| 韦柳婷,吴秋龙,黄之虎.新生儿 6 698例常见遗传性聋基因筛查结果分析[J].安徽医药,2023,27(7):1422-1426. |
| 新生儿 6 698例常见遗传性聋基因筛查结果分析 |
| Analysis of the results of genetic screening for common hereditary deafness in 6 698 newborns |
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| DOI：10.3969/j.issn.1009-6469.2023.07.033 |
| 中文关键词: 先天性遗传性新生儿疾病和畸形 聋 听觉丧失 耳聋基因 突变位点 民族 |
| 英文关键词: Congenital inherited neonatal diseases and deformities Deafness Hearing loss Deafness gene Mutation site Nationality |
| 基金项目: |
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| 中文摘要: |
| 目的分析南宁地区新生儿常见耳聋基因携带情况和突变类型，探讨汉族与壮族之间的差异。方法采用导流杂交技术对 2017年 8月至 2021年 4月在广西壮族自治区民族医院出生的 6 698例新生儿进行 GJB2、SLC26A4、mt DNA和 GJB3基因的 13个突变位点检测，分析耳聋基因的总体检出率及突变位点的分布情况，对壮汉两民族进行统计分析。结果耳聋基因筛查总阳性 119例，总体检出率为 1.78%，汉族为 2.02%，壮族为 1.63%，差异无统计学意义( P=0.253)。 GJB2基因为主要突变基因，总体检出率为 1.00%，汉族 1.11%，壮族 1.00%，两者差异无统计学意义( P=0.680)。其次是 SLC26A4基因 0.48%，mt DNA 0.27%和GJB3 0.03%，在汉族与壮族间差异无统计学意义( P>0.05)。 c.235 del C是主要突变位点，检出率为 0.875%，在汉族与壮族间差异无统计学意义( P>0.05)。 SLC26A4基因的 c.919-2A>G突变位点的检出率汉族高于壮族，差异有统计学意义( P=0.028)。结论 GJB2基因为新生儿常见耳聋主要突变基因；汉族 c.919-2A>G突变位点的检出率高于壮族。 |
| 英文摘要: |
| Objective To analyze the common deafness gene carriers and mutation types of newborns in Nanning area, and to explore the differences between Han and Zhuang nationalities.Methods A total of 6 698 newborns born in Minzu Hospital of GuangxiZhuang Autonomous Region from August 2017 to April 2021 were tested for 13 mutation sites of GJB2, SLC26A4, mt DNA and GJB3genes by flow-through hybridization technology. The overall detection rate of deafness genes and the distribution of mutation sites wereanalyzed, and the Zhuang and Han nationalities were analyzed statistically.Results There were 119 deafness patients with positive gene screening, and the overall detection rate was 1.78%, 2.02% in Han nationality and 1.63% in Zhuang nationality, and the difference was not statistically significant (P=0.253). The detection rate of GJB2 gene was 1.00%, 1.11% in Han nationality and 1.00% in Zhuang nationality, and the difference was not statistically significant (P=0.680). Followed by SLC26A4 gene 0.48%, mt DNA 0.28%and GJB3 0.03%, and there was no significant difference in the detection rate of the three genes between Han and Zhuang (P>0.05).c.235 del C was the main mutation site with a detection rate of 0.875%, and there was no significant difference between Han nationality and Zhuang nationality (P>0.05). c. 919-2A>G in SLC26A4 gene was higher in Han nationality, and the difference was statistically significant (P=0.028). Conclusion GJB2 gene is the main mutated gene for common deafness in newborns, the detection rate of c.919-2A >G mutation site in Han nationality was higher than that in Zhuang nationality. |
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