Flint J, Wilkie A O
Institute of Molecular Medicine, John Radcliffe Hospital, Oxford, UK.
Br Med Bull. 1996 Jul;52(3):453-64. doi: 10.1093/oxfordjournals.bmb.a011559.
We review the advances that have been achieved using molecular genetic techniques to characterise the genetic basis of mental retardation in recognised syndromes and in discovering new genetic conditions that give rise to mental retardation. However, even with the cloning of a number of mutant genes, the pathogenesis of the condition is not understood. The genetics of mental retardation are turning out to be remarkably complex and are likely to remain a challenge for clinicians and scientists for years to come.
我们回顾了利用分子遗传学技术在确定综合征中表征智力迟钝的遗传基础以及发现导致智力迟钝的新遗传状况方面所取得的进展。然而,即使克隆了一些突变基因,该病症的发病机制仍未明了。事实证明,智力迟钝的遗传学极其复杂,在未来数年仍可能是临床医生和科学家面临的一项挑战。