动物造模,先天性晚发白内障 z-bio 2021-10-09 397

　　Objective: To use the spontaneous mutation-induced congenital late-onset cataract mice as a model to identify genetic methods and analyze the localization of cataract-related genes.

　　Methods: Firstly, the pathological status of cataract was identified by microscopic observation of tissue sections. Secondly, the genetic mode of congenital late cataract in FVB mice was determined by constructing a family. Secondly, the whole genome SNP of 100 F2 generation mice was performed by multiplex PCR targeted sequencing. Scan and locate, and finally use whole exome sequencing to screen out candidate mutant genes.

　　Results: Tissue sections showed that spontaneous mutations caused typical cataract traits. Whole genome scanning showed that the rs4228772SNP locus on chromosome 11 had the highest linkage with the cataract phenotype; the whole exome sequencing results further showed that three genes were produced on chromosome 11 The spontaneous mutations are Sfi1, Obscn and Ptrh2.

　　Conclusion: This study uses a combination of genome-wide SNP scanning linkage analysis and exome sequencing to quickly locate gene mutations in species with known reference genomes. As a result, it was determined that the three mutant genes on chromosome 11 are congenital Candidate genes for late-onset cataracts are inherited in a dominant manner. This strategy can also be applied to the gene function study of other model mammals with clear genetic background.