中国妇幼健康研究2017，Vol.28Issue(8)：985-987,3.DOI:10.3969/j.issn.1673-5293.2017.08.032
部队新生儿常见遗传性耳聋基因筛查分析
Screening analysis of genetic deafness gene in military neonates
摘要
Abstract
Objective To study the carrier rate and mutation type of deafness susceptibility gene in military neonates and to analyze the difference in mutation rate and type of deafness gene between military and civilian neonates.Methods Nine mutational hotspots in 4 common deafness susceptibility genes including GJB2 (c.35delG, c.235delC, c.176del16, c.299 del AT), SLC26A4 (IVS7-2A>G and c.2168 A>G), GJB3 (c.538C>T), mitochondrial 12S rRNA (m.1494 C>T and m.1555 A>G) were detected in 937 neonates of officers and soldiers using gene chip technology.Results In 937 neonates, 31 cases had deafness gene mutations (3.31%) among which 13 cases had mutations of GJB2 with carrier rate of 1.39% (13/937), including c.176del16 in 2 cases (0.21%), c.235delC in 6 cases (0.64%), c.299 del AT in 5 cases (0.53%) and c.35delG in 0 case.There were 13 cases having mutation of SLC26A4 with carrier rate of 1.39% (13/937) and all were IVS 7-2 A>G.And 2 cases (0.21%) of heterozygous mutations of GJB3 were found.Homozygous mutations of mitochondrial 12S rRNA 1555 A>G were found in 3 cases (0.32%).Conclusion Comparing with civilian neonates, deafness gene mutation type is same but carrier rate is lower in military neonates, which may be attributed to small sample size or better physical quality of armyman.Genetic deafness gene screening is important for early discovery of drug induced deafness and delayed deafness, and it is the focus of tertiary prevention of birth defect deafness.关键词
部队新生儿/耳聋基因/基因芯片/突变类型Key words
military neonates/deafness gene/gene chip/mutation type分类
医药卫生引用本文复制引用
郝冬梅,邹朋书,曹东华,张宁,于月新..部队新生儿常见遗传性耳聋基因筛查分析[J].中国妇幼健康研究,2017,28(8):985-987,3.基金项目
全军医学科技青年培育资助项目(编号:14QNP004) （编号:14QNP004）
