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A multiplex molecular assay for the detection of uniparental disomy for human chromosome 15
Author(s) -
Giardina Emiliano,
Peconi Cristina,
Cascella Raffaella,
Sinibaldi Cecilia,
Nardone Anna Maria,
Novelli Giuseppe
Publication year - 2008
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.200800047
Subject(s) - uniparental disomy , multiplex , genetics , genomic imprinting , biology , homologous chromosome , chromosome , angelman syndrome , karyotype , gene , dna methylation , gene expression
Abstract Uniparental disomy (UPD) describes the inheritance of both homologues of a pair of chromosomes from only one parent. During the last two decades, the clinical impact of UPD and associated imprinting disorders, such as Prader‐Willi syndrome (PWS) and Angelman syndrome (AS) increasingly have come to our attention. About 25% of PWS and 3%–5% of AS are a consequence of UPD with the resulting phenotype generated from the parent of origin of the disomic pair of chromosomes 15. Chromosome 15 UPD testing is relevant in various prenatal diagnostic conditions including apparent confined placental mosaicism, homologous and nonhomologous Robertsonian translocations involving chromosome 15 and 14, and as genomic biomarker for detecting chromosome origin. In this work we developed and validated a two fluorescent STRs multiplex assay for a rapid, economic and fully informative detection of UPD 15 by capillary electrophoresis.