Epidemiological studies on mtDNA 12S rRNA A1555G mutation of 10 non syndromic hearing loss families in Yunnan province / 临床耳鼻咽喉头颈外科杂志

ABSTRACT

OBJECTIVE@#To investigate the meaning of the mutation screening, prevalence, inheritance and the intervention or the prevention for the specific drugs in 10 families with non-syndrome hearing loss in Yunnan Province, China.@*METHOD@#To do a questionnaire about the cases of ten families with non-syndrome hearing loss and to draw a detailed matriarchal family tree detailed. Following that, the A1555G mutation-positive individuals were detected and confirmed using DNA extracting, PCR amplification and sequencing for family volunteer.@*RESULT@#There are 96 members have attended the blood collection in these ten families. Thirty-six of them had the normal hearing and 60 of them had the sensory neural hearing loss. However, 4 out of those had no A1555G point mutation, and 92 had A1555G point mutation (95.8%). While 7 of those were Heterogeneity, the rest were all homogeneous mutation. There were also 73 patients who had amino glycoside antibiotic medication history. However all the rest cases had a history of amino glycoside antibiotic medication were not clear yet.@*CONCLUSION@#The proportion of patients with drug-induced deafness is high in Yunnan province and the mutation rate of mitochondrial DNA A1555G is also high. It is worthy to do DNA 12SrRNA A1555G mutation screening for drug intervention and prevention.