相关实验视频

Updated: Jun 20, 2025

Human Egg Maturity Assessment and Its Clinical Application

Human Egg Maturity Assessment and Its Clinical Application

Published on: August 19, 2019

预测不孕症:卵细胞基因的遗传变异如何影响卵子质量

Leelabati Biswas^1,2,3, Karen Schindler^4,5

¹Department of Genetics, Rutgers University, Piscataway, NJ, USA.

Advances in anatomy, embryology, and cell biology

|July 19, 2024

概括

脊柱相关蛋白质的遗传变异可能导致卵细胞功能障碍和不孕症. 了解卵子中的这些遗传错误对于女性生育能力和生殖健康至关重要.

科学领域:

生殖生物学生殖生物学
人类遗传学人类遗传学
细胞生物学细胞生物学

背景情况:

成功繁殖需要染色体正常的卵子,这取决于卵细胞发育期间精确的染色体分离.
卵细胞,一个关键的细胞骨结构,控制着染色体分离,但对遗传变异敏感.
关联蛋白质中的人类遗传变异与不孕症有关,这突显了对女性生育的重要性.

研究的目的:

在人类遗传变异的背景下,检查哺乳动物卵细胞.
探索患者识别的遗传变异如何影响的发育和功能.
为了将卵细胞轴中的分子变化与不孕症的临床后果联系起来.

主要方法:

对关键的关联基因 (TUBB8,TACC3,CEP120,AURKA,AURKC,AURKB,BUB1B,CDC20) 中的人类遗传变异的分析.
研究特定变异如何扰乱卵细胞螺旋组合和染色体分离.
分子缺陷与临床现象型的相关性,如卵细胞成熟停止和形积分.

主要成果:

与关联基因的患者鉴定变异破坏了卵细胞的形成和功能.
这些干扰会导致各种生殖问题,包括成熟停滞和体积变.
卵细胞轴中的遗传错误对胚胎发育有显著的下游影响.

结论:

卵子是女性生育能力的关键决定因素,对遗传变异非常敏感.
影响状蛋白质的人类遗传变异提供了对不孕不育的分子基础的见解.
了解这些遗传联系对于诊断和潜在治疗生殖功能障碍至关重要.

关键词:

生物标志物生物标志物蛋蛋蛋蛋蛋是什么意思生育能力生育能力生育能力遗传变体的遗传变体基因组学就是基因组学.在试管婴儿受精体外受精.不孕不育不孕不育不孕不育介质变化 (Meiosis) 是一个过程.流产流产流产突变突变是一种突变.卵细胞是卵细胞中的一个.精准医学是一门精准的医学.怀孕怀孕怀孕怀孕生殖生殖的繁殖生殖内分泌学生殖内分泌学生殖医学是一种生殖医学.螺旋的螺旋是一个螺旋.自发流产是一种自发的流产.

更多相关视频

Meiotic Spindle Assessment in Mouse Oocytes by siRNA-mediated Silencing

Meiotic Spindle Assessment in Mouse Oocytes by siRNA-mediated Silencing

Published on: October 11, 2015

Evaluation of the Spindle Assembly Checkpoint Integrity in Mouse Oocytes

Evaluation of the Spindle Assembly Checkpoint Integrity in Mouse Oocytes

Published on: September 13, 2022

相关概念视频

Oogenesis

Oogenesis

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...

Meiosis II

Meiosis II

Meiosis II is the second and final stage of meiosis. It relies on the haploid cells produced during meiosis I, each of which contain only 23 chromosomes—one from each homologous initial pair. Importantly, each chromosome in these cells is composed of two joined copies, and when these cells enter meiosis II, the goal is to separate such sister chromatids using the same microtubule-based network employed in other division processes. The result of meiosis II is two haploid cells, each...

Meiosis vs. Mitosis

Meiosis vs. Mitosis

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...

Nondisjunction

Nondisjunction

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...

Meiosis I

Meiosis I

Meiosis is the division of a diploid cell into haploid cells forming sperm and eggs in animals through differentiation. Meiosis I is the first stage of meiosis, where the genetic recombination of homologous chromosomes and the reduction of the ploidy level by half occurs.
Prophase I is the most extended and complex step of meiosis I characterized by synapsis, chromosome pairing, and recombination of the homologous chromosomes. This process is facilitated by a proteinaceous structure called the...

Genetic Variation

Genetic Variation

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,...