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28个携带线粒体基因组突变家系的产前诊断

Prenatal diagnosis of mitochondrial disease: analysis of 28 pedigrees with mitochondrial DNA mutation

摘要:

目的 对28个由于线粒体基因突变所致的线粒体病家系再次妊娠的胎儿进行产前诊断,以确诊其是否受累. 方法 采集2011年4月至201 5年11月在北京大学第一医院就诊的28个线粒体病家系的先证者和母亲的外周血和尿液标本、父亲外周血标本及胎儿羊水标本.应用DNA直接测序法进行线粒体基因基因突变分析,聚合酶链反应-限制性片段长度多态性(polymerase chainreaction-restricted fragment length polymorphisms,PCR-RFLP)方法验证突变位点,计算突变率,并在胎儿出生后进行复检.同时对核基因上的5个短串联重复序列进行分析,以排除母源性污染.对数据采用独立样本t检验进行分析. 结果 在15个携带A3243G突变的家系中,13例母亲血液和/或尿液中检测出携带A3243G突变,其胎儿中,9例也检测出携带该突变;2例血液和尿液均未检出携A3243G突变的母亲,其胎儿也未检出携带该突变.在12个携带T8993G突变的家系中,8例母亲血液和尿液中检测出携带T8993G突变,其胎儿均检测出携带该突变;4例母亲未检测出携带T8993G突变,其胎儿也均未检测出该突变.在1个携带T10191C突变的家系中,母亲未检测出携带T10191C突变,但胎儿检测出携带该突变.所有家系的父亲均未检测出线粒体基因突变.PCR-RFLP检测结果与测序结果一致.短串联重复序列分析发现,胎儿和母亲DNA中有1个不同的等位基因,表明羊水标本来源于胎儿细胞,未见母源性污染.6例未检出A3243G突变和4例未检出T8993G突变的胎儿出生后复查,均未发现相应突变.发现突变的9例母亲的羊水中检出A3243G突变,尿液突变率平均为(28.2±1 5.1)%;未检出A3243G突变的6例母亲的平均突变率为(10.1±4.8)%,明显低于在羊水细胞中检出突变的母亲的突变率(t=2.290,P=0.043). 结论 线粒体病家系的母亲尿液细胞中未检测到线粒体DNA突变或突变率较低时,胎儿有不携带该突变的可能,但仍需进行产前诊断.

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abstracts:

Objective To perform a prenatal diagnosis for the second fetuses from 28 pedigrees with proband of mitochondrial disease due to mitochondrial DNA (mtDNA) mutation.Methods From April 2011 to November 2015,peripheral blood samples of 28 probands and their parents,urine samples of these probands and their mothers as well as amniotic fluid samples of the second fetuses from the 28 pedigrees were collected in Peking University First Hospital.DNA sequencing was used to identify mtDNA mutations.Polymerase chain reaction-restriction fragment length polymorphism (PCR-RFLP) was performed to verify mutation sites,calculate mutation loads,and further confirm the diagnosis after birth.Microsatellite maker analysis was also performed on five short tandem repeats located in nuclear genes to exclude maternal contamination.Statistical analysis was carried out using independent t-test.Results In the 15 pedigrees carrying A3243G mutation,13 mothers and nine fetuses carried A3243G mutation.Neither the other two mothers nor their fetuses were positive for A3243G mutation.Among the 12 pedigrees with T8993G mutation,there were eight mothers carrying T8993G mutation and all of their fetuses carried the same mutation;and the other four mothers and their fetuses were negative for T8993G mutation.T10191C mutation was only found in one proband and the second fetus of that pedigree,but not in the mother.None of the fathers had mtDNA mutation.Results of PCR-RFLP were consistent with those of DNA sequencing.Short tandem repeat analysis demonstrated that amniocyte samples were from fetuses without maternal contamination.No mtDNA mutations were found in the six newborns who were negative for mtDNA mutations in prenatal diagnosis.The mean mutation load in urine samples of the six mothers without A3243G mutation in amniocytes was significantly lower than that of the nine mothers with A3243G mutation [(10.1 ±4.8) % vs (28.2 ± 15.1) %,t=2.290,P=0.043].Conclusions The lower the mtDNA mutation load in maternal urine samples,the less the possibility she bears a child with mtDNA mutation.However,prenatal diagnosis of mitochondrial disease is necessary.

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作者: 刘誉 [1] 张英 [2] 郑雪飞 [2] 潘虹 [2] 戚豫 [2] 马祎楠 [2]
期刊: 《中华围产医学杂志》2017年20卷9期 679-683页 ISTICPKUCSCD
栏目名称: 论著
DOI: 10.3760/cma.j.issn.1007-9408.2017.09.012
发布时间: 2017-10-16
基金项目:
国家自然科学基金(81271256、81471153)National Natural Science Foundation of China
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