Analysis of genetic test results of common deafness in 128 cases of sensorineural deafness in Jianghuai region

Objective To analyze the mutation characteristics of common pathogenic genes of sensorineural deafness in Jianghuai area, and to provide reference for clinical and research on prevention and treatment of deafness. Methods A total of 128 patients with extremely severe sensorineural hearing loss were included in the department of otolaryngology, head and neck surgery of the First affiliated hospital of Bengbu medical college from January 2015 to June 2018. After relevant examinations including audiology examination (otoacoustic emission examination), otoacoustic emission examination failed, and the patient continued to conduct acoustic conduction resistance, multi-frequency homeostasis, brainstem evoked potential and other related examinations, to judge that the degree of hearing loss of the patient reached extremely severe sensorineural hearing loss, and the final diagnosis was confirmed. Peripheral blood was collected from patients diagnosed with sensorineural hearing loss, and 9 common mutation sites of 4 common deafness genes (GJB2, GJB3, SLC26A4, mitochondria 12S rRNA) were detected by genetic deafness gene chip kit. Results A total of 128 cases of patients were detected, and the comprehensive common gene mutations in 47 cases of deafness patients, accounted for 36.72%, including a total of 21 cases of GJB2 gene mutations, accounted for 16.40% (21/128), the positive rate was 44.68% (21/47), SLC26A4 gene mutations, a total of 15 cases, accounting for 11.72% (15/128), the positive rate of 31.91% (15/47), mitochondrial 12S rRNA gene mutations in 9 cases, accounting for 7.03% (9/128), and the positive rate was 19.15% (9/47). Single gene GJB3 mutation has not been detected. GJB3 heterozygous gene mutation + mitochondrial 12SrRNA homozygous mutation in 1 case (1/128, 0.78%), positive rate was 2.13%(1/47), GJB2 heterozygous mutation + SLC26A4 (216A>G) heterozygous mutation in 1 case (1/128) 0.78%, and positive rate (1/47) 2.13%. Conclusion The gene mutation of sensorineural deafness patients in Jianghuai area is mainly GJB2 gene, followed by SLC26A4 gene and mitochondrial 12SrRNA gene. The gene chip can be used to screen deafness in clinic and provide basis for clinical diagnosis.