摘要
目的探讨多重连接依赖探针扩增(MLPA)技术在非平衡性染色体结构异常诊断中的应用价值。方法采用染色体非整倍体及亚端粒区MLPA技术,检测6例核型分析诊断为非平衡性染色体结构异常的标本。结果 6例病例经MLPA分析,均检出染色体相应区域探针信号异常,非平衡性染色体结构异常均涉及亚端粒区。结论 MLPA技术,特别是亚端粒MLPA技术在非平衡性染色体结构异常诊断中具有重要价值,可以为细胞遗传学诊断提供补充。
Objective To valuate the applicability of multiplex ligation‐dependent probe amplication （MLPA ） for detection of chromosomal unbalance .Methods Aneuploid and subtelomeric MLPA technology were used to analyze 6 samples with chromosom‐al unbalances ,confirmed by karyotype analysis .Results All samples were identified to have abnormal signal of corresponding probes .The extent of unbalances contained subtelomeric region .Conclusion MLPA technology could have important role in diag‐nosis of chromosomal unbalance ,which could complement conventional karyotype analysis .
出处
《国际检验医学杂志》
CAS
2015年第10期1336-1337,1340,共3页
International Journal of Laboratory Medicine
基金
广东省东莞市卫生局重点课题(2012105102003)
