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产前诊断对遗传性耳聋家庭的生育指导

ISSN号：1672-4933
期刊名称：《中国听力语言康复科学杂志》
时间：0
分类：R764.43[医药卫生—耳鼻咽喉科;医药卫生—临床医学] R714.5[医药卫生—妇产科学;医药卫生—临床医学]
作者机构：[1]中国人民解放军总医院耳鼻咽喉头颈外科,北京100853, [2]北京协和医院妇产科,北京100730, [3]国家人口计生委科学技术研究所,北京100081
相关基金：国家自然科学基金面上项目（30572015,3072B030 30600701）.北京市自然科学基金面上项目（7062062）,解放军总医院科技创新基金（06ZY13）

作者：韩冰[1], 戴朴[1], 戚庆伟[2], 王毅[3], 边旭明[2], 张昕[1], 韩东一[1]

关键词：遗传性耳聋, GJB2基因, SLC26A4基因, 基因诊断, 产前诊断, Hereditary deafness, GJB2 gene, SLC26A4 gene, Gene diagnosis, Prenatal diagnosis

中文摘要：

目的通过一典型的有再生育要求的耳聋家庭病例，具体阐述耳聋产前诊断为耳聋家庭提供科学生育指导的内容、过程及意义。方法此耳聋家庭育有一子，为先天性耳聋患者，父母均为昕力正常者。对先证者进行详细的体格检查、昕力学及影像学检查后，采集先证者及其父母的外周血并提取DNA，进行GJB2，SLC26A4（PDS）基因分析和线粒体DNA（mtDNA）A1555G位点突变检测。明确受检者基因型并向该家庭提供遗传学信息后，在母亲妊娠早期（约10周）行产前诊断取材并提取DNA，明确胎儿的基因型。结果先证者携带GJB2复合突变，父母为携带者，此耳聋家庭再发风险为25％，产前诊断显示胎儿仅携带一个母系突变，出生后随访听力正常。结论耳聋产前诊断可为遗传性耳聋家庭提供科学的生育指导。

英文摘要：

Objective To evaluate the content, procedures and significance of prenatal care and guidance for the families of hereditary deafness. Methods The deaf family is composed of a deaf child and the parents with normal hearing. The proband underwent the physical examination, auditory testing, CT scan of the temporal bone and the genetic testing of GJB2, SLC26A4 and mitochondrial DNA （mtDNA） A1555G mutation. DNA was extracted from the peripheral blood of the parents. The family was counseled regarding the genetic information and the prenatal diagnosis was carried out in the fetus whose DNA was extracted from the fetus materials at about 10 weeks of gestation. Results The proband was proven to carry compound GJB2 mutations while the parents carried a single GJB2 mutation. The recurrence risk of their offspring was 25%. Prenatal diagnosis showed that the fetus only carried the maternal mutation. The newborn baby had normal hearing confirmed by a hearing screening. Conclusion Prenatal diagnosis accompanied with genetic testing can provide scientific genetic instructions.

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