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.
Giardina, E., Peconi, C., Cascella, R., Sinibaldi, C., Foti Cuzzola, V., Nardone, A., et al. (2009). A multiplex molecular assay for the detection of uniparental disomy for human chromosome 7. ELECTROPHORESIS, 30(11), 2008-2011 [10.1002/elps.200800744].
A multiplex molecular assay for the detection of uniparental disomy for human chromosome 7
GIARDINA, EMILIANO;NOVELLI, GIUSEPPE
2009-06-01
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.I documenti in IRIS sono protetti da copyright e tutti i diritti sono riservati, salvo diversa indicazione.
