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Analysis of (CAG)n size heterogeneity in somatic and sperm cell DNA from intermediate and expanded Huntington disease gene carriers

1997; Wiley; Volume: 10; Issue: 6 Linguagem: Inglês

10.1002/(sici)1098-1004(1997)10

1098-1004

Barbara Giovannone, G. Sabbadini, Luigi Di Maio, Olga Calabrese, Imma Castaldo, Marina Frontali, Andrea Novelletto, Ferdinando Squitieri,

RNA Research and Splicing

Human MutationVolume 10, Issue 6 p. 458-464 Research Article Analysis of (CAG)n size heterogeneity in somatic and sperm cell DNA from intermediate and expanded Huntington disease gene carriers Barbara Giovannone, Barbara Giovannone Dipartimento di Biologia, Università “Tor Vergata,” Rome, ItalySearch for more papers by this authorGuglielmo Sabbadini, Guglielmo Sabbadini Istituto di Medicina Sperimentale, C.N.R., Rome, ItalySearch for more papers by this authorLuigi Di Maio, Luigi Di Maio Dipartimento di Scienze Neurologiche, Università “Federico II,” Naples, ItalySearch for more papers by this authorOlga Calabrese, Olga Calabrese I.R.C.C.S. Neuromed, Pozzilli, Isernia, Italy Unitá di Genetica Molecolare, Università “Federico II,” Naples, ItalySearch for more papers by this authorImma Castaldo, Imma Castaldo I.R.C.C.S. Neuromed, Pozzilli, Isernia, Italy Unitá di Genetica Molecolare, Università “Federico II,” Naples, ItalySearch for more papers by this authorMarina Frontali, Marina Frontali Istituto di Medicina Sperimentale, C.N.R., Rome, ItalySearch for more papers by this authorAndrea Novelletto, Corresponding Author Andrea Novelletto Dipartimento di Biologia, Università “Tor Vergata,” Rome, ItalyDept. of Biology, University Tor Vergata, via E. Carnevale, 00133 Rome, ItalySearch for more papers by this authorFerdinando Squitieri, Ferdinando Squitieri Dipartimento di Scienze Neurologiche, Università “Federico II,” Naples, Italy I.R.C.C.S. Neuromed, Pozzilli, Isernia, ItalySearch for more papers by this author Barbara Giovannone, Barbara Giovannone Dipartimento di Biologia, Università “Tor Vergata,” Rome, ItalySearch for more papers by this authorGuglielmo Sabbadini, Guglielmo Sabbadini Istituto di Medicina Sperimentale, C.N.R., Rome, ItalySearch for more papers by this authorLuigi Di Maio, Luigi Di Maio Dipartimento di Scienze Neurologiche, Università “Federico II,” Naples, ItalySearch for more papers by this authorOlga Calabrese, Olga Calabrese I.R.C.C.S. Neuromed, Pozzilli, Isernia, Italy Unitá di Genetica Molecolare, Università “Federico II,” Naples, ItalySearch for more papers by this authorImma Castaldo, Imma Castaldo I.R.C.C.S. Neuromed, Pozzilli, Isernia, Italy Unitá di Genetica Molecolare, Università “Federico II,” Naples, ItalySearch for more papers by this authorMarina Frontali, Marina Frontali Istituto di Medicina Sperimentale, C.N.R., Rome, ItalySearch for more papers by this authorAndrea Novelletto, Corresponding Author Andrea Novelletto Dipartimento di Biologia, Università “Tor Vergata,” Rome, ItalyDept. of Biology, University Tor Vergata, via E. Carnevale, 00133 Rome, ItalySearch for more papers by this authorFerdinando Squitieri, Ferdinando Squitieri Dipartimento di Scienze Neurologiche, Università “Federico II,” Naples, Italy I.R.C.C.S. Neuromed, Pozzilli, Isernia, ItalySearch for more papers by this author First published: 08 January 1999 https://doi.org/10.1002/(SICI)1098-1004(1997)10:6 3.0.CO;2-9Citations: 22AboutPDF ToolsRequest permissionExport citationAdd to favoritesTrack citation ShareShare Give accessShare full text accessShare full-text accessPlease review our Terms and Conditions of Use and check box below to share full-text version of article.I have read and accept the Wiley Online Library Terms and Conditions of UseShareable LinkUse the link below to share a full-text version of this article with your friends and colleagues. Learn more.Copy URL Share a linkShare onFacebookTwitterLinkedInRedditWechat Abstract The length of the CAG repeat responsible for Huntington disease has been analysed by two PCR methods in blood and sperm DNA of 13 expansion carriers, two carriers of intermediate alleles, and four normal subjects. The two methods consistently confirmed size heterogeneity, more pronounced in sperm and confined to the CAG stretch. Based on densitometric scanning of films, four indexes addressed to different features of the PCR pattern were used to quantitate mosaicism. These revealed strong correlations with CAG size and intergenerational instability. However, mosaicism did not show a greater similarity in sibs who shared the same HD chromosome, nor was correlated with instability in the proband's pedigree. Our data do not support the hypothesis that cis-acting factors play a major role in the instability and leave the CAG size per se as the major determinant of sperm cell CAG instability. Hum Mutat 10:458–464, 1997. © 1997 Wiley-Liss, Inc. Citing Literature Volume10, Issue61997Pages 458-464 RelatedInformation