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

4 Citations (Scopus)

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

Fingerprint

Uniparental Disomy
Chromosomes, Human, Pair 7
Human Chromosomes
Chromosomes
Assays
Mothers
Genes
Meiosis
Economics
Alleles
Gene Expression

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., ... 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

A multiplex molecular assay for the detection of uniparental disomy for human chromosome 7. / Giardina, Emiliano; Peconi, Cristina; Cascella, Raffaella; Sinibaldi, Cecilia; Cuzzola, Valeria Foti; Nardone, Anna Maria; Bramanti, Placido; Novelli, Giuseppe.

In: Electrophoresis, Vol. 30, No. 11, 06.2009, p. 2008-2011.

Research output: Contribution to journalArticle

Giardina, E, Peconi, C, Cascella, R, Sinibaldi, C, Cuzzola, VF, Nardone, AM, Bramanti, P & Novelli, G 2009, 'A multiplex molecular assay for the detection of uniparental disomy for human chromosome 7', Electrophoresis, vol. 30, no. 11, pp. 2008-2011. https://doi.org/10.1002/elps.200800744
Giardina, Emiliano ; Peconi, Cristina ; Cascella, Raffaella ; Sinibaldi, Cecilia ; Cuzzola, Valeria Foti ; Nardone, Anna Maria ; Bramanti, Placido ; Novelli, Giuseppe. / A multiplex molecular assay for the detection of uniparental disomy for human chromosome 7. In: Electrophoresis. 2009 ; Vol. 30, No. 11. pp. 2008-2011.
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