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近年来,由于重组DNA技术在医学科学中的应用,使遗传病的诊断从表型水平、蛋白质水平及染色体水平跨入了核酸水平,从而形成了基因诊断的新领域。基因诊断是通过对受检者的基因组DNA进行直接分析来测定特定基因的结构是否正常,从而判断该个体是否具有某种致病基因,以达到对遗传病进行诊断的目的。这一领域的兴起,使遗传病有了更直接的和更有效的诊断手段,同时也使整个临床诊断学面临了一场新的革命。
In recent years, due to the application of recombinant DNA technology in medical science, the diagnosis of genetic diseases has entered the nucleic acid level from phenotypic level, protein level and chromosome level, thus forming a new field of genetic diagnosis. Gene diagnosis is through the direct analysis of the subject’s genomic DNA to determine whether the structure of a particular gene is normal to determine whether the individual has a pathogenic gene in order to achieve the purpose of diagnosis of genetic diseases. The rise of this field, genetic disease has a more direct and more effective diagnostic tools, but also for the entire clinical diagnosis is facing a new revolution.