摘要
目的了解深圳地区新生儿先天性耳聋基因突变携带率及基因突变类型,为本地区开展大规模耳聋基因筛查提供科学依据。方法采集2016年8月～2018年3月在深圳市龙华区人民医院妇产中心出生的4305名新生儿足跟血,采用基质辅助激光解吸附电离飞行时间质谱技术(MatrixAssistedLaserDesorption/ionizationTime-of-flightMass Spectrometry,MALDI-TOF-MS)对GJB2、SLC26A4、GJB3和线粒体12SrRNA等4个常见耳聋基因的20个热点突变位点进行检测,并对结果进行统计分析。结果 4305例新生儿中检出遗传性耳聋基因突变212例,携带率为4.92%(212/4305),其中男性5.72%(119/2081),高于女性的4.18%(93/2224),差异有统计学意义(χ2=3.405,P<0.05)。GJB2基因突变113例,突变率为53.30%(113/212),明显高于SLC26A4的29.25%(62/212)、GJB3的9.91%(21/212)、线粒体12SrRNA的4.25%(9/212)及复合基因位点突变的3.30%(7/212),差异有统计学意义(χ2=2.815-13.026,P<0.05)。其中基因突变位点频率最高的为GJB2基因的235delC杂合突变,突变率为42.92%(91/212),其次为SLC26A4基因的IVS7-2A>G和GJB3基因的547G>A杂合突变,突变率分别为26.42%(56/212)和7.08%(15/212)。复合基因位点突变主要见于GJB2基因突变位点235delC结合其它位点杂合突变。结论深圳地区新生儿有一定遗传性耳聋常见基因突变携带率,且男性高于女性,主要见于GJB2和SLC26A4基因,突变位点以235delC和IVS7-2A>G杂合突变为主。因此,加强新生儿耳聋基因初筛,对及时治疗和预防耳聋具有重要意义。
Objective:To study the genetic mutation carrying rate and gene mutation type of congenital deafness in shenzhen,It provides scientific basis for large-scale genetic screening of deafness in this region.Methods:Collected heel blood of 4305 infants in shenzhen longhua district people’s hospital maternity center born in August 2016 to March 2018,using matrix assisted laser desorption/ionization time-of-flight mass spectrometry of GJB2,SLC26A4,GJB3 and mitochondrial 12 srrna four common deafness gene tested 20 hot spot mutations,and the results were analyzed.Results:Among 4305 newborns,212 cases of genetic deafness gene mutation were detected,carrying rate was 4.92%(212/4305),males was 5.72%(119/2081),higher than females 4.18%(93/2224),the difference was statistically significant(χ2=3.405,P<0.05).113 cases of GJB2 gene mutation were detected,the mutation rate was 53.30%(113/212),significantly higher than the 29.25%(62/212)of SLC26A4,9.91%(21/212)of GJB3,4.25%(9/212)of mitochondrial 12 srrna and 3.30%(7/212)of compound gene locus mutation,the difference was statistically significant(χ2=2.815~2.815,P<0.05).One of the highest frequency of gene mutations in 235 delC of GJB2 hybrid gene mutations,mutation rate was42.92%(91/212),followed by the IVS7-2A>G of SLC26A4 gene and 547G>A of GJB3 gene hybrid gene mutations,The mutation rates were26.42%(56/212)和7.08%(15/212),respectively.The complex gene site mutations are mainly seen in the GJB2 gene mutation site 235 delC binding to other site heterozygous mutations.Conclusion:There is a certain genetic mutation carrying rate of common gene mutation in newborns in shenzhen,and males are higher than females,mainly in GJB2 and SLC26A4 genes,with 235de1 C and ivs7-2A>G heterozygous mutations.Therefore,it is of great significance to strengthen the screening of newborn deafness gene in the timely treatment and prevention of deafness.
作者
方霞
杨贤慧
张慧莲
陈望
FANG Xia;YANG Xian-hui;ZHANG Hui-lian;CHEN Wang(Shenzhen Longhua District People's Hospital,blood transfusion department,Guangdong Province 518109;Shenzhen Longhua District People's Hospital,Laboratory,Guangdong Province 518109;Laboratory of Shenzhen Baoan District Maternal and Child Health Care Hospital,Guangdong Province 518000)
出处
《中国优生与遗传杂志》
2019年第1期63-65,共3页
Chinese Journal of Birth Health & Heredity
关键词
新生儿
先天性耳聋
基因突变
携带率
突变类型
Newborn baby
Congenital deafness
Gene mutation
Carrying rate
Mutation type
