新型STAG3变种会导致高精子形积分率的小精子形积分症 (oligoasthenoteratozoospermia)
Polina N Tsabai1, Nadezhda S Pavlova2, Taras V Shatylko3
1Department of Clinical Genetics, Institute of Reproductive Genetics, National Medical Research Center for Obstetrics, Gynecology and Perinatology Named After Academician V.I. Kulakov, Ministry of Health of Russia, 4 Acad. Oparin St., Moscow, Russian Federation, 117997. polinatsabai@gmail.com.
Journal of assisted reproduction and genetics
|February 11, 2025
概括
在STAG3基因的遗传变异与家庭中的不孕症有关,导致过早的卵巢缺陷 (POI) 和橄亚斯诺太子精子缺陷 (OAT). 这项研究确定了新的STAG3变异,有助于这些严重的生殖障碍.
科学领域:
- 遗传学 是一个遗传学.
- 生殖生物学 生殖生物学
- 分子生物学分子生物学
背景情况:
- 过早卵巢衰竭 (POI) 和非阻塞性精子缺血症 (NOA) 是严重的不孕症形式.
- 遗传因素可以在受影响的兄弟姐妹中引起POI和NOA.
- 已知STAG3基因变异会导致联合不孕症疾病.
研究的目的:
- 为了调查一家人内的oligoasthenoteratozoospermia (OAT) 和POI的遗传原因.
- 识别与联合不孕症表型相关的新型遗传变异.
主要方法:
- 在受影响的家庭成员身上进行了整体外体序列 (WES) 测序.
- 桑格测序用于确认已识别的变异.
- 光在位杂交 (FISH) 试验评估了精子形积分率.
主要成果:
- 在STAG3基因 (p.Arg926Ter和p.Glu1184Ter) 中发现了两种可能的致病性异构卵性截断变异.
- 试验对象 (女性) 和她的兄弟 (男性) 是这些STAG3变体的复合异构体.
- 在患有OAT的男性患者中观察到高的精子动积分率.
结论:
- 已识别的STAG3变异与OAT综合征和POI有关.
- 本报告描述了STAG3相关不孕症的第三个家族病例.
- STAG3基因突变是男性和女性结合不孕症的重要原因.
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
Infertility in Males
235
Male infertility affects millions of couples worldwide, arising from various factors that impact different stages of the reproductive process. An endocrine imbalance resulting from conditions like hypogonadism, Klinefelter syndrome, or pituitary disorders can disrupt hormone levels and reduce sperm production. Testicular defects, such as tumors, cryptorchidism, atrophic testes, abnormal sperm morphology, and low sperm count or motility, may arise due to genetic factors, structural...
235
Sex-linked Disorders
100.0K
Like autosomes, sex chromosomes contain a variety of genes necessary for normal body function. When a mutation in one of these genes results in biological deficits, the disorder is considered sex-linked.
100.0K
Meiosis II
182.6K
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...
182.6K
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


