Assisted Reproductive Centre of the Department of Gynaecology and Obstetrics, PLA Naval General Hospital, Haidian District, Beijing 100048, China.
Assisted Reproductive Centre of the Department of Gynaecology and Obstetrics, PLA Naval General Hospital, Haidian District, Beijing 100048, China.
Reprod Biomed Online. 2018 Jan;36(1):67-74. doi: 10.1016/j.rbmo.2017.10.110. Epub 2017 Nov 8.
Single cell whole genome sequencing helps to decipher the genome heterogeneity within a cell population and facilitates the analysis of trace amounts of genetic material, such as is found in human embryos. The mitochondrial genome, although an important part of the genetic composition of eukaryotic cells, is often neglected in single cell genome analysis. A recently developed single cell whole genome amplification method was used, known as multiple annealing and looping based amplification cycles (MALBAC-NGS), for simultaneous analysis of chromosomal and mitochondrial genomes at the single cell level. The platform was validated by a series of technical and biological replicates and used for chromosomal and mitochondrial copy number analysis in 399 in-vitro fertilized embryos from 81 couples. A positive correlation of maternal age with increased mitochondria quantity (β = 0.176, P = 0.001) was observed after adjusting for the impact of cell type. Lower numbers of mitochondria were detected in successfully implanted embryos, although the difference was not significant. It is proposed that MALBAC-NGS could potentially be used for an advanced pre-implantation genetic screening procedure with both chromosomal constitution and mitochondrial copy number being evaluated.
单细胞全基因组测序有助于破译细胞群体内的基因组异质性，并促进对痕量遗传物质（如人类胚胎中的遗传物质）的分析。线粒体基因组虽然是真核细胞遗传组成的重要部分，但在单细胞基因组分析中经常被忽视。最近开发了一种单细胞全基因组扩增方法，称为多次退火和环化扩增循环（MALBAC-NGS），用于在单细胞水平上同时分析染色体和线粒体基因组。该平台通过一系列技术和生物学重复进行了验证，并用于分析 81 对夫妇的 399 个体外受精胚胎的染色体和线粒体拷贝数。在调整细胞类型的影响后，观察到线粒体数量与母亲年龄呈正相关（β=0.176，P=0.001）。尽管差异不显著，但在成功植入的胚胎中检测到的线粒体数量较少。有人提出，MALBAC-NGS 可能被用于先进的植入前遗传筛选程序，同时评估染色体组成和线粒体拷贝数。
