Geng Qian, Wu Weiqing, Luo Fuwei, Xu Zhiyong, Chen Wubin, Li Fang, Xie Jiansheng
Central Laboratory, Shenzhen Maternity and Child Healthcare Hospital, Shenzhen, Guangdong 518048, P.R. China.
Zhonghua Yi Xue Yi Chuan Xue Za Zhi. 2013 Jun;30(3):288-92. doi: 10.3760/cma.j.issn.1003-9406.2013.03.008.
To use array comparative genomic hybridization (array-CGH) and multiplex ligation-dependent probe amplification (MLPA) to detect unbalanced rearrangements in 4 cases suspected to have chromosome disease but were undetected with conventional karyotype analysis, and to assess the applicability of array-CGH and MLPA for detection of unbalanced translocation.
Genomic DNA was extracted with standard procedures. All cases were analyzed by array-CGH and subtelomeric MLPA.
All of the cases were identified to have unbalanced translocations by array-CGH analysis, among which 3 were consistent with subtelomeric MLPA analysis. For the remaining one, its chromosomal abnormality was not detected by MLPA as the imbalance has occurred outside of target regions.
Both array-CGH and MLPA techniques can complement conventional karyotyping for detecting unbalanced translocations. The combination features both high resolution and efficiency for clinical use.
应用阵列比较基因组杂交技术（array-CGH）和多重连接依赖探针扩增技术（MLPA）检测4例疑似染色体疾病但常规核型分析未检出的不平衡重排，并评估array-CGH和MLPA在检测不平衡易位中的适用性。
采用标准程序提取基因组DNA。所有病例均采用array-CGH和亚端粒MLPA进行分析。
通过array-CGH分析，所有病例均被鉴定为存在不平衡易位，其中3例与亚端粒MLPA分析结果一致。对于其余1例，由于不平衡发生在目标区域之外，MLPA未检测到其染色体异常。
array-CGH和MLPA技术均可作为常规核型分析的补充用于检测不平衡易位。两者结合具有高分辨率和高效性，适用于临床应用。
