Inherited CAG·CTG allele length is a major modifier of somatic mutation length variability in Huntington disease

New Huntington disease mutation arising

New Huntington disease mutation arising from a paternal CAG34 allele showing somatic length variation in serially passaged lymphoblasts

✍ Milena Cannella; Vittorio Maglione; Tiziana Martino; Maria Simonelli; Giuseppe R 📂 Article 📅 2005 🏛 John Wiley and Sons 🌐 English ⚖ 140 KB

## Abstract The analysis of somatic CAG triplet variation in lymphoblastoid cell lines from subjects carrying alleles of intermediate length (IA~33CAG~ and IA~34CAG~) in Huntington disease (HD) gene disclosed instability in the DNA of the person, from whom a new expansion mutation of 45 triplets or