Analysis of the results of 22 deafness gene mutation test

Objective To explore the characteristics of deafness gene carrying preliminary. Methods 69 subjects were enrolled, including deafness patients, health subjects who had deaf family members, and health subjects who did not have deaf family members, from March 1 to March 31 in 2018. 159 deafness genes locus sequencing in 22 genes were performed in all subjects, and hearing status questionnaires were recorded. Results The pathogenic genes detected in 69 subjects were GJB2, MT-RNR1, and SLC26A4. The positive rate in deaf patients was 33.3% (16/48), the positive rate in health subjects who had deaf family members was 53.8% (7/13), and the positive rate in health subjects who did not have deaf family members was 0% (0/8). There was statistically significant difference in the positive rate between the health subjects who had deaf family members and the health subjects who did not have deaf family members (P<0.05). Conclusions In the deafness associated with genetic mutations, the main causative genes in deafness are GJB2, MT-RNR1, and SLC26A4. People with deaf family members in the immediate or three generations of collateral relatives have a higher probability of carrying deafness genes, and should be recommended for deafness gene testing during the counseling. If the screening test is negative, people who have deaf family members should perform the full sequence detection of the deafness gene. Key words: Deafness; Genetic testing; Family history