Aicardi J
Servicio de Neurología Pediátrica y de Enfermedades Metabólicas, Hospital Robert Debré París, Francia.
Rev Neurol. 1999;28(1):1-4.
The recent spectacular development of molecular genetics has considerably amplified the role of genetics in classification and diagnosis, especially in degenerative diseases but also in other conditions such as developmental brain disorders and predisposition to some acquired diseases (e.g. infections and immunological maladies).
The aim of this article is not to review the ever growing list of disorders due to gene abnormalities but to present a few reflections on their consequences and to try to assess their impact on some of the basic concepts in clinical medicine.
The main advantages attributable to the use of molecular genetics are the identification of clinical conditions with different clinical phenomena and due to a single cause and vice versa the existence of clinical conditions in which many different genetic abnormalities can be found. Its main drawbacks derive from its application for establishing nosologic classifications only on the basis of its findings, mainly due to the lack of congruence between phenotype and genotype.
The information from molecular biology should be integrated with that of other sources in a significant profile, which is the intellectual basis of clinical medicine.
分子遗传学最近的惊人发展极大地增强了遗传学在分类和诊断中的作用，特别是在退行性疾病中，也在其他病症中发挥作用，如发育性脑障碍以及对某些后天性疾病（如感染和免疫性疾病）的易感性。
本文的目的不是回顾因基因异常导致的不断增加的疾病清单，而是对其后果进行一些思考，并试图评估它们对临床医学中一些基本概念的影响。
使用分子遗传学的主要优点是能够识别具有不同临床现象但由单一原因引起的临床病症，反之亦然，即存在可发现许多不同基因异常的临床病症。其主要缺点源于仅根据其发现用于建立疾病分类学分类，主要是由于表型和基因型之间缺乏一致性。
分子生物学的信息应与其他来源的信息以重要的方式整合，这是临床医学的智力基础。
