Driscoll D A, Emanuel B S, Mitchell L E, Budarf M L
Division of Human Genetics and Molecular Biology, Children's Hospital of Philadelphia, PA 19104, USA.
Genet Test. 1997;1(2):109-13. doi: 10.1089/gte.1997.1.109.
Deletions of 22q11.2 have been detected in the majority of patients with DiGeorge, velocardiofacial, and conotruncal anomaly face syndromes by either cytogenetic analysis, fluorescence in situ hybridization (FISH), or Southern blot hybridization. However, these techniques may not be the most efficient or cost-effective means of screening large numbers of "at-risk" patients. Therefore, we developed a PCR assay to assess a patient's likelihood of having a 22q11.2 deletion based on homozygosity at consecutive markers in the DiGeorge chromosomal region. The sensitivity and specificity of PCR screening were evaluated in a cohort of cardiac patients. We conclude that a PCR-based assay is a reliable and efficient means of identifying which patients are at greatest risk for a 22q11.2 deletion and should have FISH studies to confirm their deletion status.
通过细胞遗传学分析、荧光原位杂交（FISH）或Southern印迹杂交，在大多数患有DiGeorge综合征、腭心面综合征和圆锥动脉干异常面容综合征的患者中检测到22q11.2缺失。然而，这些技术可能不是筛查大量“高危”患者的最有效或最具成本效益的方法。因此，我们开发了一种聚合酶链反应（PCR）检测方法，以根据DiGeorge染色体区域中连续标记的纯合性来评估患者发生22q11.2缺失的可能性。在一组心脏病患者中评估了PCR筛查的敏感性和特异性。我们得出结论，基于PCR的检测方法是一种可靠且有效的手段，可用于识别哪些患者发生22q11.2缺失的风险最高，并且应该进行FISH研究以确认其缺失状态。
