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A multiplex molecular assay for the detection of uniparental disomy for human chromosome 7
Author(s) -
Giardina Emiliano,
Peconi Cristina,
Cascella Raffaella,
Sinibaldi Cecilia,
Foti Cuzzola Valeria,
Nardone Anna Maria,
Bramanti Placido,
Novelli Giuseppe
Publication year - 2009
Publication title -
electrophoresis
Language(s) - English
Resource type - Journals
SCImago Journal Rank - 0.666
H-Index - 158
eISSN - 1522-2683
pISSN - 0173-0835
DOI - 10.1002/elps.200800744
Subject(s) - multiplex , uniparental disomy , chromosome , biology , multiplex polymerase chain reaction , genetics , microbiology and biotechnology , computational biology , gene , polymerase chain reaction , karyotype
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.