Ma Weikang, Irving Thomas C
BioCAT, Dept. of Biological Sciences, Illinois Institute of Technology;
J Vis Exp. 2019 Jul 18(149). doi: 10.3791/59559.
Transgenic mouse models have been important tools for studying the relationship of genotype to phenotype for human diseases including those of skeletal muscle. Mouse skeletal muscle has been shown to produce high quality X-ray diffraction patterns on third generation synchrotron beamlines providing an opportunity to link changes at the level of the genotype to functional phenotypes in health and disease by determining the structural consequences of genetic changes. We present detailed protocols for preparation of specimens, collecting the X-ray patterns and extracting relevant structural parameters from the X-ray patterns that may help guide experimenters wishing to perform such experiments for themselves.
转基因小鼠模型一直是研究人类疾病（包括骨骼肌疾病）基因型与表型关系的重要工具。已证明小鼠骨骼肌在第三代同步加速器光束线上能产生高质量的X射线衍射图，这为通过确定基因变化的结构后果，将健康和疾病状态下基因型水平的变化与功能表型联系起来提供了机会。我们提供了详细的样本制备方案、X射线图采集方案以及从X射线图中提取相关结构参数的方案，这些方案可能有助于指导希望自行开展此类实验的实验人员。
