International Journal of Medicine and Data

Objective To explore the clinical value and genetic counseling value of deafness gene diagnosis in the diagnosis of hereditary deafness. Methods the study samples were selected from January 2021 to December 2021. 100 voluntary gene testers were studied in our hospital, and genetic counseling was provided to count the test results. Results 23 patients carried gene mutations, 1 GJB2 - 167delt homozygous mutation, 8 compound heterozygous mutations and 2 double heterozygous mutations. 12 cases of heterozygous mutation. Conclusion the implementation of deafness gene detection in the diagnosis of hereditary deafness can clarify the mutation type and the occurrence probability of deafness in offspring, and provide reference for subsequent marriage and childbirth, which has important clinical value.

Hereditary deafness; Gene testing; Prenatal testing; Genetic counseling; Gene mutation