CAJ | 학술논문

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GJB2突变携带者,后代50％的几率为GJB2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.
목적 이용기인진단기술위유재생육요구적이롱가정실시산전자순여지도,협조계화생육부문완성유전학평고공작.방법 래자엄주시화유방시적43개이롱가정삼가차연구,각가정균유1개이롱자녀,제1개가정적부모역환이롱외,기여42개가정적부모은력균정상.순문병사、체격검사、은력급영상학검사지후,채집선증자급부모외주혈제취DNA,진행GJB2서렬분석、SLC26A4상견돌변외현자분석화선립체기인( mtDNA) 12SrRNA검측.근거검측결과,결합병사여보조검사신식,향이롱가정제공유전신식여지도.결과 43개이롱가정중,1례선증자급기부모균위GJB2순합돌변도치적유전성이롱,후대재발풍험위100％.10례선증자위GJB2순합/복합돌변도치적유전성이롱,기부모균위GJB2돌변휴대자；2례선증자위SLC26A4순합/복합돌변도치적대전정수관종합정,기부모균위SLC26A4돌변휴대자；1례선증자급기모친위SLC26A4돌변휴대자,단섭골CT증실선증자위대전정수관종합정환자；이상13개이롱가정후대적재발풍험균위25％.1례선증자급기모친위GJB2돌변휴대자,후대50％적궤솔위GJB2돌변휴대자.기여28개이롱가정검측결과위음성.결합병사화보조검사신식,근거불동정황대가정재생육급여료과학적지도.결론 이용이롱기인진단기술,여계화생육부문공동위이롱가정재생육제공과학적산전자순여지도시일충량호적합작모식.
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.Forty-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 family planning.