43例耳聋家庭再生育前的遗传学分析与指导  

Prenatal genetic counseling and instruction for deaf families by genetic test

作　　者：韩明昱[1] 黄莎莎[1] 王国建[1] 袁永一[1] 康东洋[1] 张昕[1] 戴朴[1] 

机构地区：[1]解放军总医院耳鼻咽喉头颈外科医院,北京100853

出　　处：《中华耳鼻咽喉头颈外科杂志》2011年第11期909-913,共5页Chinese Journal of Otorhinolaryngology Head and Neck Surgery

基　　金：基金项目：国家自然科学基金面上项目（30872862,31071099,81070792）;国家自然科学基金青年基金（81000415,81000414,30801285）;北京市科技新星计划资助项目（2009834,20108081）;高等学校优秀博士论文作者专项基金（2007867）

摘　　要：目的利用基因诊断技术为有再生育要求的耳聋家庭实施产前咨询与指导，协助计划生育部门完成遗传学评估工作。方法来自广州市和潍坊市的43个耳聋家庭参加此研究，各家庭均有1个耳聋子女，除1个家庭的父母亦患耳聋外，其余42个家庭的父母听力均正常。询问病史、体格检查、听力及影像学检查之后，采集先证者及父母外周血提取DNA，进行GJB2序列分析、SLC26A4常见突变外显子分析和线粒体基因（mtDNA）12SrRNA检测。根据检测结果，结合病史与辅助检查信息，向耳聋家庭提供遗传信息与指导。结果43个耳聋家庭中，1例先证者及其父母均为GJB2纯合突变导致的遗传性耳聋，后代再发风险为100％。10例先证者为GJB2纯合／复合突变导致的遗传性耳聋，其父母均为GJB2突变携带者；2例先证者为SLC26A4纯合／复合突变导致的大前庭水管综合征，其父母均为SLC26A4突变携带者；1例先证者及其母亲为SLC26A4突变携带者，但颞骨CT证实先证者为大前庭水管综合征患者；以上13个耳聋家庭后代的再发风险均为25％。1例先证者及其母亲为CJB2突变携带者，后代50％的几率为CJB2突变携带者。其余28个耳聋家庭检测结果为阴性。结合病史和辅助检查信息，根据不同情况对家庭再生育给予了科学的指导。结论利用耳聋基因诊断技术，与计划生育部门共同为耳聋家庭再生育提供科学的产前咨询与指导是一种良好的合作模式。Objective Analyzed the molecular pathogenesis of probands by means of genetic test and assisted the local Family Planning Institute by providing prenatal genetic counseling and instruction for deaf families who eager to have more baby. Methods Total of forty-three deaf families were recruited by two institutes for family planning from Guangzhou and Weifang. Fm＇ty-two families had one deaf child with normal hearing parents. One family was that parents and their child were all deaf. Genetic testing of GJB2, SLC26A4 and mitochondrial DNA（mtDNA） 12SrRNA were firstly performed in probands and their parents, following medical history, physical examination, auditory test and CT scan of temporal bone were completed. And then the genetic information and instruction were provided to each deaf family. Results Fifteen of these 43 families had positive results of genetic test. In fifteen families, one family was confirmed that the parents and their child all carried homozygous GJB2 mutations and the recurrence risk was 100%. Twelve families were confirmed that the probands carried homozygous/compound GJB2 or SLC26A4 mutations while their parents were GJB2 or SLC26A4 carriers,and the recurrence risk was 25%. One family was confirmed that the proband, diagnosed with enlarged vestibular aqueduct syndrome （EVAS） by CT scan, carried heterozygous SLC26A4 mutation from the mother, and the recurrence risk was still 25% based on the hereditary pattern of EVAS although another SLC26A4 mutation from the father was not found. One family was confirmed that the proband carried a heterozygous GJB2 mutation from the mother and the possibility to be GJB2 carrier for offsprings was 50%. The rest 28 families were that all probands and their parents did not carry GJB2, SLC26A4 and mtDNA 12SrRNA pathological mutation. Conclusions Genetic testing can provide more accurate and useful prenatal genetic counseling and instruction to deaf families. Meanwhile, it is an ideal way to develop a cooperative relationship with the institute for fami

关 键 词：听力受损者 寡核苷酸序列分析 遗传咨询 

分 类 号：R764.43[医药卫生—耳鼻咽喉科]