A multiplex molecular assay for the detection of uniparental disomy for human chromosome 15

Emiliano Giardina, Cristina Peconi, Raffaella Cascella, Cecilia Sinibaldi, Anna Maria Nardone, Giuseppe Novelli

Research output: Contribution to journalArticle

Abstract

Uniparental disomy (UPD) describes the inheritance of both homologues of a pair of chromosomes from only one parent. During the last two decades, the clinical impact of UPD and associated imprinting disorders, such as Prader-Willi syndrome (PWS) and Angelman syndrome (AS) increasingly have come to our attention. About 25% of PWS and 3%-5% of AS are a consequence of UPD with the resulting phenotype generated from the parent of origin of the disomic pair of chromosomes 15. Chromosome 15 UPD testing is relevant in various prenatal diagnostic conditions including apparent confined placental mosaicism, homologous and nonhomologous Robertsonian translocations involving chromosome 15 and 14, and as genomic biomarker for detecting chromosome origin. In this work we developed and validated a two fluorescent STRs multiplex assay for a rapid, economic and fully informative detection of UPD 15 by capillary electrophoresis.

Original languageEnglish
Pages (from-to)4775-4779
Number of pages5
JournalElectrophoresis
Volume29
Issue number23
DOIs
Publication statusPublished - 2008

Keywords

  • Angelman syndrome
  • Microsatellites
  • Prader-Willi syndrome
  • Uniparental disomy

ASJC Scopus subject areas

  • Biochemistry
  • Clinical Biochemistry

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    Giardina, E., Peconi, C., Cascella, R., Sinibaldi, C., Nardone, A. M., & Novelli, G. (2008). A multiplex molecular assay for the detection of uniparental disomy for human chromosome 15. Electrophoresis, 29(23), 4775-4779. https://doi.org/10.1002/elps.200800047