Genome Analyses of Single Human Oocytes

被引：302

作者：

Hou, Yu ^{[1
,2
]}

Fan, Wei ^{[1
,2
,6
]}

Yan, Liying ^{[1
,2
]}

Li, Rong ^{[1
,2
]}

Lian, Ying ^{[1
,2
]}

Huang, Jin ^{[1
,2
]}

Li, Jinsen ^{[1
,2
]}

Xu, Liya ^{[1
,2
]}

Tang, Fuchou ^{[1
,2
,7
]}

Xie, X. Sunney ^{[1
,2
,3
]}

Qiao, Jie ^{[1
,2
,4
,5
]}

机构：

[1] Peking Univ, Hosp 3, Coll Life Sci, Biodynam Opt Imaging Ctr, Beijing 100871, Peoples R China

[2] Peking Univ, Hosp 3, Ctr Reprod Med, Beijing 100871, Peoples R China

[3] Harvard Univ, Dept Chem & Chem Biol, Cambridge, MA 02138 USA

[4] Minist Educ, Key Lab Assisted Reprod, Beijing 100191, Peoples R China

[5] Beijing Key Lab Reprod Endocrinol & Assisted Repr, Beijing 100191, Peoples R China

[6] Peking Tsinghua Ctr Life Sci, Beijing 100084, Peoples R China

[7] Minist Educ, Key Lab Cell Proliferat & Differentiat, Beijing 100871, Peoples R China

来源：

CELL | 2013年 / 155卷 / 07期

基金：

中国国家自然科学基金;

关键词：

PREIMPLANTATION GENETIC DIAGNOSIS; MEIOTIC RECOMBINATION; MATERNAL AGE; CROSSOVER INTERFERENCE; SPERM CELLS; NONDISJUNCTION; RESOLUTION; RATES; NUCLEOTIDE; ANEUPLOIDY;

D O I：

10.1016/j.cell.2013.11.040

中图分类号：

Q5 [生物化学]; Q7 [分子生物学];

学科分类号：

071010 ; 081704 ;

摘要：

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.

引用

页码：1492 / 1506

页数：15

共 47 条

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