Chen Ying, Mao Jun, Kwok Ka Yin, Kan Hui-juan, Cheng Hong-bo, Li Hai-bo, Liu Min-juan, Sun Ying, Yan Wen-hua, Li Hong, Choy Kwong Wai
Center for Reproduction and Genetics, Nanjing Medical University Affiliated Suzhou Hospital, Suzhou, Jiangsu, P.R. China.
Zhonghua Yi Xue Yi Chuan Xue Za Zhi. 2010 Oct;27(5):571-5. doi: 10.3760/cma.j.issn.1003-9406.2010.05.021.
To establish an assay for screening chromosome 22q11 microdeletion efficiently, and apply it for detecting del22q11 in patients with non-syndromic congenital heart defects (CHD).
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).
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).
The QF-PCR assay developed in this study was a reliable and an efficient alterative approach to screen for 22q11 microdeletion in clinical diagnosis and genetic counseling.
建立一种高效筛查22q11染色体微缺失的检测方法，并将其应用于检测非综合征型先天性心脏病（CHD）患者的22q11缺失。
采用定量荧光聚合酶链反应（QF-PCR）对79例非综合征型CHD患者和84例正常对照进行位于22q11区域的8个短串联重复序列（STR）标记的基因分型。
患者和对照中STR标记的平均杂合度分别为0.76和0.79。在79例CHD病例中有1例法洛四联症（TOF）患者（1.3%）被发现22q11.2染色体存在缺失，经多重连接依赖探针扩增（MLPA）证实。
本研究建立的QF-PCR检测方法是临床诊断和遗传咨询中筛查22q11微缺失的一种可靠且高效的替代方法。
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