Detection of clinically relevant exonic copy-number changes by array CGH.
Detection of clinically relevant exonic copy-number changes by array CGH.
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DOI：
10.1002/humu.21360
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发表时间：
2010-12
期刊：
影响因子：
3.9
通讯作者：
Stankiewicz, Pawel
中科院分区：
文献类型：
--
作者：
Boone, Philip M.;Bacino, Carlos A.;Shaw, Chad A.;Eng, Patricia A.;Hixson, Patricia M.;Pursley, Amber N.;Kang, Sung-Hae L.;Yang, Yaping;Wiszniewska, Joanna;Nowakowska, Beata A.;del Gaudio, Daniela;Xia, Zhilian;Simpson-Patel, Gayle;Immken, LaDonna L.;Gibson, James B.;Tsai, Anne C. -H.;Bowers, Jennifer A.;Reimschisel, Tyler E.;Schaaf, Christian P.;Potocki, Lorraine;Scaglia, Fernando;Gambin, Tomasz;Sykulski, Maciej;Bartnik, Magdalena;Derwinska, Katarzyna;Wisniowiecka-Kowalnik, Barbara;Lalani, Seema R.;Probst, Frank J.;Bi, Weimin;Beaudet, Arthur L.;Patel, Ankita;Lupski, James R.;Cheung, Sau Wai;Stankiewicz, Pawel
关键词：
阵列比较基因组杂交 (aCGH) 是对基因组拷贝数变异 (CNV) 引起的疾病进行分子阐明和诊断的强大工具。然而，基因内缺失或重复（包括小于基因的基因组间隔）仍然超出了大多数临床 aCGH 分析的检测极限。增加阵列探针数量可提高基因组分辨率，尽管较高的成本可能会限制实施，而且良性 CNV 的增强检测可能会混淆临床解释。我们设计了一种覆盖选定疾病和候选基因的外显子阵列，并在临床上使用它来识别整个基因组的损失或增益，涉及至少一个外显子和小至数百个碱基对的大小。在一些患者中，检测到的拷贝数变化发生在已知导致观察到的临床表型的基因内，证明该阵列能够以亚千碱基分辨率检测临床相关的 CNV。总之，我们证明了定制设计的外显子靶向寡核苷酸阵列在检测具有各种临床表型的患者的基因内拷贝数变化方面的实用性。
Array comparative genomic hybridization (aCGH) is a powerful tool for the molecular elucidation and diagnosis of disorders resulting from genomic copy-number variation (CNV). However, intragenic deletions or duplications—those including genomic intervals of a size smaller than a gene—have remained beyond the detection limit of most clinical aCGH analyses. Increasing array probe number improves genomic resolution, although higher cost may limit implementation, and enhanced detection of benign CNV can confound clinical interpretation. We designed an array with exonic coverage of selected disease and candidate genes and used it clinically to identify losses or gains throughout the genome involving at least one exon and as small as several hundred base pairs in size. In some patients, the detected copy-number change occurs within a gene known to be causative of the observed clinical phenotype, demonstrating the ability of this array to detect clinically relevant CNVs with subkilobase resolution. In summary, we demonstrate the utility of a custom-designed, exon-targeted oligonucleotide array to detect intragenic copy-number changes in patients with various clinical phenotypes.
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