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© 1994 Oxford University Press

OTHER

Polymorphism analysis of the huntingtin gene in Italian families affected with Huntington disease

Andrea Novelletto*, Francesca Persichetti, Guglielmo Sabbadini1, Paola Mandich2, Emilia Bellone2, Franco Ajmar2, F. Squitieri3, G. Campanella3, Angela Bozza4, Marcy E. MacDonald5, James F. Gusella5 and Marina Frontali1

Dipartimento di Biologia, Università di Roma ‘Tor Vergata’, via E Carnevale 00173 Rome, Italy 1Istituto di Medicina Sperimentale CNR, 00137 Rome, Italy 2Istituto di Biologia e Genetica, Università di Genova 16132 Genoa, Italy 3II Clinica Neurologica, Università di Napoli 80131 Naples, Italy 4Istituto di Chimica Biologica, Università di Ferrara 44100 Ferrara, Italy 5Molecular Neurogenetics Laboratory, Massachusetts General Hospital Boston, MA 02114, USA

*To whom correspondence should be addressed

Received March 17, 1994; Revised May 3, 1994; Accepted May 3, 1994

Two sources of variation in the huntingtin gene, the length of the CCG-rich segment downstream to the (CAG)n stretch undergoing expansion in Huntington disease (HD) and the deletion of 3 bp at codon positions 2642–2645({Delta}2642), were analysed on the normal and HD chromosomes of 80 Italian families affected with HD. No instances of meiotic instability of the CCG-rich segment were detected. A strong linkage disequilibrium was found between the HD mutation and alleles at both polymorphic regions: CCG-rich length alleles different from 176 bp are underrepresented while {Delta}2642 is overrepresented on HD chromosomes. The presence of such alleles on HD chromosomes does not affect age at onset of the disease. Normal chromosomes displayed a non-random association, shorter (CAG)n segments being preferentially followed by longer CCG-rich segments. Finally, the finding, among normal subjects, of carriers of variants on both chromosomes denotes that variation at either of the two polymorphisms does not impair the function of the huntingtin gene product.


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