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Emiliano Giardina Cristina Peconi Raffaella Cascella Cecilia Sinibaldi Valeria Foti Cuzzola Anna Maria Nardone Placido Bramanti Giuseppe Novelli 《Electrophoresis》2009,30(11):2008-2011
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. 相似文献
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