深度基因组测序揭示了早期人类胎盘的广泛遗传异质性
Ieva Miceikaite1,2, Christina Fagerberg3,4,5, Charlotte Brasch-Andersen3,4
1Human Genetics Unit, Department of Clinical Research, Faculty of Health Sciences, University of Southern Denmark, Odense, Denmark. imiceikaite@mgh.harvard.edu.
Nature communications
|August 23, 2025
概括
早期的胎盘活检显示广泛的基因突变, 挑战它们作为胎儿代理在产前诊断. 当怀疑胎盘马赛克时,使用胎液进行确认测试至关重要.
科学领域:
- 生殖生物学
- 遗传学
- 产前诊断
背景情况:
- 胎盘活检是一种常见的产前诊断工具,
- 可以导致胎儿和胎盘之间的遗传差异.
- 尽管在产前测序方面取得了进展,但对胎儿与胎盘的基因一致性了解有限.
研究的目的:
- 使用深度基因组测序绘制出发育中的胎盘的突变格局.
- 评估早期胎盘组织与胎儿之间的遗传一致性.
- 评估胎盘遗传异质性对产前诊断的影响.
主要方法:
- 多个胎盘活检部位和发育阶段的深度基因组测序.
- 对小序列变异和克隆进化模式的分析.
- 胎盘遗传资料与胎儿遗传信息的比较.
主要成果:
- 在所有早期的胎盘活检中发现了广泛的胚胎后突变和克隆进化,包括第一季度的样本.
- 观察到不同的非胎儿小序列变异群,表明遗传异质性.
- 在胎盘活检中发现的大部分克隆序列变异具有较低的变异基因频率.
结论:
- 发育中的胎盘表现出显著的空间和时间遗传异质性.
- 由于广泛的突变,胎盘组织可能不是胎儿遗传学的唯一可靠代理.
- 当怀疑胎盘马赛克时,使用羊水进行确认测试是必不可少的,以防止诊断错误和不必要的干预.
更多相关视频
04:17Author Spotlight: Advancing Research Through Single Cell Sequencing and Spatial Histology in Placental Tissues
Published on: September 8, 2023
1.5K
11:54Microsatellite DNA Genotyping and Flow Cytometry Ploidy Analyses of Formalin-fixed Paraffin-embedded Hydatidiform Molar Tissues
Published on: October 20, 2019
9.2K
相关概念视频
Animal Mitochondrial Genetics
8.0K
Among all the organelles in an animal cell, only mitochondria have their own independent genomes. Animal mitochondrial DNA is a double-stranded, closed-circular molecule with around 20,000 base pairs. Mitochondrial DNA is unique in that one of its two strands, the heavy, or H, -strand is guanine rich, whereas the complementary strand is cytosine rich and called the light, or L, -strand. Compared to nuclear DNA, mitochondrial DNA has a very low percentage of non-coding regions and is marked by...
8.0K
Evolutionary Relationships through Genome Comparisons
6.1K
Genome comparison is one of the excellent ways to interpret the evolutionary relationships between organisms. The basic principle of genome comparison is that if two species share a common feature, it is likely encoded by the DNA sequence conserved between both species. The advent of genome sequencing technologies in the late 20th century enabled scientists to understand the concept of conservation of domains between species and helped them to deduce evolutionary relationships across diverse...
6.1K
