在怀孕早期丢失的序列多样性
Gudny A Arnadottir1, Hakon Jonsson2, Tanja Schlaikjær Hartwig3
1deCODE genetics/Amgen, Reykjavik, Iceland.
Nature
|May 21, 2025
概括
遗传因素有助于早产. 这项研究发现,胎儿的致病性小序列变异导致136例怀孕中约1例怀孕失败,突出显示遗传多样性的丧失.
科学领域:
- 遗传学
- 生殖生物学
- 基因组医学
背景情况:
- 这种错误会导致染色体异常和流产.
- 欧体 (正常染色体数) 流产的遗传原因在很大程度上是未知的.
- 了解早期流产的遗传因素至关重要.
研究的目的:
- 描述早期怀孕损失的序列多样性.
- 调查染色体异常和新突变的遗传起源.
- 确定致病性小序列变异对妊娠损失的贡献.
主要方法:
- 从467个三组中对1007个胎儿样本和934个家长样本进行全基因组测序.
- 对染色体异常的父母和介质起源的分析.
- 评估和约会新突变和小序列变异.
主要成果:
- 在一半的受试者中检测出染色体异常.
- 大约6. 6%的母体新突变发生在姐妹染色体形成之前.
- 怀孕失败的病因小序列变异基因型比成年对照人多三倍.
- 由于胎儿的致病性小序列变异,大约每136个怀孕中就有1个怀孕失败.
结论:
- 致病性小序列变异是早期怀孕流产的重要原因.
- 这项研究揭示了在怀孕初期遗传多样性会有很大损失.
- 需要进一步研究流产的遗传病因.
更多相关视频
10:08Determining the Role of Maternally-Expressed Genes in Early Development with Maternal Crispants
Published on: December 21, 2021
2.1K
11:54Microsatellite DNA Genotyping and Flow Cytometry Ploidy Analyses of Formalin-fixed Paraffin-embedded Hydatidiform Molar Tissues
Published on: October 20, 2019
9.1K
相关概念视频
Nondisjunction
3.7K
Nondisjunction is the failure of homologous chromosomes or sister chromatids to separate correctly and move to the opposite poles of the cells. This produces daughter cells with abnormal chromosome numbers. Nondisjunction is common during anaphase I or anaphase II of meiosis. Mutations in synaptonemal complex proteins that attach homologous chromosomes increase the chances of nondisjunction in anaphase I of meiosis I. In contrast, mutations in topoisomerases and condensins that hold...
3.7K
Genetic Variation
250
Genetic variation is the diversity in DNA sequences found among individuals of the same species. This diversity is crucial for a species' survival because it helps organisms adapt to environmental changes. Genetic variation begins with fertilization, where an egg and sperm cell merge. Each of these cells carries 23 chromosomes, up to 46 in the fertilized egg. Chromosomes are long DNA strands that contain genes, the basic units of heredity.
Genes exist in different versions called alleles,...
Genes exist in different versions called alleles,...
250
Meiosis vs. Mitosis
51.9K
Cell division is necessary for growth and reproduction in organisms. Mitosis aids cell growth and development by dividing somatic cells. In contrast, meiosis causes the division of germ cells and plays an essential role in sexual reproduction. Due to their unique functional requirements, mitosis and meiosis differ from each other in multiple aspects.
Before the start of mitosis and meiosis I, the cell synthesizes DNA, resulting in two homologous copies of each chromosome. DNA synthesis is...
Before the start of mitosis and meiosis I, the cell synthesizes DNA, resulting in two homologous copies of each chromosome. DNA synthesis is...
51.9K
Oogenesis
63.3K
In human women, oogenesis produces one mature egg cell or ovum for every precursor cell that enters meiosis. This process differs in two unique ways from the equivalent procedure of spermatogenesis in males. First, meiotic divisions during oogenesis are asymmetric, meaning that a large oocyte (containing most of the cytoplasm) and minor polar body are produced as a result of meiosis I, and again following meiosis II. Since only oocytes will go on to form embryos if fertilized, this unequal...
63.3K
Fertilization
70.6K
During fertilization, an egg and sperm cell fuse to create a new diploid structure. In humans, the process occurs once the egg has been released from the ovary, and travels into the fallopian tubes. The process requires several key steps: 1) sperm present in the genital tract must locate the egg; 2) once there, sperm need to release enzymes to help them burrow through the protective zona pellucida of the egg; and 3) the membranes of a single sperm cell and egg must fuse, with the sperm...
70.6K
What is Meiosis?
4.2K
Meiosis is the process by which diploid cells divide to produce haploid daughter cells. In humans, each diploid cell contains 46 chromosomes, half from the mother and half from the father. Following meiosis, the resulting haploid eggs or sperm only contain 23 chromosomes; however, each of these chromosomes contains a unique combination of parental information that results from the meiotic process of crossing over.
Although meiosis shares similarities with mitosis—both rely on microtubules...
Although meiosis shares similarities with mitosis—both rely on microtubules...
4.2K
