Pathogenic mitochondrial DNA mutations are common in the general population.
Pathogenic mitochondrial DNA mutations are common in the general population.
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DOI：
10.1016/j.ajhg.2008.07.004
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发表时间：
2008-08
影响因子：
9.8
通讯作者：
Chinnery, Patrick F.
中科院分区：
文献类型：
--
作者：
Elliott, Hannah R.;Samuels, David C.;Eden, James A.;Relton, Caroline L.;Chinnery, Patrick F.
线粒体DNA(MtDNA)突变是遗传病的主要原因，但其在普通人群中的流行情况尚不清楚。我们测定了3168例新生儿脐带血样本中10个线粒体点突变的频率，分析了匹配的母血样本以估计从头突变的频率。MtDNA突变检出15例(0.54%，95%CI=0.30~0.89%)。在这些活产婴儿中，0.00107%(95%CI=0.00087-0.0127)携带母亲血液中未检测到的突变，这提供了对从头突变比率的估计。最常见的突变是m.3243A→G.m.14484T→C仅在线粒体DNA单倍组J的子支上发现。结论：每200名健康人中至少有一人携带致病性线粒体DNA突变，可能导致女性携带者的后代患病。在单倍群J上排他性检测m.14484T→C，提示背景mtDNA单倍型参与突变。这些发现强调了开发预防传播的新方法的重要性。
Mitochondrial DNA (mtDNA) mutations are a major cause of genetic disease, but their prevalence in the general population is not known. We determined the frequency of ten mitochondrial point mutations in 3168 neonatal-cord-blood samples from sequential live births, analyzing matched maternal-blood samples to estimate the de novo mutation rate. mtDNA mutations were detected in 15 offspring (0.54%, 95% CI = 0.30–0.89%). Of these live births, 0.00107% (95% CI = 0.00087–0.0127) harbored a mutation not detected in the mother's blood, providing an estimate of the de novo mutation rate. The most common mutation was m.3243A→G. m.14484T→C was only found on sub-branches of mtDNA haplogroup J. In conclusion, at least one in 200 healthy humans harbors a pathogenic mtDNA mutation that potentially causes disease in the offspring of female carriers. The exclusive detection of m.14484T→C on haplogroup J implicates the background mtDNA haplotype in mutagenesis. These findings emphasize the importance of developing new approaches to prevent transmission.
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DOI：
10.1038/nrg1606
发表时间：
2005-05
期刊：
Nature reviews. Genetics
影响因子：
--
作者：
通讯作者：
--
影响因子：
9.8
作者：
Carelli, V;Achilli, A;Torroni, A
通讯作者：
Torroni, A
影响因子：
4
作者：
Chase, DS;Tawn, EJ;Burn, J
通讯作者：
Burn, J
影响因子：
30.8
作者：
Cree, Lynsey M.;Samuels, David C.;Chinnery, Patrick F.
通讯作者：
Chinnery, Patrick F.
影响因子：
11.2
作者：
Darin, N;Oldfors, A;Tulinius, M
通讯作者：
Tulinius, M