Genome Analysis of Human Oocyte

Single-cell genome analyses of human oocytes are important for meiosis research as well preimplantation genomic screening in in vivo fertilization. However, the lack of nonuniformity of single-cell whole-genome amplification hindered its implemenattion. In collaboration with Fuchou Tang’s group at BIOPIC, and Jie Qiao’s group at Peking University, we carried out whole-genome amplification and sequencing of single human oocytes using multiple annealing and looping-based amplification cycle (MALBAC) method, providing the first comprehensive study of crossovers and genetic interference in human oocytes

Furthermore, we precisely and nondestructively deduce the genome of a fertilized egg, particularly the oocyte pronucleus, including information regarding aneuploidy and SNPs in disease-associated alleles, by sequencing the genomes of the dispensable first polar body (PB1) and PB2. The MALBAC-based preimplantation genomic screening in vitro fertilization enables accurate and cost-effective selection of normal fertilized eggs for embryo transfer.


Hou, Yu; Fan, Wei; Yan, Liying; Li, Rong; Lian, Ying; Huang, Jin; Li, Jinsen; Xu, Liya; Tang, Fuchou; Xie, X. Sunney; Qiao, Jie. “Genome Analyses of Single Human Oocytes,” Cell 155, 1492-1506 DOI:10.1016/j.cell.2013.11.040 (2013)