A potential relationship among beta-defensins haplotype, SOX7 duplication and cardiac defects. Homo sapiens

To determine the pathogenesis of a patient born with congenital heart defects, who had appeared normal in prenatal screening. Overall design: In routine prenatal screening, G-banding was performed to analyse the karyotypes of the family and fluorescence in situ hybridization was used to investigate the 22q11.2 deletion in the fetus. After birth, the child was found to be suffering from heart defects by transthoracic echocardiography. In the following study, sequencing was used to search for potential mutations in pivotal genes. SNP-array was employed for fine mapping of the aberrant region and quantitative real-time PCR was used to confirm the results. Furthermore, other patients with a similar phenotype were screened for the same genetic variations. To compare with a control, these variations were also assessed in the general population.

本研究旨在明确一名产前筛查结果正常、却罹患先天性心脏病的患儿的发病机制。
实验设计概况：在常规产前筛查中，采用G显带（G-banding）技术对该患儿及其家庭成员的核型进行分析，并通过荧光原位杂交（fluorescence in situ hybridization）检测胎儿的22q11.2缺失情况。患儿出生后，经胸超声心动图（transthoracic echocardiography）检查确诊其存在心脏缺损。后续研究中，通过测序技术筛选关键基因中的潜在突变；采用SNP芯片（SNP-array）对异常区域进行精细定位，并通过实时定量聚合酶链式反应（quantitative real-time PCR）验证上述检测结果。此外，本研究还对表型相似的其他患者开展了相同遗传变异的筛查，并将这些变异在普通人群中进行检测以作为对照。