摘要
目的探讨多重连接依赖探针扩增(MLPA)技术对生育过Duchenne型肌营养不良症(DMD)患儿的孕妇的产前诊断价值,为避免再次生育DMD患儿提供科学的指导依据。方法2016年12月至2019年12月在西北妇女儿童医院医学遗传中心就诊的DMD家系(先证者及其母亲)共121例,其中15例家系(包括15个先证者、15个先证者母亲、16例羊水样本)的先证者母亲已再次怀孕,采用MLPA技术对先证者和先证者母亲的DMD基因进行检测,再对母亲羊水进行DMD产前诊断。结果15例产前诊断家系中,先证者缺失突变14例,重复突变1例;7例先证者缺失或重复突变遗传自母亲,新发突变8例。母亲有缺失或重复突变的8例羊水标本中,4例存在杂合缺失突变(女胎),1例存在纯合缺失突变(男胎),其余3例胎儿未检测到外显子缺失或重复;母亲无重复或缺失的8例羊水标本均未检测到DMD外显子拷贝数缺失或重复。缺失率最高的区域位于45-50号外显子。结论在明确先证者DMD基因突变类型前提下,产前诊断是预防再次生育DMD患儿的有效手段。MLPA技术作为可以快速、准确地识别DMD外显子缺失和重复的重要技术手段,对明确DMD患儿家系基因突变类型、携带者检测及产前诊断有着重要的意义。
Objective To explore the value of multiplex ligation-dependent probe amplification(MLPA)technology for prenatal diagnosis of pregnant women who had given birth to children with Duchenne muscular dystrophy(DMD),so as to provide scientific guidance for avoiding having children with DMD again.Methods A total of 121 DMD families(probands and their mothers)admitted in the medical heredity research center of Northwest Women's and Children's Hospital from December 2016 to December 2019,of which 15 probands'mothers from the families(including 15 probands,15 probands'mothers,and 16 amniotic fluid samples)had become pregnant again.DMD genes of the probands and probands'mothers were detected by MLPA technology,and then the amniotic fluid of the mothers was used for prenatal diagnosis of DMD.Results Among the 15 families with prenatal diagnosis,there were 14 cases of deletion mutations,and 1 case of duplication mutation in the probands;there were 7 cases of probands with the deletion or duplication mutations inherited from their mothers,and 8 cases of new mutations.Of the 8 cases of amniotic fluid samples whose mothers had deletion or duplication mutations,4 cases had heterozygous deletion mutations(female fetuses),1 case had homozygous deletion mutations(male fetus),and the other 3 cases of fetus had no exon deletion or duplication;no copy number deletion or duplication of DMD exon was detected in 8 cases of amniotic fluid samples without duplication or deletion of mother.The region with the highest frequency of deletion was found in exon 45 to 50.Conclusion Under the premise of identifying the type of DMD gene mutation in theproband,prenatal diagnosis is an effective means to prevent the rebirth of children with DMD.As an important technical means to quickly and accurately identify the deletion and duplication of DMD exon,MLPA technology is of great significance to clarify the type of gene mutation,carrier detection and prenatal diagnosis of children with DMD.
作者
石凤蕊
吴秋华
王林
强荣
SHI Fengrui;WU Qiuhua;WANG Lin;QIANG Rong(Center of Medical Genetics,Northwest Women's and Children's Hospital,Xi'an 710061,China)
出处
《临床医学研究与实践》
2023年第21期89-92,共4页
Clinical Research and Practice
基金
西北妇女儿童医院院内科研项目(No.2022YN24)。
