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先天性代谢病除了极少数病种在早期可用饮食控制(例如苯丙酮尿症,PKU)、药物治疗(例如肝豆状核变性)和骨髓移植控制(例如某些免疫缺陷)外,绝大多数迄今尚无有效的治疗方法,而基因治疗目前尚处于实验研究阶段.因此,开展先天性代谢病产前诊断是重要的预防措施.1 基因诊断基因诊断又称DNA 诊断或分析,是在DNA 分子水平上对待测某特定基因进行分析,从而对有关的遗传病作出诊断.常用的产前基因诊断技术有点杂交、限制性内切酶酶谱分析(例如诊断α-地中海贫血)、
In addition to a very small number of diseases that are predominantly available for diet control (eg, phenylketonuria, PKU), drug therapy (eg, hepatolenticular degeneration) and bone marrow transplant control (eg, certain immunodeficiency) in very few patients, the vast majority So far there is no effective treatment, and gene therapy is still in the experimental phase, therefore, to carry out prenatal diagnosis of congenital metabolic disease is an important preventive measure.1 gene diagnosis gene diagnosis, also known as DNA diagnosis or analysis, in the DNA molecule Level analysis of a particular gene to be tested in order to make a diagnosis of the related genetic disease Commonly used techniques of prenatal genetic diagnosis are somewhat hybridized with restriction enzyme zymography (eg diagnosis of alpha-thalassemia)