Department of Genetics and Genomic Sciences, Mount Sinai School of Medicine of New York University, New York City, New York 10029, USA.
Genet Med. 2010 Feb;12(2):85-92. doi: 10.1097/GIM.0b013e3181cc75d0.
To determine the sensitivity of whole-genome oligonucleotide array comparative genomic hybridization for the detection of mosaic cytogenetic abnormalities.
Mosaicism sensitivity was evaluated by testing artificially derived whole chromosome and segmental aneuploidies ranging from 0% to 100% abnormal and additional naturally occurring mosaic specimens.
Using combined dye-reversed replicates and an unfiltered analysis, oligonucleotide array comparative genomic hybridization detected as low as 10% and 20-30% mosaicism from whole chromosome and segmental aneuploidies, respectively. To investigate discrepancies between cultured and uncultured specimens, array comparative genomic hybridization was performed on DNA from additional direct product of conception specimens with abnormal karyotypes in culture. Interestingly, 5 of 10 product of conception specimens with double trisomies on cultured cell analysis had only a single trisomy by array comparative genomic hybridization and quantitative polymerase chain reaction on DNA from the uncultured direct specimen, and all harbored the more commonly observed trisomy. Thus, oligonucleotide array comparative genomic hybridization revealed previously unidentified placental mosaicism in half of the products of conception with double-aneuploid conventional karyotypes.
Oligonucleotide array comparative genomic hybridization can detect low-level mosaicism for whole chromosome ( approximately 10%) and segmental ( approximately 20-30%) aneuploidies when using specific detection criteria. In addition, careful interpretation is required when performing array comparative genomic hybridization on DNA isolated from direct specimens as the results may differ from the cultured chromosome analysis.
确定全基因组寡核苷酸微阵列比较基因组杂交技术检测嵌合体细胞遗传学异常的灵敏度。
通过检测人为产生的从 0%到 100%的异常的整条染色体和部分染色体非整倍体，以及额外的自然发生的嵌合体标本，评估嵌合体的灵敏度。
使用结合了染料反向重复和未过滤分析的方法，寡核苷酸微阵列比较基因组杂交技术可以检测到低至 10%和 20-30%的整条染色体和部分染色体非整倍体嵌合体。为了研究培养和未培养标本之间的差异，对培养中核型异常的直接妊娠产物的 DNA 进行了微阵列比较基因组杂交分析。有趣的是，在培养细胞分析中存在双三体的 10 个妊娠产物中有 5 个仅通过微阵列比较基因组杂交和未培养直接标本的定量聚合酶链反应检测到单三体，并且所有都存在更为常见的三体。因此，寡核苷酸微阵列比较基因组杂交技术揭示了一半具有双非整倍体常规核型的妊娠产物中以前未识别的胎盘嵌合体。
当使用特定的检测标准时，寡核苷酸微阵列比较基因组杂交技术可以检测到低水平的整条染色体（约 10%）和部分染色体（约 20-30%）非整倍体嵌合体。此外，当对直接标本分离的 DNA 进行微阵列比较基因组杂交分析时，需要仔细解释，因为结果可能与培养染色体分析不同。
