A multiplex molecular assay for the detection of uniparental disomy for human chromosome 7

Emiliano Giardina, Cristina Peconi, Raffaella Cascella, Cecilia Sinibaldi, Valeria Foti Cuzzola, Anna Maria Nardone, Placido Bramanti, 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. This condition is often caused by nondisjunction events during meiosis. UPD has been reported as a rare cause of the autosomal recessive disorder and aberrant expression of imprinted genes that are expressed from only one parental allele, either maternal or paternal. Maternal and/or paternal UPD for chromosome 7 is the most frequently observed UPD after UPD15. Here we developed and validated, for the first time, an effective, CE-based method for a rapid and economic detection based on two-fluorescent STR multiplexes.

Original languageEnglish
Pages (from-to)2008-2011
Number of pages4
JournalElectrophoresis
Volume30
Issue number11
DOIs
Publication statusPublished - Jun 2009

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Keywords

  • Microsatellites
  • Silver-Russell Syndrome
  • STRs
  • Uniparental disomy

ASJC Scopus subject areas

  • Biochemistry
  • Clinical Biochemistry

Cite this

Giardina, E., Peconi, C., Cascella, R., Sinibaldi, C., Cuzzola, V. F., Nardone, A. M., Bramanti, P., & Novelli, G. (2009). A multiplex molecular assay for the detection of uniparental disomy for human chromosome 7. Electrophoresis, 30(11), 2008-2011. https://doi.org/10.1002/elps.200800744