国际生殖健康/计划生育杂志

国际生殖健康/计划生育 ›› 2015, Vol. 34 ›› Issue (4): 293-295.

• 论著 • 上一篇    下一篇

6 945例新生儿耳聋基因突变方式调查

封纪珍，李天洁，莫中福，李丽欣，王亚凡   

  1. 050081 石家庄市妇幼保健院
  • 收稿日期:1900-01-01 修回日期:1900-01-01 出版日期:2015-07-15 发布日期:2015-07-15
  • 通讯作者: 李天洁

Molecular Epidemiological Survey of Deafness Related Genes in 6 945 Newborns

FENG Ji-zhen，LI Tian-jie，MO Zhong-fu，LI Li-xin，WANG Ya-fan   

  1. Shijiazhuang Maternal and Children Care Center，Shijiazhuang 050081，China
  • Received:1900-01-01 Revised:1900-01-01 Published:2015-07-15 Online:2015-07-15
  • Contact: LI Tian-jie

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摘要： 目的：分析新生儿耳聋基因突变携带率，构建信息储备库，为临床诊断、遗传咨询提供可靠数据。方法：选取2014年1—10月在石家庄市妇幼保健院出生的6 945例新生儿于出生3 d后采足跟血，应用荧光聚合酶链反应（PCR）法行先天性遗传性耳聋GJB2基因235delC位点、迟发性耳聋SLC26A4基因（IVS7-2A＞G和2168A＞G）和药物性耳聋线粒体12S rRNA基因（1555A＞G和1494C＞T）检测，所有检测均在家属知情同意下进行。结果：6 945例新生儿中共发现突变携带者239例，检出率为3.44%。其中114例（1.64%）携带235delC杂合突变，1例（0.01%）携带235delC纯合突变；97例（1.40%）携带IVS7-2A＞G杂合突变，1例（0.01%）携带IVS7-2A＞G纯合突变，14例（0.20%）携带2168A＞G杂合突变；9例（0.13%）携带1555A＞G均质突变，2例（0.03%）携带1555A＞G异质突变，1例（0.01%）同时携带有IVS7-2A＞G杂合突变、1555A＞G异质突变和235delC杂合突变。结论：GJB2基因235delC位点和SLC26A4基因IVS7-2A＞G位点是新生儿耳聋基因突变的主要方式。新生儿耳聋基因检测工作的开展有助于了解新生儿耳聋基因携带情况，在分子水平上为优生优育工作提供一定的指导。

关键词: 遗传性疾病, 先天性, 婴儿, 新生, 听觉丧失, 遗传筛查, 聚合酶链反应, 流行病学研究

Abstract: Objective: To analyze the mutation rate of the deafness related genes in newborns, and to construct a database which provide reliable data for clinical diagnosis and genetic counseling. Methods：Blood samples of 6 945 newborns were collected from the heel on the Day 3 after birth in our center with the informed consent. Mutations of the deafness related genes were detected by the fluorescent PCR. 5 mutation sites in 3 genes, including GJB2 （235delC）, SLC26A４ （IVS7-2A＞G, 2168A＞G）, mitochondrial DNA12S rRNA （1494C＞T, 1555A＞G） were tested. Results：There were 239 neonates who carried mutations （239/6 945, 3.44%）. 114 （１．６４％） ｎｅwborns carried heterozygous mutations and １ （０．０１％） homogeneous mutation of GJB2 （235delC）; 97 （１．４０％） neonates carried heterozygous mutations and １（０.01%） homogeneous mutation of SLC26A4 （IVS7-2A＞G); and 14 (0.2%) newborns carried heterozygous mutations of SLC26A4 （２168A＞G）. There were 9 and 2 neonates who carried homogeneous and heterogeneous mutation of mitochondrial 12S rRNA gene （0.13% and 0.03％）． One newborn was found to carry 3 heterozygous mutations of 235delC, IVS7-2A＞G and 1555A＞G. Conclusions：The main mutational patterns of newborns were 235delC of GJB2 gene and IVS7-2A＞G of SLC26A4 gene in our center. The detection of deafness genes in newborns is helpful to investigate the carrier rate, which provides an academic guidance for local sound child rearing.

Key words: Genetic diseases, inborn, Infant, newborn, Hearing loss, Genetic screening, Polymerase chain reaction, Epidemiologic studies