天津医药

天津医药 ›› 2017, Vol. 45 ›› Issue (9): 953-957.doi: 10.11958/20170758

• 临床研究 • 上一篇    下一篇

208 例非综合征性耳聋患者的基因诊断与产前诊断

梁玥宏，任晨春△，王文靖，张海霞，杨微微，李德明，张月香   

  1. 天津市中心妇产科医院（邮编 300100）
  • 收稿日期:2017-06-29 修回日期:2017-07-27 出版日期:2017-09-15 发布日期:2017-09-25
  • 通讯作者: 梁玥宏 E-mail:feiniuhuoguo2013@163.com
  • 基金资助:
    天津市卫计委重点项目

Genetic Analysis and Prenatal Diagnosis for Patients with Non-syndromic Hearing Impairment

LIANG Yue-hong, REN Chen-chun△, WANG Wen-jing, ZHANG Hai-xia, YANG Wei-wei, LI De-ming, ZHANG Yue-xiang   

  • Received:2017-06-29 Revised:2017-07-27 Published:2017-09-15 Online:2017-09-25

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摘要： 摘要：目的 明确非综合征性耳聋患者的分子学病因，并对高危胎儿进行产前诊断。方法 以 208 例非综合征 性耳聋患者为研究对象，应用耳聋基因芯片，针对 GJB2、SLC26A4、GJB3 以及线粒体 12 S rRNA 基因的 9 个突变位点 进行检测，对检测出 GJB2 或 SLC26A4 基因单杂合突变者 41 例进行相应基因扩增并测序。对 2 例高危胎儿通过 GJB2 或 SLC26A4 基因测序进行产前诊断。结果 208 例患者中，86 例通过基因芯片检出突变位点，检出率 41.35% （86/208），检出 2 个突变位点者 40 例，检出 1 个突变位点者 46 例。最常见为 GJB2 基因 235delC 突变，共 46 例患者 检出，检出率 22.12%（46/208）。对其中 41 例 GJB2 或 SLC26A4 基因单杂合突变患者进行测序，有 12 例检出另一突 变，使检出 2 个突变的患者增加至 52 例，明确诊断率达到 25.00%（52/208）。对 2 个高危胎儿进行产前诊断，家系 1 胎儿为 299-300delAT 和 235delC 复合杂合突变患儿。家系 2 胎儿为 IVS7-2A＞G 携带者。结论 基因芯片结合 Sanger 测序是对非综合征性耳聋患者进行基因诊断的有效方法，对高危胎儿进行产前诊断是优生优育的重要手段。

关键词: 聋, 产前诊断, 非综合征性耳聋, GJB2 基因, SLC26A4 基因, 测序, 基因芯片

Abstract: Abstract：Objective To explore the genetic pathogen of patients with non-syndromic hearing impairment and to provide prenatal diagnosis for the families of hereditary deafness. Methods DNA was extracted from peripheral blood of 208 patients. Gene chip and direct sequencing were performed to find mutations. And prenatal diagnosis was carried out in two families by direct sequencing. Results Forty patients were detected two mutations and 46 patients were detected one by gene chip. And 12 cases were found the second mutation through sequencing. The most frequent mutation is 235delC. Fetus 1carried compound mutations of 299-300delAT and 235delC. And fetus 2 carried heterozygous mutation of IVS7-2A＞G. Conclusion Patients with non-syndromic hearing impairment can be accurate diagnosed by gene chip and Sanger sequencing. And prenatal diagnosis is primary means for affected families.

Key words: non-syndromic hearing impairment(NSHI), GJB2gene, SLC26A4　gene, prenatal diagnosis, sequencing