Array comparative genomic hybridization analysis in first-trimester spontaneous abortions with 'normal' karyotypes
Array comparative genomic hybridization analysis in first-trimester spontaneous abortions with 'normal' karyotypes
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DOI：
10.1002/ajmg.a.31421
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发表时间：
2006-09-15
影响因子：
2
通讯作者：
Matsumoto, Naomichi
中科院分区：
文献类型：
--
作者：
Shimokawa, Osamu;Harada, Naoki;Matsumoto, Naomichi
对20例染色体G显带正常的早孕期自然流产患者的绒毛组织标本进行阵列比较基因组杂交分析。构建了一个包含2,173个BAC克隆的微阵列，以1.5-Mb的分辨率覆盖整个基因组，并用于分析。发现两个缺失：3p26.2-p26.3的1.4-Mb缺失和13q32.3-QTER的13.7-Mb缺失。对具有13.7-Mb缺失的样本的染色体制备的重新检查发现，含有13q染色体的细胞和具有46，XX染色体的细胞混合在一起，后者可能来自受污染的蜕膜细胞。这使得1.4-Mb 3p缺失成为唯一检测到亚显微不平衡的实例，使得G显带正常流产的频率为19%(5%)。(C)2006年Wiley-Liss，Inc.
Array comparative genomic hybridization (array CGH) analysis was conducted in chorionic villous samples from 20 first-trimester spontaneous abortions with G-banding normal chromosomes. A microarray, containing 2,173 BAC clones and covering the whole genome with a 1.5-Mb resolution, was constructed and used in the analysis. Two deletions were identified: a 1.4-Mb deletion at 3p26.2-p26.3 and a 13.7-Mb deletion at 13q32.3-qter. Reexamination of chromosome preparations from the sample with the 13.7-Mb deletion documented a mixture of cells with the 13q-chromosome and those with 46,XX chromosomes, the latter of which are likely to have been derived from contaminating decidual cells. This left the 1.4-Mb 3p deletion as the only instance with submicroscopic imbalance detected, giving a frequency of 1 in 19 (5%) G-banding normal abortions. (c) 2006 Wiley-Liss, Inc.