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.
王海燕, 姚贤儿, 胡妙君, 胡湘云, 唐禹馨, 洪开听, 赵樑. 舟山市新生儿常见耳聋基因检测结果分析[J]. 预防医学, 2019, 31(12): 1215-1219.
WANG Hai-yan, YAO Xian-er, HU Miao-jun, HU Xiang-yun, TANG Yu-xin, HONG Kai-ting, ZHAO Liang. Analysis of common mutations of deafness-related genes in Zhoushan newborns. Preventive Medicine, 2019, 31(12): 1215-1219.
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