国际生殖健康/计划生育杂志

国际生殖健康/计划生育 ›› 2017, Vol. 36 ›› Issue (6): 454-456.

• 论著 • 上一篇    下一篇

听力筛查不合格新生儿的常见耳聋基因检测

李天洁，梁建梅，王向东，王清泽，封纪珍   

  1. 050081  石家庄市妇幼保健院优生遗传科（李天洁，封纪珍）；石家庄市妇幼保健院妇二科（梁建梅）；石家庄市平安医院功能科（王向东）；辛集市妇幼保健院检验科（王清泽）
  • 收稿日期:2017-09-14 修回日期:2017-10-27 出版日期:2017-11-15 发布日期:2017-11-15
  • 通讯作者: 封纪珍，E-mail：279406985@qq.com E-mail:litianjie616@163.com
  • 基金资助:
    河北省医学科学研究重点课题计划项目（20170216）

Genetic Tests in Infants Who Failed to Pass the Neonatal Hearing Screening

LI Tian-jie，LIANG Jian-mei，WANG Xiang-dong，WANG Qing-ze，FENG Ji-zhen   

  1. Department of Eugenics Genetics，Shijiazhuang Maternal and Child Health Care Hospital，Shijiazhuang 050081，China（LI Tian-jie, FENG Ji-zhen）；The Second Department of Gynecology，Shijiazhuang Maternal and Child Health Care Hospital，Shijiazhuang 050081，China（LIANG Jian-mei）；Function Department，Shijiazhuang Ping′an Hospital，Shijiazhuang 050051，China（WANG Xiang-dong）；Clinical Laboratory，Xinji Maternal and Child Health Care Hospital，Shijiazhuang 052360，China（WANG Qing-ze）
  • Received:2017-09-14 Revised:2017-10-27 Published:2017-11-15 Online:2017-11-15
  • Contact: FENG Ji-zhen，E-mail：279406985@qq.com E-mail:litianjie616@163.com

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摘要： 目的：分析石家庄市未通过听力筛查新生儿的常见耳聋基因突变检测结果，探讨耳聋基因检测的临床意义。方法：应用荧光PCR法对42 d复筛耳声发射技术（OAE）和自动听性脑干诱发电位（AABR）检测不合格的134例新生儿进行常见耳聋基因GJB2（235delC、299-300delAT），SLC26A4（IVS7-2A＞G、2168A＞G）和mtDNA12SrRNA（1555A＞G、1494C＞T）检测。结果：发现22例携带耳聋基因突变，携带率16.42%，其中含2例235delC纯合突变、10例235delC杂合突变、1例235delC/299-300delAT复合杂合突变；2例IVS7-2A＞G纯合突变、6例IVS7-2A＞G杂合突变和1例IVS7-2A＞G/2168A＞G复合杂合突变。结论：耳聋基因检测有助于儿童感音神经性耳聋的早期诊断及干预，临床开展该检测项目意义重大。

关键词:  听力检查, 基因, 突变, 聋, 听力障碍, 婴儿, 新生

Abstract: Objective：To analyze the mutations of common deafness genes in the newborns from Shijiazhuang City who failed to pass the hearing screening, so as to explore the clinical significance of the deafness genes detection. Methods: 134 newborns who failed to pass the hearing screening of OAE and AABR when 42 days were tested the common genes related with deafness, including GJB2 (235delC, 299-300delAT), SLC26A4 (IVS7-2A＞G, 2168A＞G) and mtDNA12SrRNA (1494C＞T, 1555A＞G). Results: 22 infants carried mutations, and the carrier rate was 16.42%. There were 2 homogeneous and 10 heterozygous mutations of 235delC, and one 235delC/299-300delAT compound heterozygous. Also, there were 2 homogeneous and 6 heterozygous mutations of IVS7-2A＞G, and one IVS7-2A＞G/2168A＞G compound heterozygous. Conclusions: The test of common deafness genes is helpful to diagnose and intervent early the sensorineural deafness in children, suggesting its important clinical significance.

Key words: Hearing tests, Genes, Mutation, Deafness, Hearing disorders, Infant, newborn