CAJ | 학술논문

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。
목적：탐토다중련접의뢰탐침확증（MLPA）기술재비평형성염색체결구이상진단중적응용개치。방법채용염색체비정배체급아단립구MLPA기술，검측6례핵형분석진단위비평형성염색체결구이상적표본。결과6례병례경MLPA분석，균검출염색체상응구역탐침신호이상，비평형성염색체결구이상균섭급아단립구。결론 MLPA기술，특별시아단립MLPA기술재비평형성염색체결구이상진단중구유중요개치，가이위세포유전학진단제공보충。
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 .