A fluorescent method for detecting low-grade 11patUPD mosaicism in Beckwith-Wiedemann syndrome

Silvia Russo, Monica Mencarelli, Florinda Cavalleri, Angelo Selicorni, Francesca Cogliati, Lidia Larizza

Research output: Contribution to journalArticlepeer-review


The quantitative evaluation of mosaicism for uniparental disomy (UPD) involving a restricted chromosomal region requires the availability of a sensitive and reproducible method that is capable of detecting even a small percentage of disomic cells and avoiding false positive and false negative results. The occurrence of UPD is usually monitored by means of the parent-proband segregation analysis of microsatellites mapping to the target region. We here describe the quantitative blood cell evaluation of segmental mosaic UPD11, a marker of Beckwith-Wiedemann syndrome, by means of the segregation analysis of 11p15 microsatellites using both radioactive and fluorescence-based techniques. As the greater amplification efficiency of the shorter allele in heterozygous subjects may bias the correct evaluation of disomy, the mean short/long allele ratio was established at three loci of each of 30 normal heterozygous subjects, as well as the peak As/A l area in the presence of 50% of each allele. The interval was defined using a 5% level of significance. The results show that the fluorescence-based technique is superior to radioactivity in detecting the subtle allelic imbalances present in low-grade mosaicism conditions.

Original languageEnglish
Pages (from-to)295-299
Number of pages5
JournalMolecular and Cellular Probes
Issue number6
Publication statusPublished - Dec 2003


  • Beckwith-Wiedemann syndrome
  • Fluorescence-based and radioactive methodology
  • Mosaicism
  • Uniparental disomy

ASJC Scopus subject areas

  • Cell Biology
  • Molecular Biology


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