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

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.

journal_name

Mol Cell Probes

journal_title

Molecular and cellular probes

authors

Russo S,Mencarelli M,Cavalleri F,Selicorni A,Cogliati F,Larizza L

doi

10.1016/j.mcp.2003.07.002

subject

Has Abstract

pub_date

2003-12-01 00:00:00

pages

295-9

issue

6

eissn

0890-8508

issn

1096-1194

pii

S0890850803000744

journal_volume

17

pub_type

杂志文章

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