Analysis of common mutations of deafness-related genes in Zhoushan newborns
10.19485/j.cnki.issn2096-5087.2019.12.006
- VernacularTitle:舟山市新生儿常见耳聋基因检测结果分析
- Author:
Haiyan WANG
1
;
Xianer YAO
;
Miaojun HU
;
Xiangyun HU
;
Yuxin TANG
;
Kaiting HONG
;
Liang ZHAO
Author Information
1. Zhoushan Maternal and Child Health Hospital
- Publication Type:Journal Article
- Keywords:
Newborns,Hearing screening,Deafness gene,Mutation sites
- From:
Journal of Preventive Medicine
2019;31(12):1215-1219
- CountryChina
- Language:Chinese
-
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.
- Full text:舟山市新生儿常见耳聋基因检测结果分析.pdf