国际生殖健康/计划生育杂志

国际生殖健康/计划生育 ›› 2020, Vol. 39 ›› Issue (2): 113-116.

• 论著 • 上一篇    下一篇

129例辅助生殖技术子代儿童耳聋基因突变筛查

孟晔，陶媛媛，胡馨，桑美英，童先宏   

  1. 230001 合肥，中国科学技术大学附属第一医院生殖与遗传分院
  • 收稿日期:2019-10-22 修回日期:2020-01-11 出版日期:2020-03-15 发布日期:2020-03-15
  • 通讯作者: 童先宏，E-mail：tong68xianhong@163.com E-mail:tong68xianhong@163.com
  • 基金资助:
    中央引导地方专项资金科技惠民项目（2016080802D114）；国家自然科学基金（81801444）

Screening of Common Deafness Gene Mutations in 129 Children Conceived through Assisted Reproductive Technology

MENG Ye，TAO Yuan-yuan，HU Xin，SANG Mei-ying，TONG Xian-hong   

  1. Division of Production and Genetics，The First Affiliated Hospital of University of Science and Technology of China，Hefei 230001，China
  • Received:2019-10-22 Revised:2020-01-11 Published:2020-03-15 Online:2020-03-15
  • Contact: TONG Xian-hong，E-mail：tong68xianhong@163.com E-mail:tong68xianhong@163.com
  • Supported by:
     

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摘要： 目的：了解辅助生殖技术（assisted reproductive technology，ART）子代儿童常见遗传性耳聋基因突变发生率。方法：随机选取2010年1月—2014年12月在中国科学技术大学附属第一医院行ART助孕成功的129例子代为研究对象，平均年龄为（4.37±0.92）岁，同时收集161例自然妊娠出生的子代血样。利用高通量测序法对研究对象的常见耳聋基因突变位点进行筛查。结果：129例ART子代共发现11例携带耳聋基因突变，包含12个基因位点的突变，而161例自然妊娠子代共发现9例携带耳聋基因突变，包含9个基因位点的突变，2组耳聋基因突变发生率比较差异无统计学意义（χ2=0.962，P=0.327）。ART子代中GJB2突变携带者2例（1.55%），男女比例为1∶1；GJB3突变携带者3例（2.33%），男女比例为1∶2；SLC26A4突变携带者7例（5.43%），男女比例为5∶2；未发现线粒体12S rRNA基因突变携带者。1例有GJB2基因235delC位点和SLC26A4基因IVS7-2A＞G位点双杂合突变。ART子代中，体外受精（IVF）组耳聋基因位点突变发生率为11.83%（11/93），胞浆内单精子注射（ICSI）组为2.78%（1/36），差异无统计学意义（χ2=2.520，P=0.112）；新鲜胚胎移植组为11.39%（9/79），冷冻胚胎移植组为6.00%（3/50），差异无统计学意义（χ2=1.055，P=0.304）。结论：ART子代遗传性耳聋基因突变发生率与自然妊娠组子代相似；ART组以SLC26A4基因IVS7-2A>G位点突变阳性率最高。而受精方式以及移植新鲜或冻融胚胎对ART子代的遗传性耳聋的基因突变发生率无显著影响。

关键词: 遗传性耳聋；, 生殖技术, 辅助；, 点突变；, 多态现象, 遗传；, 高通量测序；, 基因；, 突变；, 基因检测

Abstract: Objective: To investigate the mutative rate of common hereditary deafness genes in children conceived through assisted reproductive technology (ART offspring). Methods：A total of 129 cases of ART offspring in our center from January 2010 to December 2014 were included, and the average age of the subjects was (4.37±0.92) years old. Blood samples of 161 offspring conceived through natural pregnancy (as the control group) were collected. High-throughput sequencing was used to screen the deafness gene mutation sites. Results：A total of 11 ART offspring were found to have deafness gene mutations, including 12 mutations in the gene locus. A total of 9 cases in the control group were found to carry deafness gene mutations, including 9 mutations in the gene locus. There was no statistically significance of the mutation incidence in the two groups ( χ2=0.962, P=0.327). In ART offspring, there were 2 cases of GJB2 mutation carrier (1.55%, male to female was 1∶1), 3 cases of GJB3 mutation carrier (2.33%, male to female was 1∶2), 7 cases of SLC26A4 mutation carrier (5.43%, male to female was 5∶2) and one case of GJB2 gene 235delC site and a SLC26A4 gene IVS7-2A>G site double heterozygous mutation. There was no mitochondrial 12S rRNA gene mutation carrier in those ART offspring. The mutation rate of gene locus was 11.83% (11/93) in the IVF group, and 2.78% (1/36) in the ICSI group, with no significant difference between the IVF group and the ICSI group ( χ2=2.520, P=0.112). The mutation rate of gene locus was 11.39% (9/79) in the fresh embryo transfer group, and 6.00% (3/50) in the frozen embryo transfer group, with no significant difference between the two groups ( χ2=1.055, P=0.304). Conclusions：The incidence of hereditary deafness gene mutations in ART offspring is similar with the offspring conceived through natural pregnancy. In ART offspring, the positive rate of SLC26A4 gene IVS7-2A＞G site mutation is the highest. There is no significant effect of the fertilization method and the fresh or frozen-thawed embryo transfer on the mutation rate of hereditary deafness in ART offspring.

Key words: Hereditary deafness, Reproductive techniques, assisted, Point mutation, Polymorphism, genetic;, High-throughput sequencing;, Genes, Mutation;, Genetic testing

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