先天性心脏病患儿22q11微缺失的定量荧光聚合酶链反应检测

22qll microdeletion test in patients with congenital heart defects by quantitative fluorescent PCR

目的建立对22q11染色体微缺失进行快速批量检测的技术，用于非综合征先天性心脏病患者染色体微缺失情况的检测。方法采用定量荧光聚合酶链反应（quantitative fluorescent polymerase chain reaction，QF-PCR）法和8个短串联重复（short tandem repeat，STR）多态标记对79例中国汉族非综合征先天性心脏病（congenital heart defects，CHD）患者和84名正常对照者进行染色体22q11微缺失的检测。结果缺失区域的STR标记在受检的非综合征型先天性心脏病患者中的平均杂合率为0．76，在正常对照人群中为0．79。在受检的1例法洛氏四联症患儿中检测到22q11微缺失（1．3％），经多重连接依赖探针扩增（multiplex ligation-dependent probe amplification，MLPA）技术验证结果正确。结论采用QFPCR法，可以高效批量地对22q11染色体微缺失进行筛查。

Objective To establish an assay for screening chromosome 22q11 microdeletion efficiently, and apply it for detecting de122q11 in patients with non-syndromic congenital heart defects （CHD）. Methods Seventy nine patients with non-syndromic CHD and 84 normal controls were genotyped for 8 short tandem repeat （STR） markers located in 22q11 region, by using quantitative fluorescence polymerase chain reaction （QF-PCR）. Results The average heterozygosity of the STR markers in patients and controls was 0.76 and 0. 79, respectively. One patient with Tetralogy of Fallot （TOF） from the 79 CHD cases （1. 3%） was found to have a deletion within chromosome 22q11. 2, which was confirmed by multiplex ligation-dependent probe amplification （MLPA）. Conclusion The QFPCR assay developed in this study was a reliable and an efficient alterative approach to screen for 22q11 microdeletion in clinical diagnosis and genetic counseling.