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

doi:10.1002/elps.200800744

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 journal › Article › peer-review

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 language	English
Pages (from-to)	2008-2011
Number of pages	4
Journal	Electrophoresis
Volume	30
Issue number	11
DOIs	https://doi.org/10.1002/elps.200800744
Publication status	Published - Jun 2009

Keywords

Microsatellites
Silver-Russell Syndrome
STRs
Uniparental disomy

ASJC Scopus subject areas

Biochemistry
Clinical Biochemistry

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10.1002/elps.200800744

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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 journal › Article › peer-review

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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.",

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AU - Giardina, Emiliano

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AU - Cuzzola, Valeria Foti

AU - Nardone, Anna Maria

AU - Bramanti, Placido

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

Abstract

Keywords

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