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

Andrea Novelletto, Francesca Persichetti, Guglielmo Sabbadini, Paola Mandich, Emilia Bellone, Franco Ajmar, F. Squitieri, G. Campanella, Angela Bozza, Marcy E. MacDonald, James F. Gusella, Marina Frontali

Research output: Contribution to journalArticlepeer-review


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 (Δ2642) 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 Δ2642 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.

Original languageEnglish
Pages (from-to)1129-1132
Number of pages4
JournalHuman Molecular Genetics
Issue number7
Publication statusPublished - Jul 1994

ASJC Scopus subject areas

  • Genetics
  • Statistics, Probability and Uncertainty
  • Applied Mathematics
  • Public Health, Environmental and Occupational Health
  • Molecular Biology
  • Genetics(clinical)


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