Genome Analyses of Single Human Oocytes
Genome Analyses of Single Human Oocytes
复制标题
单个人类卵母细胞的基因组分析
DOI：
10.1016/j.cell.2013.11.040
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发表时间：
2013-12-19
期刊：
影响因子：
64.5
通讯作者：
Qiao, Jie
中科院分区：
文献类型：
--
作者：
Hou, Yu;Fan, Wei;Qiao, Jie
人类卵母细胞的单细胞基因组分析对减数分裂研究和植入前基因组筛选具有重要意义。然而，单细胞全基因组扩增的不一致性阻碍了它的应用。在这里，我们使用基于多重退火法和循环扩增循环(MALBAC)的测序技术对单个人类卵母细胞进行基因组分析。通过对来自同一女性卵子供者的第一、第二极体(PB1和PB2)和卵母细胞原核的三联体进行测序，我们将这些捐赠者的基因组与检测到的SNPs相合，并确定其卵母细胞的交叉图谱。我们的数据显示了预期的交叉干扰，并表明存在微弱的染色单体干扰。此外，卵母细胞原核的基因组，包括关于非整倍体和疾病相关等位基因中的SNPs的信息，可以从PB1和PB2的基因组中准确地推断出来。基于MALBAC的体外受精(IVF)植入前基因组筛选能够准确、经济地选择用于胚胎移植的正常受精卵。
Single-cell genome analyses of human oocytes are important for meiosis research and preimplantation genomic screening. However, the nonuniformity of single-cell whole-genome amplification hindered its use. Here, we demonstrate genome analyses of single human oocytes using multiple annealing and looping-based amplification cycle (MALBAC)-based sequencing technology. By sequencing the triads of the first and second polar bodies (PB1 and PB2) and the oocyte pronuclei from same female egg donors, we phase the genomes of these donors with detected SNPs and determine the crossover maps of their oocytes. Our data exhibit an expected crossover interference and indicate a weak chromatid interference. Further, the genome of the oocyte pronucleus, including information regarding aneuploidy and SNPs in disease-associated alleles, can be accurately deduced from the genomes of PB1 and PB2. The MALBAC-based preimplantation genomic screening in in vitro fertilization (IVF) enables accurate and cost-effective selection of normal fertilized eggs for embryo transfer.