人类遗传病中,最简单的是单基因缺陷病,原则上来说,对于任何一种基因缺陷原因明了的疾病,都可经制备特异性探针的方法加以诊断。对于那些遗传方式提示为单基因病,但其生化本质迄今未明的疾病,就比较困难了,例如囊性纤维变性、Huntington舞蹈病和Duchenne肌营养不良;许多较常见的遗传病就属这一类,而且近来已提出了解决这类问题的一些做法。应用重组DNA技术分离大量基因顺序比较容易、且很纯净;运用这种技术又能在DNA水平上分析基因功能失常。现知除了诸如B淋巴细胞等特殊细胞外,身体每一细胞的DNA都是相同的;因此即使在某种基因并不表达的组织的标本中,也能 The simplest of human genetic diseases are single-gene deficiency diseases. In principle, any disease with a clear reason for genetic defects can be diagnosed by preparing specific probes. Hurtington disease and Duchenne muscular dystrophy are more difficult for those diseases where the genetic mode is suggestive of a single gene disease but its biochemical nature is unknown so far; many of the more common genetic diseases fall into this category , And recently some of them have been put forward to solve such problems. The use of recombinant DNA technology to separate a large number of gene sequences is relatively easy, and very pure; use of this technology and DNA level analysis of gene dysfunction. It is known that except for special cells such as B lymphocytes, the DNA of each cell in the body is the same; therefore, even in specimens of tissues not expressed by a certain gene