Giardina Emiliano, Peconi Cristina, Cascella Raffaella, Sinibaldi Cecilia, Nardone Anna Maria, Novelli Giuseppe
Department of Biopathology, Centre of Excellence for Genomic risk Assessment in Multifactorial and Complex Diseases, School of Medicine, University of Rome Tor Vergata, Italy.
Electrophoresis. 2008 Dec;29(23):4775-9. doi: 10.1002/elps.200800047.
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.
单亲二体（UPD）是指一对染色体的两条同源染色体均仅来自父母一方。在过去二十年中，UPD及相关印记障碍（如普拉德-威利综合征（PWS）和安吉尔曼综合征（AS））的临床影响越来越受到我们的关注。约25%的PWS和3%-5%的AS是UPD的结果，其产生的表型由15号染色体二体对的起源亲本产生。15号染色体UPD检测在各种产前诊断情况下都具有相关性，包括明显的局限性胎盘嵌合体、涉及15号和14号染色体的同源和非同源罗伯逊易位，以及作为检测染色体起源的基因组生物标志物。在这项工作中，我们开发并验证了一种双荧光STR多重检测方法，用于通过毛细管电泳快速、经济且全面地检测15号染色体的UPD。
