A multiplex molecular assay for the detection of uniparental disomy for human chromosome 7 |
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| Authors: | Emiliano Giardina Cristina Peconi Raffaella Cascella Cecilia Sinibaldi Valeria Foti Cuzzola Anna Maria Nardone Placido Bramanti Giuseppe Novelli |
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| Institution: | 1. Department of Biopathology, Centre of Excellence for Genomic risk Assessment in Multifactorial and Complex Diseases, School of Medicine, University of Rome “Tor Vergata”, Italy;2. PTV Medical Hospital Tor Vergata University, Italy;3. IRCCS Centro Neurolesi “Bonino–Pulejo”, Messina, Italy;4. Department of Cardiovascular Medicine, University of Arkansas for Medical Sciences, Little Rock, AR, USA;5. Fondazione Livio Patrizi, Rome, Italy |
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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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| Keywords: | Microsatellites Silver– Russell Syndrome STRs Uniparental disomy |
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