摘要
目的分析陕西省宝鸡地区新生儿常见遗传性耳聋基因突变情况,为遗传性耳聋患者的临床治疗提供参考依据。方法选取2021年1月至2023年4月在陕西宝鸡市妇幼保健院出生的1985例新生儿作为研究对象,采用微阵列芯片杂交法检测4种遗传性耳聋基因(GJB2、GJB3、SLC26A4和线粒体mt DNA 12S rRNA)15个位点,将耳聋基因检测结果进行统计分析。同时将陕西宝鸡地区新生儿耳聋基因突变情况与国内其他地区进行比较。结果1985例新生儿中检出耳聋基因突变108例(5.44%)其中GJB2携带率最高,为2.67%,SLC26A4携带率为2.02%,GJB3携带率为0.40%,线粒体mt DNA 12S rRNA携带率为0.35%;以GJB2(c.235 del C)突变率(1.86%)最高,其次为SLC26A4(c.IVS7-2 A>G)突变率(1.56%)。与国内其他地区比较,陕西宝鸡地区除线粒体mt DNA 12S rRNA(m.1555 A>G)突变率无差异外,GJB2(c.235 del C)、GJB3(c.538 C>T)、SLC26A4(c.IVS-27-2A>G)突变率均有差异。结论陕西宝鸡地区新生儿携带的耳聋基因突变以GJB2为主,该研究有助于及早查明该地区新生儿听力损失的病因,从而对遗传性耳聋患者进行早期干预。
Objective To analyze the common genetic deafness gene mutations in newborns in Baoji area of Shaanxi Province,so as to provide reference for the clinical treatment of patients with hereditary deafness.Methods A total of 1985 newborns born in Maternal and Child Health Hospital of Baoji from January 2021 to April 2023 were selected as the research objects.Microarray chip hybridization was used to detect 15 loci of four hereditary deafness genes(GJB2,GJB3,SLC26A4 and mitochondrial mt DNA 12S rRNA),and the results of deafness gene detection were statistically analyzed.At the same time,the incidence of deafness gene mutations in Baoji area of Shaanxi province was compared with other areas of China.Results Among the 1985 newborns,108 cases(5.44%)were detected with deafness gene mutations,among which GJB2 carrying rate was the highest(2.67%),SLC26A4 carrying rate was 2.02%,GJB3 carrying rate was 0.40%,and mitochondrial mt DNA 12S rRNA carrying rate was 0.35%.GJB2(c.235 del C)had the highest mutation rate(1.86%),followed by SLC26A4(c.IVS7-2 A>G)(1.56%).There was no significant difference in the mutation rate of mitochondrial mt DNA 12S rRNA(m.1555 A>G)between Baoji area and other areas in China,and the mitochondrial GJB2(c.235 del C),GJB3(c.538 C>T)and SLC26A4(c.IVS-27-2A>G)mutation rates are different.Conclusion GJB2 is the main deafness gene mutation carried by newborns in Baoji,Shaanxi province.This study is helpful to find out the cause of neonatal hearing loss in this area as early as possible,so as to carry out early intervention for patients with hereditary deafness.
作者
伊静
贾雨薇
马文兵
YI Jing;JIA Yuwei;MA Wenbing(Genetic Eugenics Laboratory,Maternal and Child Health Hospital of Baoji,Baoji,Shaanxi 721000,China;Department of Pharmacy,the First Affiliated Hospital of Xi′an Jiaotong University,Xi′an,Shaanxi 710061,China)
出处
《检验医学与临床》
CAS
2024年第22期3393-3397,3401,共6页
Laboratory Medicine and Clinic
基金
陕西省重点研发计划项目(2024SF-YBXM-111)
陕西省药学会医院药学高质量发展研究项目(XM-2023-1-2-7)。
