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

VernacularTitle: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
Author: Xiangcheng ZHOU ¹ ; Cuicui ZHANG ; Mi LI ; Jian MA ; Qiuping CHEN ; Shanquan SUN ; Liang ZHANG
Author Information

1. Center of Translational Medicine, Guangdong Women and Children's Hospital, Guangzhou, Guangdong 511400, China. Email: zhangliang1999@tsinghua.org.cn.
Publication Type:Journal Article
From: Chinese Journal of Medical Genetics 2018;35(1):47-50
CountryChina
Language:Chinese
Abstract: OBJECTIVE To develop a new method for detecting 22q11.2 deletion syndrome (22q11.2 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 22q11.2 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.