Brown K S
Laboratory of Development Biology and Anomalies, National Institute of Dental Research, Bethesda, Md.
Pathol Immunopathol Res. 1988;7(1-2):55-61. doi: 10.1159/000157094.
Several monogenic mutants in mice result in chondrodysplastic dwarfism. Although they have been studied by different protocols so that the data are not strictly comparable, they represent a spectrum of genetic defects of chondrogenesis that produce chondrodysplasias in mice and, by homology, in man. Because tissues and cells of mice are available for experimental study and the genetics of mice is under experimental control, these mutants can be employed to investigate the biochemical and physiological processes that are disrupted by specific mutations. The systematic study of these disturbed developmental and biochemical pathways will increase our understanding of chondrogenesis and chondrodysplasia as similar studies have done for intermediary metabolism.
小鼠中的几种单基因突变会导致软骨发育不良性侏儒症。尽管它们是通过不同的方案进行研究的,因此数据并非严格可比,但它们代表了软骨生成的一系列遗传缺陷,这些缺陷在小鼠中会导致软骨发育不良,并且通过同源性,在人类中也会导致软骨发育不良。由于小鼠的组织和细胞可用于实验研究,并且小鼠的遗传学处于实验控制之下,因此这些突变体可用于研究因特定突变而被破坏的生化和生理过程。对这些受干扰的发育和生化途径进行系统研究,将增进我们对软骨生成和软骨发育不良的理解,正如类似研究对中间代谢所做的那样。