微阵列比较基因组杂交检测一例左心发育不良胎儿的基因组拷贝数变异

摘要

目的 检测1例左心发育不良胎儿的基因组拷贝数变异(copy number variations,CNVs),寻找可能的遗传学病因,并探讨微阵列比较基因组杂交(array-based comparative genomic hybridization,array-CGH)在分子细胞遗传学诊断方面的优越性.方法 对胎儿羊水细胞及其父母的外周血细胞进行常规G显带核型分析.用array-CGH芯片对胎儿进行高分辨率全基因组扫描分析,并用多重连接探针扩增技术(multiplex ligation-dependent probe amplification,MLPA)对新发现的CNVs进行验证.结果 胎儿羊水细胞及其父母的外周血细胞常规G显带核型分析未发现显著异常,Array-CGH结果发现胎儿基因组存在两个亚显微结构的拷贝数变异:del(11)(q24.1-ter)(121951443-134449216,-12.50 Mb),dup(15)(q26.3)(96889082-100215359,-3.33 Mb),MLPA结果验证了这两个基因组拷贝数变异的存在.结论 Del(11)(q24.1-ter)很可能是患儿左心发育不良的病因.array-CGH技术具有高分辨率、准确等优点,是临床遗传学的重要技术手段,有助于基因组异常的检测和临床遗传咨询.%Objective To detect the copy number variations (CNVs) of a fetus with hypoplastic left-heart syndrome,and to assess the value of array-based comparative genomic hybridization (array-CGH) for molecular cytogenetic diagnosis.Methods The whole genome of a fetus with normal karyotype by G-banding was scanned and analyzed by array-CGH,and the CNVs was confirmed by multiplex ligation-dependent probe amplification (MLPA). Results Two submicroscopic CNVs [del (11)(q24.1-ter) ( 121951443-134449216,-12.50 Mb),dup(15) (q26.3) (96889082-100215359,-3.33 Mb)] were identified and mapped by array-CGH.MLPA test confirmed both CNVs.Conclusion Del (11) (q24.1-ter) may contribute to hypoplastic left-heart syndrome of the fetus.For its high-resolution and high-accuracy,array-CGH has provided a powerful tool for detection of genomic imbalance.