收稿日期: 2019-09-30
修回日期: 2019-11-11
网络出版日期: 2020-05-29
基金资助
1.浙江省医药卫生科技计划项目(2020KY889);2.国家人口与生殖健康科学数据中心项目(2005DKA32408);3.宁波市创新团队项目(2014B82003)
Deafness Gene Mutations in Ningbo: 1781 Newborns Study
Received date: 2019-09-30
Revised date: 2019-11-11
Online published: 2020-05-29
Supported by
Zhejiang Medical and Health Project(2020KY889);National Population and Reproductive Health Science Data Center(Grant)(2005DKA32408);Ningbo Innovation Team(2014B82003)
目的 分析宁波市遗传性耳聋基因的突变类型和频率。方法 2019年1月至9月,对在宁波市妇女儿童医院出生的1781例新生儿进行耳聋基因筛查,包括4个常见基因位点,22个突变热点。结果 共检出耳聋基因突变104例(5.84%),其中男性59例,女性45例。GJB2基因突变率3.31% (59/1781),GJB3基因突变率0.56% (10/1781),mtDNA基因突变率0.39% (7/1781),SLC26A4基因突变率1.57% (28/1781)。结论 宁波新生儿耳聋基因总突变率稍高于全国水平,GJB2基因突变尤为突出,应加强新生儿耳聋基因筛查。
鲍幼维 , 潘小莉 , 潘澍青 , 潘婕文 , 李海波 . 宁波新生儿遗传性耳聋基因突变1781例分析[J]. 中国康复理论与实践, 2020 , 26(5) : 607 -609 . DOI: 10.3969/j.issn.1006-9771.2020.05.023
Objective To analyze the mutation types and frequency of deafness genes in Ningbo newborns.Methods From January to September, 2019, 1781 newborns in Ningbo Women and Children's Hospital accepted deafness gene screening, including 22 mutations of four common deafness genes.Results There were 104 newborns who were found deafness gene mutation (5.84%), 59 boys and 45 girls. Mutation rate was 3. 31% (59/1781) for GJB2, 0.56% (10/1781) for GJB3, 0.39% (7/1781) for mtDNA, and 1.57% (28/1781) for SLC26A4.Conclusion The mutation rate of deafness gene in newborns in Ningbo is higher than the China average level, especially the rate of GJB2. It is necessary to screen newborn deafness gene earlier.
Key words： hereditary hearing loss; newborn; hearing screening; gene mutation
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