Trembath R C
Department of Genetics and Medicine, University of Leicester.
J R Coll Physicians Lond. 1994 Mar-Apr;28(2):121-5.
The past five years have witnessed rapid and apparently relentless progress in the delineation of the genetic basis of disorders associated with mental retardation. Each gene discovery has a new story to tell but inevitably generates further questions. For the clinical geneticist and, perhaps more importantly, for patients and their families, many of these recent discoveries have yielded information which has immediate implications for diagnostic testing, family and population screening and prenatal testing. Many of the ethical issues consequent upon the rapid progress are only now being addressed. This article highlights a number of disorders whose molecular genetic basis has recently been further characterised. Brain development and maintenance of neurological networks provide the unifying theme; the genetic defects are disparate and each of their mechanisms appears to be novel.
在过去五年中，与智力迟钝相关疾病的遗传基础研究取得了迅速且似乎持续不断的进展。每一项基因发现都有新的故事可讲，但不可避免地也引发了更多问题。对于临床遗传学家，或许更重要的是，对于患者及其家属而言，许多最新发现所产生的信息对诊断检测、家庭和群体筛查以及产前检测都具有直接影响。随着这一迅速进展而产生的许多伦理问题直到现在才开始得到解决。本文着重介绍了一些最近其分子遗传基础得到进一步明确的疾病。大脑发育和神经网络的维持构成了统一的主题；基因缺陷各不相同，而且每种缺陷的机制似乎都是全新的。
