result of either unequal crossing-over or looping out excision. In this paper, we report the characterization of a new type of deletion, involving the IGHG4 gene, in a subject who also carries a larger deletion of a previously described type on the second chromosome. Employment of several methods (polymerase chain reaction, standard Southern blot, pulsed field gel electrophoresis, serological techniques) to analyze these deleted haplotypes has resulted in a level of accuracy in their characterization that has not been achieved in previous cases. The site of recombination responsible for the IGHG4 deletion was restricted to a 2.5-kb region 3′ of the G4 gene; this rules out any possible involvement of the S regions in the recombination process. The usefulness of the various techniques in the characterization of the deletions is also discussed, together with possible future applications in the field. Springer-Verlag, 1990 Bottaro Andrea Dipartimento di Genetica, Biologia e Chimica Medica, and Centro CNR Immunogenetica ed Istocompatibilità, Via Santena, 19, I-10126, Turin, Italy aut Cariota Umberto Dipartimento di Genetica, Biologia e Chimica Medica, and Centro CNR Immunogenetica ed Istocompatibilità, Via Santena, 19, I-10126, Turin, Italy aut deLange Gerda Blood Transfusion Service, Central Lab of the Netherlands Red Cross, Plesmanlaan 125, NL-1066 CX, Amsterdam, The Netherlands aut DeMarchi Mario Cattedra di Genetica Medica dell'Università, Policlinico Le Scotte, I-53100, Siena, Italy aut Gallina Roberto Dipartimento di Genetica, Biologia e Chimica Medica, and Centro CNR Immunogenetica ed Istocompatibilità, Via Santena, 19, I-10126, Turin, Italy aut Oliviero Salvatore Department of Biological Chemistry and Molecular Pharmacology, Harvard Medical School, 02115, Boston, MA, USA aut Vlug Arjen Blood Transfusion Service, Central Lab of the Netherlands Red Cross, Plesmanlaan 125, NL-1066 CX, Amsterdam, The Netherlands aut Carbonara Angelo Dipartimento di Genetica, Biologia e Chimica Medica, and Centro CNR Immunogenetica ed Istocompatibilità, Via Santena, 19, I-10126, Turin, Italy aut Human Genetics Springer-Verlag 86/2(1990-12-01), 191-197 0340-6717 86:2<191 1990 86 439 https://doi.org/10.1007/BF00197704 text/html Onlinezugriff via DOI 1 research-article jats NATIONALLICENCE 856 40 https://doi.org/10.1007/BF00197704 text/html Onlinezugriff via DOI NATIONALLICENCE 700 1- Bottaro Andrea Dipartimento di Genetica, Biologia e Chimica Medica, and Centro CNR Immunogenetica ed Istocompatibilità, Via Santena, 19, I-10126, Turin, Italy aut NATIONALLICENCE 700 1- Cariota Umberto Dipartimento di Genetica, Biologia e Chimica Medica, and Centro CNR Immunogenetica ed Istocompatibilità, Via Santena, 19, I-10126, Turin, Italy aut NATIONALLICENCE 700 1- deLange Gerda Blood Transfusion Service, Central Lab of the Netherlands Red Cross, Plesmanlaan 125, NL-1066 CX, Amsterdam, The Netherlands aut NATIONALLICENCE 700 1- DeMarchi Mario Cattedra di Genetica Medica dell'Università, Policlinico Le Scotte, I-53100, Siena, Italy aut NATIONALLICENCE 700 1- Gallina Roberto Dipartimento di Genetica, Biologia e Chimica Medica, and Centro CNR Immunogenetica ed Istocompatibilità, Via Santena, 19, I-10126, Turin, Italy aut NATIONALLICENCE 700 1- Oliviero Salvatore Department of Biological Chemistry and Molecular Pharmacology, Harvard Medical School, 02115, Boston, MA, USA aut NATIONALLICENCE 700 1- Vlug Arjen Blood Transfusion Service, Central Lab of the Netherlands Red Cross, Plesmanlaan 125, NL-1066 CX, Amsterdam, The Netherlands aut NATIONALLICENCE 700 1- Carbonara Angelo Dipartimento di Genetica, Biologia e Chimica Medica, and Centro CNR Immunogenetica ed Istocompatibilità, Via Santena, 19, I-10126, Turin, Italy aut NATIONALLICENCE 773 0- Human Genetics Springer-Verlag 86/2(1990-12-01), 191-197 0340-6717 86:2<191 1990 86 439 Metadata rights reserved Springer special CC-BY-NC licence nationallicence BK010053 XK010053 XK010000 NATIONALLICENCE NATIONALLICENCE NL-springer