CAJ | 학술논문

目的分析假肥大型肌营养不良症(Duchenne and Becker muscular dystrophy,DMD/BMD)家系的致病突变,对胎儿进行产前诊断,并确定家系中的女性成员是否为突变携带者.方法收集43个DMD/BMD家系,用多重PCR方法分析DMD基因缺失热点区的18个外显子；用多重连接依赖性探针扩增(multiplex ligation-dependent probe amplification,MLPA)方法对43例患者及32个家系中的36位女性进行DMD基因全部79个外显子的定量检测,为其中27个家系提供产前诊断.结果用多重PCR共检测到26例缺失突变.采用MLPA方法,除多重PCR检测到的突变外,还检测到3例缺失和6例重复突变,突变范围明确.用MLPA检测的36例女性中,32例为患儿母亲,共发现16例突变携带者,另有2名女性亲属也被确诊为携带者.10名女性排除了携带者的可能性,8例不能确定.经产前诊断,18例男性胎儿中3例为患者,9例女性胎儿中1例为携带者.结论 MLPA方法可全面检测DMD基因缺失及重复突变,同时明确女性携带者,从而为产前诊断提供准确信息.
목적 분석가비대형기영양불량증(Duchenne and Becker muscular dystrophy,DMD/BMD)가계적치병돌변,대태인진행산전진단,병학정가계중적녀성성원시부위돌변휴대자.방법 수집43개DMD/BMD가계,용다중PCR방법분석DMD기인결실열점구적18개외현자；용다중련접의뢰성탐침확증(multiplex ligation-dependent probe amplification,MLPA)방법대43례환자급32개가계중적36위녀성진행DMD기인전부79개외현자적정량검측,위기중27개가계제공산전진단.결과 용다중PCR공검측도26례결실돌변.채용MLPA방법,제다중PCR검측도적돌변외,환검측도3례결실화6례중복돌변,돌변범위명학.용MLPA검측적36례녀성중,32례위환인모친,공발현16례돌변휴대자,령유2명녀성친속야피학진위휴대자.10명녀성배제료휴대자적가능성,8례불능학정.경산전진단,18례남성태인중3례위환자,9례녀성태인중1례위휴대자.결론 MLPA방법가전면검측DMD기인결실급중복돌변,동시명학녀성휴대자,종이위산전진단제공준학신식.
Objective To detect potential mutations for probands from families affected with Duchenne/Becker muscular dystrophy (DMD/BMD),and to carry out prenatal diagnosis through identification of female carriers.Methods A total of 43 DMD/BMD families were recruited.Multiplex PCR was used to analyze 18 exons within hotspots for DMD gene deletions.Multiplex ligation dependent probe amplification (MLPA) was used to detect potential deletions and duplications of DMD gene for 43 patients and 36 females from 32 families.Prenatal diagnosis was performed for 27 families.Results Deletional mutations were detected in 26 patients with multiplex PCR.In addition,MLPA has detected 3 deletions and 6 duplicational mutations,and the ranges of mutations were all determined.Among 36 female members,18 were determined as carriers of deletional mutations,10 were excluded as mutation carriers.The status of remaining 8 could not be determined.For prenatal diagnosis,3 out of 18 male fetuses were diagnosed as patients and 1 female fetus was identified as carrier.Conclusion MLPA is an accurate and reliable method for detecting deletional/duplicational mutation of DMD gene as well as for prenatal diagnosis and detection of female carriers.