应用Array-CGH及MLPA技术检测核型不明的4例染色体不平衡易位  

Application of Array-CGH and MLPA for detection of 4 cryptic unbalanced translocaUons

作　　者：耿茜[1] 吴维青[1] 罗福薇[1] 徐志勇[1] 陈武斌[1] 李芳[1] 谢建生[1] 

机构地区：[1]广东省深圳市妇幼保健院中心实验室,518048

出　　处：《中华医学遗传学杂志》2013年第3期288-292,共5页Chinese Journal of Medical Genetics

基　　金：基金项目：深圳市科技计划（医疗卫生类）重点项目（201001016）

摘　　要：目的应用微阵列比较基因组杂交（arraycomparativegenomichybridization，Array-CGH）和多重连接依赖探针扩增（multiplexligation—dependentprobeamplification，MLPA）技术分析疑似为染色体病、但核型分析未能诊断的染色体不平衡易位，并探讨两种技术在染色体不平衡易位检测中的应用价值。方法常规提取DNA，并分别进行Array-CGH及染色体亚端粒区MLPA分析。结果4例患者经Array-CGH分析均诊断为染色体不平衡易位，亚端粒区经MLPA检测的3例与Array—CGH结果吻合，1例因缺失位置不在检测范围内而未能检出。结论Array-CGH和亚端粒区MLPA分析可以弥补核型分析的不足，两者结合应用是诊断染色体不平衡易位更为经济和高效的方法，具有临床应用价值。Objective 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. Methods Genomic DNA was extracted with standard procedures. All cases were analyzed by array-CGH and suhtelomeric MLPA. Results All o~ 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. Conclusion 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.

关 键 词：微阵列比较基因组杂交 多重连接依赖探针扩增 染色体不平衡易位 

分 类 号：R596[医药卫生—内科学]