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EnglishThe 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/Al 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.
| Titolo: | A fluorescent method for detecting low-grade 11patUPD mosaicism in Beckwith-Wiedemann syndrome |
| Autori: | MENCARELLI, MONICA (Secondo) LARIZZA, LIDIA (Ultimo) |
| Parole Chiave: | Uniparental Disomy ; Microsatellite Repeats ; Alleles ; Mosaicism ; Humans ; Fluorescent Dyes ; Isotope Labeling ; Beckwith-Wiedemann Syndrome ; Genomic Imprinting ; Chromosomes, Human, Pair 11 |
| Settore Scientifico Disciplinare: | Settore MED/03 - Genetica Medica |
| Data di pubblicazione: | 1986 |
| Rivista: | |
| Tipologia: | Article (author) |
| Digital Object Identifier (DOI): | 10.1016/j.mcp.2003.07.002 |
| Appare nelle tipologie: | 01 - Articolo su periodico |
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