TY - JOUR
T1 - A fluorescent method for detecting low-grade 11patUPD mosaicism in Beckwith-Wiedemann syndrome
AU - Russo, Silvia
AU - Mencarelli, Monica
AU - Cavalleri, Florinda
AU - Selicorni, Angelo
AU - Cogliati, Francesca
AU - Larizza, Lidia
PY - 2003/12
Y1 - 2003/12
N2 - 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.
AB - 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.
KW - Beckwith-Wiedemann syndrome
KW - Fluorescence-based and radioactive methodology
KW - Mosaicism
KW - Uniparental disomy
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U2 - 10.1016/j.mcp.2003.07.002
DO - 10.1016/j.mcp.2003.07.002
M3 - Article
C2 - 14602480
AN - SCOPUS:0242383507
VL - 17
SP - 295
EP - 299
JO - Molecular and Cellular Probes
JF - Molecular and Cellular Probes
SN - 0890-8508
IS - 6
ER -