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Objective To determine the prevalence and types of mutations in deafness-related genes in Xianyang, providing a theoretical basis and data support for clinical counselling on deafness prevention and treatment. Methods A total of 27 660 newborns born in our hospital between January 2019 and February 2023 were screened for hearing and deafness-related genes using otoacoustic emission, automated auditory brainstem response, polymerase chain reaction (PCR) for detecting 15 mutation sites of the common deafness genes (GJB2, GJB3, SLC26A4 and MT-RNR1), as well as validation through Sanger sequencing for positive samples. Results Among the 27 660 newborns, 1 183(4.27%) were carriers of deafness gene mutations, including 570 (2.06%) of GJB2 gene mutations, 528 (1.91%) of SLC26A4 gene mutations, and 16 (0.06%) of GJB3 gene mutations, and MT-RNR1 gene mutation found in 50 cases (0.18%). There were also compound heterozygous mutation (15 cases, 0.05%) and homozygous mutation (4 cases, 0.01%). Three cases of hearing loss were detected, including two cases with GJB2 c.235delC homozygous mutation and one case with SLC26A4 c. 919- 2 A>G homozygous mutation. Conclusion The high prevalence rate of sensorineural deafness among the newborns in the area is mainly attribute to GJB2 and SLC26A4 gene mutations. Screening for these genetic defects can provide valuable advice to families affected by hearing loss gene, thereby reducing the incidence of hearing loss. [ABSTRACT FROM AUTHOR]

Objective To explore the effect of miR-26a-5p in regulating SLC26A4 to amiliorate hearing loss, and to detect the expression changes of miR-26a-5p and SLC26A4 in deaf mice and hearing loss mice. Methods A mouse hearing loss model and a mouse deafness model were constructed, and the auditory brainstem response test was used to detect the hearing in the right ear of mice to determine whether the models were successfully constructed. qPCR test was used to detect the relative expression of miR-26a-5p and SLC26A4 after hearing loss and deafness in mice were established. The specific site of miR-26a-5p targeting binding to SLC26A4 was predicted at TargetScan website. The interference and overexpression vector of miR-26a-5p and SLC26A4 were injected，, and the expression changes of miR-26a-5p and SLC26A4 were detected. Results After hearing loss and deafness were established, the expression of miR-26a-5p was significantly decreased (P < 0.05), while the expression of SLC26A4 was significantly increased (P < 0.05). After antagomir injection, miR-26a-5p was significantly down-regulated (P = 0.047)，while SLC26A4 was significantly up-regulated (P = 0.014)；and the hearing threshold of mice decreased significantly (P < 0.05)，but the result was just the opposite after injection of miR-26a-5p agomir. Conclusion miR-26a-5p can ameliorate hearing loss through SLC26A4 and thus decelerate the development of deafness. [ABSTRACT FROM AUTHOR]

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Objective: To investigate the occurrence and carrying status of mutant loci related to nonsyndromic sensorineural healing loss in newborns of Heilongjiang province. Methods: Genomic DNAs were isolated from blood specimens obtained from 1036 neonates boms in our hospital between June 2014 and March 2015. the products of 3 deafness-associated genes (GJB2. SLC26A4 and mitochondrial DNA 12SrRNA) were amplified by PC'R and then used for mutation screening by directed sequencing. Results: Among 1036 neonates. 64cases had mutant loci which referred as positive results, the positive rate was6.18%.In these mutation positive neonates. 47cases were found with GJB2 gene mutation. 1 Teases presented SLC26A4 gene mutation. 2 cases were found with 12SrRNA gene mutation. Among 1036 neonates. 63cases had family history. 1 Teases were found with deafness-rated suscepibility genes, the positive rate was 27.0%. Conclusions: GJB2 235 and SLC26A4 IVS7-2 were two typical pathogenic mutant sites in Heilongjiang province. Our results suggested that deafness can be detected by new bom molecular genetic screening. Also, pre pregnancy tests for the parents can help making corresponding intervention measures to prevent or reduce the incidence of deafness. [ABSTRACT FROM AUTHOR]