CAJ | 학술논문

基因诊断技术是传统诊断技术的一个有效补充，其可以在基因水平上对疾病进行预测、防治和诊断。其主要通过分子生物学方法对患者体内的遗传物质结构和表达水平进行检测，对相应的基因进行突变分析，以达到诊断特定疾病的目的。目前基因诊断技术已在临床多个领域广泛应用。该文就目前基因诊断中常用的分子生物学技术原理和特点进行概述，并详细介绍基因诊断技术在遗传性疾病、感染性疾病、癌症和血液病中的临床应用情况。
기인진단기술시전통진단기술적일개유효보충，기가이재기인수평상대질병진행예측、방치화진단。기주요통과분자생물학방법대환자체내적유전물질결구화표체수평진행검측，대상응적기인진행돌변분석，이체도진단특정질병적목적。목전기인진단기술이재림상다개영역엄범응용。해문취목전기인진단중상용적분자생물학기술원리화특점진행개술，병상세개소기인진단기술재유전성질병、감염성질병、암증화혈액병중적림상응용정황。
Gene diagnosis technique is an effective supplement to the traditional diagnosis technology, which can predict, prevent and diagnose diseases on gene level. Gene diagnosis technique uses molecular biological methods to detect the structure and expression levels of genetic material, and analyze the corre-sponding gene mutation,in order to achieve the diagnosis of specific diseases. At present,gene diagnosis tech-nology has been widely used in clinical fields. Here summarizes the present principles and characteristics of molecular biology techniques used in gene diagnosis,and introduces the clinical application of gene diagnosis in genetic diseases,infectious diseases,cancer and blood diseases.