| 摘要: |
| ［摘要］ 目的 对广西2016-06～2018-12出生的6 590名新生儿的耳聋基因突变情况进行分析，为新生儿耳聋基因突变防控提供科学依据。方法 选择2016-06～2018-12在广西壮族自治区人民医院产科分娩的新生儿共6 590名取脐带血提取DNA，采用晶芯十五项遗传性耳聋基因突变检测试剂盒接受耳聋基因GJB2、SLC26A4、GJB3和线粒体DNA12SrRNA四个基因的突变位点筛查。结果 共检出耳聋基因突变携带者156名，突变总携带率为2.37%。突变发生率大小排列为GJB2>SLC26A4>线粒体DNA12SrRNA>GJB3，发生率分别占48.72%、34.62%、14.10%和2.56%。男女婴比较基因突变构成比差异无统计学意义（P>0.05）；不同年份基因突变构成比差异无统计学意义（P>0.05）。结论 广西2016～2018年间新生儿耳聋基因突变携带率与既往报道相近，未发现性别、年份基因突变构成比的差别。 |
| 关键词: 新生儿 耳聋基因 突变率 |
| DOI：10.3969/j.issn.1674-3806.2020.09.18 |
| 分类号:R 764.43+2 |
| 基金项目: |
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| Analysis of the occurrence of deafness-associated gene mutation in neonates in Guangxi during 2016 and 2018 |
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ZHANG Chun, ZHANG Ji-hong, LU Zhen-zhen
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Department of Obstetrics, the People′s Hospital of Guangxi Zhuang Autonomous Region, Nanning 530021, China
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| Abstract: |
| ［Abstract］ Objective To analyze the deafness-associated gene mutation of 6590 neonates in Guangxi from June 2016 to December 2018, so as to provide scientific evidence for prevention and control of deafness-associated birth defects of the local newborns. Methods A total of 6 590 neonates delivered in the Department of Obstetrics, the People′s Hospital of Guangxi Zhuang Autonomous Region from June 2016 to December 2018 were selected to extract deoxyribonucleic acid(DNA) from cord blood. The mutation sites of the four deafness genes(GJB2, SLC26A4, GJB3 and mitochondrial DNA12SrRNA) were screened by using the crystal core 15 genetic deafness gene detection kit. Results A total of 156 carriers with deafness gene mutation were detected, and the total mutation rate was 2.37%. The mutation rates from high to low were GJB2>SLC26A4>mitochondrial DNA12SrRNA>GJB3, accounting for 48.72%, 34.62%, 14.10% and 2.56% respectively. There was no statistically significant difference in deafness gene mutation composition ratio between male and female infants(P>0.05). There was no statistically significant difference in the composition ratio of deafness gene mutation among different years(P>0.05). Conclusion The neonatal deafness gene mutation carrying rates in Guangxi during 2016 and 2018 are similar to those in the previous reports. No differences are found in the composition ratios of mutation deafness gene between genders and among different years. |
| Key words: Neonates Deafness genes Mutation rate |
