Int J Gynaecol Obstet. 1995 Oct;51(1):75-85.
Molecular techniques are now clinically useful for genetic diagnosis, and obstetrician-gynecologists should become familiar with their basic principles. Southern blot analysis and PCR are two of the most commonly used techniques to detect gene deletions and RFLPs. Analysis of RFLPs is perhaps the most widely applicable technique, but detailed family studies are required to determine whether an RFLP is informative.
分子技术目前在临床遗传诊断中很有用,妇产科医生应熟悉其基本原理。Southern印迹分析和聚合酶链反应(PCR)是检测基因缺失和限制性片段长度多态性(RFLP)最常用的两种技术。RFLP分析可能是应用最广泛的技术,但需要进行详细的家系研究来确定某个RFLP是否具有信息价值。