临床样本DNA自动测序结果的判读

The interpretation of the result of direct sequencing during the clinical sample test

自动测序技术向临床医学方向转化,使测序结果电泳图的正确判读成为临床分子病理学家、肿瘤学家及临床研究者十分重要的技能之一。本文总结了自动测序结果图中单位点杂峰、杂合子、纯合子及长片段杂峰序列,以及缺失与插入所致框移等的特点和正确判读方法,并就其发生原理、注意事项及处理方法等作一探讨。另外,结合临床实践对DNA测序的报告内容提出了相应的要求。

The translation of the automatic DNA sequencing to the clinical use makes the correct reading of the sequencing electrophoretogram becoming a very important skill for clinical molecular pathologists, oncologists and other clinical researchers. This article described the character of single heterozygous mutation peaks of heterozygote, single peaks of homozygote and long heterozygous sequences which were caused by the frame-shift of bases deletion and insertion, and also gave an adviee for correct reeognizatinn of them. We also discussed the principle of their appearance, and the note and the methods of removing them. At the same time, some requirement were appealed for the report form considering the clinical practice.