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不久以前,揭示大多数神经系统疾病的分子遗传学机制,仍被看作似乎是一件遥远的事。而现在,分子生物学技术的应用[显示限制性片段长度多态性(RFLPS)的DNA探针与连锁分析],已把几种该类疾病的基因,在染色体上定位。此外,更为精细的细胞遗传学方法,已使与某些该类疾病有关的染色体畸变(缺失、易位或重复)得到识别。另外,几种常染色体隐性的溶酶体贮积症的异常基因,现在已被克隆。本文将综述几种受到这些最新发现而促进神经系统疾病研究的进展。
Not long ago, the molecular genetic mechanisms that revealed most of the neurological disorders were still seen as a distant matter. Now, the application of molecular biology techniques [DNA probes and linkage analysis showing restriction fragment length polymorphism (RFLPS)] has put several genes for this disease on chromosomes. In addition, finer cytogenetic approaches have identified chromosomal aberrations (deletions, translocations, or duplications) associated with some of these diseases. In addition, several autosomal recessive lysosomal storage disease abnormal genes have now been cloned. This article reviews several advances that have been made in these recent discoveries to promote neurological disease.