Mah C S, Vaughan C J, Basson C T
Department of Medicine, Weill Medical College of Cornell University, New York Hospital, NY 10021, USA.
Genet Test. 1999;3(2):157-72. doi: 10.1089/gte.1999.3.157.
Molecular genetic analyses have generated significant advances in our understanding of congenital heart disease. Techniques of genetic mapping with polymorphic microsatellites and fluorescence in situ hybridization (FISH) have provided informative tools for localization and identification of disease genes. Some cardiovascular diseases have proven to result from single gene defects. Others relate to more complex etiologies involving several genes and their interactions. Elucidation of the molecular genetic etiologies of congenital heart disease prompts consideration of DNA testing for cardiac disorders. Future integration of these diagnostic modalities with improved treatments may ultimately decrease morbidity and mortality from congenital heart diseases.
分子遗传学分析在我们对先天性心脏病的理解方面取得了重大进展。利用多态微卫星和荧光原位杂交（FISH）进行基因定位的技术，为疾病基因的定位和识别提供了有用的工具。一些心血管疾病已被证明是由单基因缺陷引起的。其他疾病则与涉及多个基因及其相互作用的更复杂病因有关。对先天性心脏病分子遗传病因的阐明促使人们考虑对心脏疾病进行DNA检测。这些诊断方法与改进治疗方法的未来整合，最终可能降低先天性心脏病的发病率和死亡率。
