Analysis of common mutations of deafness-related genes in Zhoushan newborns / 预防医学

ABSTRACT

Objective@#To learn the mutation types and hearing screening results in local newborns of Zhoushan,in order to provide evidence for prevention and early detection of deafness.@*Methods@#The newborns in Zhoushan Maternal and Child Health Hospital from August 2015 to May 2018 were recruited and detected by matrix-assisted laser desorption ionization time of flight mass spectrometry（MALDI-TOF-MS）for twenty-two mutation sites of GJB2,SLC26A,GJB3 and 12SrRNA genes. The results of genotyping and hearing screening were analyzed and the hearing condition of abnormal newborns was followed up. @*Results@# Among 4 029 newborns,180（4.47%）newborns were identified to carry mutations,including 94 males（4.66%）and 86 females （4.28%）. There was no statistically significant difference in the rate of carrying mutations between male and female infants （P>0.05）. Totally 135 （3.35%）newborns failed in primary hearing screening,13（9.63%）of whom carried the deafness genes;3 894（96.65%）newborns passed,167（4.29%）of whom carried the deafness gene. There was statistically significant difference in the the rate of carrying mutations between newborns who passed and failed in primary hearing screening （P<0.05）. Eleven newborns were diagnosed with hearing loss,with a rate of 2.73‰. Among 180 mutations identified,there were 91 GJB2 mutations（2.26%）,57 SLC26A4 mutations（1.41%）,14 GJB3 mutations （0.35%）,15 mtDNA 12SrRNA mutations （0.37%）and 3 with mutations of two genes （0.07%）. Sixteen mutation sites （184 cases）were found,and the detection rate was 4.57%. @*Conclusion@#The rate of carrying deafness genes in Zhoushan newborns was 4.47%. The deafness genes found were mainly GJB2 and SLC26A4,the carrying rate of mtDNA 12SrRNA gene mutation was also high.