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Cell. 2013 Dec 19;155(7):1492-506. doi: 10.1016/j.cell.2013.11.040.

Genome analyses of single human oocytes.

Author information

1
Biodynamic Optical Imaging Center, College of Life Sciences and Center for Reproductive Medicine, Third Hospital, Peking University, Beijing 100871, China.
2
Biodynamic Optical Imaging Center, College of Life Sciences and Center for Reproductive Medicine, Third Hospital, Peking University, Beijing 100871, China; Peking-Tsinghua Center for Life Science, Beijing 100084, China.
3
Biodynamic Optical Imaging Center, College of Life Sciences and Center for Reproductive Medicine, Third Hospital, Peking University, Beijing 100871, China; Ministry of Education Key Laboratory of Cell Proliferation and Differentiation, Beijing 100871, China. Electronic address: tangfuchou@pku.edu.cn.
4
Biodynamic Optical Imaging Center, College of Life Sciences and Center for Reproductive Medicine, Third Hospital, Peking University, Beijing 100871, China; Department of Chemistry and Chemical Biology, Harvard University, Cambridge, MA 02138, USA. Electronic address: xie@chemistry.harvard.edu.
5
Biodynamic Optical Imaging Center, College of Life Sciences and Center for Reproductive Medicine, Third Hospital, Peking University, Beijing 100871, China; Key Laboratory of Assisted Reproduction, Ministry of Education and Beijing Key Laboratory of Reproductive Endocrinology and Assisted Reproductive Technology, Beijing 100191, China. Electronic address: jie.qiao@263.net.

Abstract

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.

PMID:
24360273
DOI:
10.1016/j.cell.2013.11.040
[Indexed for MEDLINE]
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