微滴数字PCR技术检测先天性心脏病患儿染色体22q11．2区段微缺失

Identification of 22q11.2 microdeletion among patients with congenital heart diseases using droplet digital PCR

目的探索一种检测22qii．2微缺失综合征的新方法。方法针对22q11．2微缺失综合征特异缺失区内的TBX1基因和内参基因RPP30设计引物和探针，采用微滴数字PCR（dropletdigitalPCR，ddPCR）的方法计算TBX1／RPP30的比值，检测22q11．2区段微缺失。结果通过数字PCR方法计算TBX1／尺PP30的比值检测22q11．2微缺失综合征，检出3例微阵列比较基因组杂交检测结果为22q11．2微缺失综合征阳性的样本。在14例临床诊断为先天性心脏病的患儿中检测出2例22q11．2微缺失阳性样本。结论微滴数字PCR可以准确检测出22q11．2区段微缺失，可提供一种快速、经济的检测先天性心脏病相关染色体22q11．2微缺失综合征的方法。

Objective To develop a new method for detecting 22@1.2 deletion syndrome （22@1.2 DS） in clinical settings. Methods Specific primers and fluorescence probes were designed to target the TBX1 gene within the 22q11.2 deletion region and a reference gene RPP30. Multiplexed droplet digital PCR （ddPCR） was run to detect the 22@1.2 microdeletion by calculating the ratio of positive droplet number of TBX1/RPP30. Results Three cases of 22q11. 2 microdeletion previously confirmed by array comparative genome hybridization were successfully identified. Subsequently, the ddPCR detected two further cases of 22q11.2 microdeletion among 14 children with congenital heart diseases. Conclusion The ddPCR technique has provided a rapid and cost-effective method for detecting 22q11.2 microdeletion in clinical settings.