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迄今,人们发现属孟德尔遗传的人类遗传病约有3000多种,但只有很少部分可通过常规的蛋白质分析方法进行产前诊断,而且许多疾病不适合进行产前遗传分析,因为用于诊断的蛋白质并不存在于采样的胎儿组织中。重组DNA技术的发展有希望解决这些难题,这是由于此技术能直接对遗传物质进行研究,不需用特殊的组织样品。而且,不一定需要必须在鉴别疾病原始基因产物或生化机理的条件下,才能进行多种遗传缺陷的产前诊断和检出携带者。目前对一些疾病可以利用克隆基因探针直接分析遗传缺陷。这种直接分析方法最可靠和最适用,
To date, it has been found that there are more than 3000 human genetic diseases that are Mendelian inherited, but only a few are available for prenatal diagnosis by conventional protein analysis methods and many are not suitable for prenatal genetic analysis because diagnosis Of the protein is not present in the sampled fetal tissue. The development of recombinant DNA technology has the hope of solving these problems, because this technology can directly study the genetic material without using special tissue samples. Moreover, it is not always necessary that prenatal diagnosis of multiple genetic defects and detection of carriers be necessary in order to identify the origin of the disease or the biochemical mechanism. At present, genetic defects can be directly analyzed by using cloned gene probes for some diseases. This direct analysis method is the most reliable and most suitable,