Clinical analysis and gene detection of family pedigree with non-syndromic hearing loss

Objective:To explore the relationship between clinical phenotype and gene mutation in family pedigree with maternal inheritance aminoglycoside antibiotics induced hearing loss.Methods:The clinical data and blood samples of 6 family pedigrees of different nationalities with maternal inheritance non-syndromic hearing loss in Zunyi,Guizhou were collected,PCR-RFLP and DNA sequencing were used to detect mitochondrial DNA(mtDNA) 1555G,3243G and 7445G mutations,then haplogroups were classified based on the above results.Results:mtDNA 1555G mutation was detected in 4 out of 6 family pedigrees,but mtDNA 3243G mutation and 7445G mutation were not found;6 family pedigrees with maternal inheritance non-syndromic hearing loss belonged to A,D6,D,G,B5a and M* haplogroups,respectively.Conclusion:The incidence of family pedigree with aminoglycoside antibiotics induced hearing loss due to mtDNA 1555G mutation in Zunyi is comparatively high,which indicates that the detection of mtDNA 1555G mutation has a certain clinical application value.