| 湖北某特殊学校52例耳聋患儿耳聋基因检测结果分析 |
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| 引用本文： | 王红梅,李斌,周娇. 湖北某特殊学校52例耳聋患儿耳聋基因检测结果分析[J]. 中国儿童保健杂志, 2019, 27(2): 190-193. DOI: 10.11852/zgetbjzz2018-0475 |
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| 作者姓名： | 王红梅 李斌 周娇 |
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| 作者单位： | 湖北医药学院附属东风医院 1 实验中心;2.妇产科;3.泌尿外科,湖北 十堰 442000 |
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| 基金项目： | 湖北省教育厅中青年人才项目(Q20162113);湖北省卫计委指导性项目(WJ2017F082);十堰市科学技术研究与开发项目(18Y77) |
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| 摘 要： | 目的对某特殊学校耳聋患者进行聋病易感基因GJB2、GJB3、SLC26A4和线粒体DNA4(mtDNA)个基因13个位点的筛查,并与该地区正常儿童进行比对,了解其突变基因与位点。方法 2017年3-9月采集52例耳聋患儿与1 131例正常儿童的外周血,提取基因组DNA,应用遗传性耳聋基因芯片检测试剂盒对GJB2、SLC26A4、mtDNA及GJB3基因的13个突变位点进行检测。结果 52例耳聋学生中18例(34.63%)突变携带者,携带不同突变基因。GJB2基因突变13例(25.00%),其中纯合突变3例(5.77%),单杂合突变6例(11.54%),复合杂合突变4例(7.69%)。SLC26A4基因突变3例(5.77%),其中纯合突变2例(3.85%),单杂合突变1例(1.92%);mtDNA基因突变2例(3.85%),均为1555A>G均质突变;未检测到GJB3基因突变。而1 131例正常儿童中125例(11.05%)突变携带者,携带不同突变基因。GJB2基因突变79例(6.99%),SLC26A4基因突变35例(3.09%),mtDNA基因突变11例(0.97%),未检测到GJB3基因突变。耳聋患儿与正常儿童耳聋基因检测分布差异有统计学意义(χ2=25.98,P<0.001)。结论该聋哑学校耳聋突变热点基因以GJB2和SLC26A4为主,且GJB2 235delC(19.23%)是最常见突变位点,耳聋基因检测为减少出生缺陷提供了依据。
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| 关 键 词： | 耳聋 基因 突变 |
| 收稿时间： | 2018-04-17 |
| 修稿时间： | 2018-07-26 |
Analysis of the results of the deafness gene in 52 deaf children from special school in Hubei province |
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| WANG Hong-mei,LI Bin,ZHOU Jiao. Analysis of the results of the deafness gene in 52 deaf children from special school in Hubei province[J]. Chinese Journal of Child Health Care, 2019, 27(2): 190-193. DOI: 10.11852/zgetbjzz2018-0475 |
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| Authors: | WANG Hong-mei LI Bin ZHOU Jiao |
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| Affiliation: | 1.Experiment Center;2.Department of Obstetrics and Gynecology;3.Department of Urology, Dongfeng Hospital Affiliated to Hubei University of Medicine, Shiyan,Hubei 442000,China〖JZ |
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| Abstract: | Objective To screen 13 sites of the genes GJB2, GJB3, SLC26A4 and mitochondrial DNA(mtDNA) susceptible to deafness in deaf children from a special school, and to compare with hearing normal children, in order to know about the mutation gene and sites. Methods The peripheral blood of 52 deaf children and 1 131 children with normal hearing were collected, and genomic DNA was extracted from March to September 2017.And 13 mutation sites of GJB2, SLC26A4, mtDNA and GJB3 genes were detected by using the hereditary deafness gene chip detection kit. Results Totally 18(34.63%) mutation carriers were detected in 52 deaf patients who carried different mutation genes.And 13 cases with GJB2 gene mutations(25.00％),including 3(5.77%) cases of homozygous mutation,6(11.54%) cases of single heterozygous mutation and 4(7.69%) cases of complex heterozygous mutation.Also,3(5.77％) cases with SLC26A4 gene mutations, including 2 (3.85%) cases of homozygous mutation and 1 (1.92%) cases of single heterozygous mutation.And 2 cases with mtDNA gene mutations(3.85%), which were 1555A>G homogenous mutations.No GJB3 gene mutation was detected.Finally 125 (11.05%) mutation carriers were detected carrying different mutated genes in 1 131 children with normal hearing, of whom 79(6.99%) cases with GJB2 gene mutations,35(3.09%)cases with SLC26A4 gene mutations,11 cases with mtDNA gene mutations(0.97%).No GJB3 gene mutation was detected.There were significant differences on gene distribution between deaf children and normal children(χ2=25.98, P<0.001). Conclusions The hotspot gene of deafness mutation mainly are GJB2 and SLC26A4 in this special school, and GJB2 235delC(19.23%) is the most common mutation site.And genetic testing of deafness provides evidence for reducing birth defects. |
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| Keywords: | deafness gene mutation |
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