Small K W
Department of Ophthalmology, University of Florida College of Medicine, Gainesville.
J Fla Med Assoc. 1994 Apr;81(4):264-7.
With the new advances in molecular genetic technologies and methods has come great progress in mapping disease-causing genes. Many of these methods using polymerase chain reaction have made gene mapping much more efficient and effective. Herein is a brief review of some of the most recent advances in mapping genes causing eye diseases. Despite the technological advances, none of this progress would have been made had not the families been available for studies. Therefore, the clinician is the cornerstone of, essentially, all molecular genetic studies and it is imperative for the clinician to be aware of these diseases and the importance of ascertaining families with these disorders to continue such progress.
随着分子遗传技术和方法的新进展,在绘制致病基因图谱方面取得了巨大进步。许多使用聚合酶链反应的方法使基因图谱绘制更加高效和有效。本文简要回顾了绘制导致眼部疾病的基因图谱的一些最新进展。尽管有技术进步,但如果没有可供研究的家系,这些进展都无法取得。因此,临床医生本质上是所有分子遗传学研究的基石,临床医生必须了解这些疾病以及确定患有这些疾病的家系对于持续取得此类进展的重要性。