Genetic traits in children with congenital hearing loss who have received cochlear implants at some hospitals in Hanoi City

Abstract

The objective of this study aims to describe the expression levels of the genes GJB2, SLC26A4, GJB3, MT-RNR1 and searching for some mutations of the MT-RNR1 gene in 30 children with congenital hearing loss. Crosssectional descriptive research methods on 30 children with congenital hearing loss ranging from severe to profound and a number of molecular biology methods were used. The results showed that the expression levels of the GJB2, GJB3, SLC26A4 and MT-RNR1 genes compared to the 18S rRNA control gene ((housekeeping gene) were 40, 43.3, 40 and 46.67%, respectively. On the otherh and 6 variants of the MT-RNR1 gene were detected at positions c.1438A>G, c.1119T>C, c.1048C>T, c.1107T>C, c.1541T>C and c.1005T> C,
however, the variants m.1555A>G, m.1095T>C, m.1494C>T related to aminoglycoside ototoxicity were not detected in our study. This study addresses the expression of four genes GJB2, GJB3, SLC26A4 and MT-RNR1 in children with congenital hearing loss, on which gene expression increases or decreases compared to the 18S rRNA gene that can carry gene mutations. Further studies are needed to better clarify the genetic causes of congenital hearing loss.