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A fluorescent method for detecting low-grade 11patUPD mosaicism in Beckwith-Wiedemann syndrome.
- Source :
-
Molecular and cellular probes [Mol Cell Probes] 2003 Dec; Vol. 17 (6), pp. 295-9. - Publication Year :
- 2003
-
Abstract
- 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/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.
Details
- Language :
- English
- ISSN :
- 0890-8508
- Volume :
- 17
- Issue :
- 6
- Database :
- MEDLINE
- Journal :
- Molecular and cellular probes
- Publication Type :
- Academic Journal
- Accession number :
- 14602480
- Full Text :
- https://doi.org/10.1016/j.mcp.2003.07.002