The invention belongs to the technical field of establishment of CNVs pathogenic mechanism models, and discloses a
molecular mechanism of CNVs
mutation and an establishment method of a CNVs pathogenic mechanism model.Deafness predeaf people CNVs are taken as an
entry point, common CNVs in Chinese people with normal hearing are combined, and through establishment of researched deafness
gene CNVs characteristics,
mutation mechanism and pathogenic mechanism models, the
molecular mechanism of CNVs
mutation and the establishment method of the CNVs pathogenic mechanism model are established. The important function and significance of the
copy number variation in hereditary
hearing loss are explored, and meanwhile molecular diagnosis and prevention and treatment of the
copy number variation in hereditary
hearing loss are guided. Summarizing hot spot positions, sequences and structural characteristics of the deafness
gene CNVs; the distribution and characteristic difference between pathogenic CNVs and common CNVs polymorphisms is summarized, and molecular diagnosis of CNVs related diseases is guided; and a
molecular mechanism of deafness
gene CNVs mutation and a deafness gene CNVs pathogenic mechanism model are explored.