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

โœ Scribed by Emiliano Giardina; Cristina Peconi; Raffaella Cascella; Cecilia Sinibaldi; Valeria Foti Cuzzola; Anna Maria Nardone; Placido Bramanti; Giuseppe Novelli


Publisher
John Wiley and Sons
Year
2009
Tongue
English
Weight
184 KB
Volume
30
Category
Article
ISSN
0173-0835

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โœฆ Synopsis


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, CEโ€based method for a rapid and economic detection based on twoโ€fluorescent STR multiplexes.


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