Klinger K W, Landes G, Schwartz R H, Doherty R, Lerner T, Watkins P
Integrated Genetics, Framingham, Massachusetts 01701.
Biochem Soc Symp. 1987;53:145-54.
Cystic fibrosis (CF) is the most common lethal genetic disease of white populations. The underlying biochemical defect remains unknown, but recently polymorphic DNA markers linked to the cystic fibrosis gene have been discovered. These markers provide useful tools both for antenatal diagnosis and carrier detection, and for isolating the cystic fibrosis gene. In this paper we present data summarizing the results of retrospective and prospective antenatal series as well as a report on molecular approaches to isolation of the cystic fibrosis gene.
囊性纤维化（CF）是白种人群中最常见的致死性遗传病。其潜在的生化缺陷尚不清楚，但最近已发现与囊性纤维化基因相关的多态性DNA标记。这些标记为产前诊断和携带者检测以及分离囊性纤维化基因提供了有用的工具。在本文中，我们展示了总结回顾性和前瞻性产前系列结果的数据，以及一份关于分离囊性纤维化基因的分子方法的报告。
