Altug-Teber Ozge, Dufke Andreas, Poths Sven, Mau-Holzmann Ulrike Angelika, Bastepe Murat, Colleaux Laurence, Cormier-Daire Valérie, Eggermann Thomas, Gillessen-Kaesbach Gabriele, Bonin Michael, Riess Olaf
Medizinische Genetik, Universitätsklinikum, Tübingen, Germany.
Hum Mutat. 2005 Aug;26(2):153-9. doi: 10.1002/humu.20198.
To date, uniparental disomy (UPD) with phenotypic relevance is described for different chromosomes and it is likely that additional as yet unidentified UPD phenotypes exist. Due to technical difficulties and limitations of time and resources, molecular analyses for UPD using microsatellite markers are only performed in cases with specific phenotypic features. In this study, we carried out a whole genome UPD screening based on a microarray genotyping technique. Six patients with the diagnosis of both complete or segmental UPD including Prader-Willi syndrome (PWS; matUPD15), Angelman syndrome (AS; patUPD15), Silver-Russell syndrome (SRS; matUPD7), Beckwith-Wiedemann syndrome (BWS; patUPD11p), pseudohypoparathyroidism (PHP; patUPD20q) and a rare chromosomal rearrangement (patUPD2p, matUPD2q), were genotyped using the GeneChip Human Mapping 10K Array. Our results demonstrate the presence of UPD in the patients with high efficiency and reveal clues about the mechanisms of UPD formation. We thus conclude that array based SNP genotyping is a fast, cost-effective, and reliable approach for whole genome UPD screening.
迄今为止，已报道了与表型相关的不同染色体单亲二体（UPD）情况，很可能还存在其他尚未确定的UPD表型。由于技术难题以及时间和资源的限制，仅在具有特定表型特征的病例中使用微卫星标记进行UPD的分子分析。在本研究中，我们基于微阵列基因分型技术进行了全基因组UPD筛查。对6例诊断为完全或节段性UPD的患者进行基因分型，这些患者包括普拉德-威利综合征（PWS；母源UPD15）、天使综合征（AS；父源UPD15）、Silver-Russell综合征（SRS；母源UPD7）、贝克威思-维德曼综合征（BWS；父源UPD11p）、假性甲状旁腺功能减退症（PHP；父源UPD20q）以及一种罕见的染色体重排（父源UPD2p，母源UPD2q），使用基因芯片人类图谱10K阵列进行基因分型。我们的结果高效地证明了患者中UPD的存在，并揭示了UPD形成机制的线索。因此，我们得出结论，基于阵列的单核苷酸多态性（SNP）基因分型是一种用于全基因组UPD筛查的快速、经济高效且可靠的方法。
