Analysis Of The 12SrRNA Mutations In Patients With Nonsyndromic Hearing Impairment In Xinjiang Area

Objective:To analyse the territorial and clinical characteristics of 12 SrRNA mutations in different ethnic groups,875 participants with or without non-syndromic hearing impairment(NSHI)were enrolled in this investigation between June 2012 and June 2016.Methods : By collecting the personal details and clinical data(such as medical history,degrees of hearing loss,age,ethnicity,residence etc.)of the NSHI participants and comparing those with the matrilineal descents whose hearing are normal.Despite of audiological assessments,every participants did the Sanger sequencing of 12 SrRNA.Results:875 subjects including 765 NSHI patients and 110 matrilineal descents with normal hearing had received the Sanger Sequencing of 12 SrRNA.This study showed that there were 16 mutations including 4 pathogenic mutations(961DelTinsC?T1095C?C1494T?A1555G)had been detected in all subjects.The relevance ratio of the 4 deaf-causing mutations among different groups,which are divided by age of onset,ethnicity,gender,residence etc.,were obtained.There were 12 pathogenic mutation carriers in Han,almost 5.6 times the positive rate of Uygur with 5 positive ones,P<0.05.But no positive subjects had been found in Hui or Kazak.We detected 14 PMCs in the NSHI patients with different hearing loss.Combining the clinical presentation with the age of hearing loss onset,we speculate that PMCs of12 SrRNA will lose more audition when they suffer the NSHI in younger age.Also we found differences among urban residential proportions between the Han and Uygur.The urban residential group in Uygur was only 1/3 of that in the Han group,P<0.05.But neither Han nor Uygur had significantly different frequency of 12 SrRNA pathogenic mutations between the urban and suburban group.It demonstrated that the urban/suburban area might not be an important factor to impact the distribution of those mutations.Conclusion:In this study,the frequency of deafness associated 12 SrRNA mutations,especially in minorities,was lower than the average level,showing that 12 SrRNA pathogenic mutations may be an important genetic molecular etiology of deafness for Han Chinese in the Xinjiang Uygur Autonomous Region,but it didn't play a major role in Uygur,Hui or Kazak.Benefiting from the better understanding of ototoxic drugs,the incidence of AAID(Aminoglycoside antibiotics induced deafness)reduced.The correlation between the age of onset and the severity of hearing impairment suggested that the earlier the age of onset,the worse the hearing loss.Urban/suburban area of residence might not be an factor to impact the distribution of those mutations.