相关实验视频
Updated: Jul 4, 2025

06:31
Transuterine Fetal Tracheal Occlusion Model in Mice
Published on: February 5, 2021
3.1K
26名患有致命多重先天性合症的胎儿的临床和分子特征
Gozde Tutku Turgut1, Umut Altunoglu1,2, Cagri Gulec1
1Department of Medical Genetics, Istanbul Faculty of Medicine, Istanbul University, Istanbul, Turkey.
Clinical genetics
|January 26, 2024
概括
胎儿严重的多重先天性收缩 (MCC) 与各种遗传原因有关. 这项研究详细介绍了26个胎儿的超声波,临床和遗传发现,确定了导致这些复杂疾病的新型基因变异.
科学领域:
- 医学遗传学 医学遗传学
- 发展生物学 发展生物学
- 产前诊断 在产前诊断
背景情况:
- 多重先天性收缩 (MCC) 代表了一系列与胎儿无动症相关的疾病.
- 严重的表型范围从远端关节缩症到致命的胎儿秋变形序列.
- 了解严重MCC的遗传基础对于诊断和管理至关重要.
研究的目的:
- 为了表征严重的多重先天性收缩 (MCC) 现型.
- 使用先进的分子技术,识别致命MCC的遗传原因.
- 为了将产前超声波发现与死后评估和遗传诊断相关联.
主要方法:
- 对来自18个家庭的26个胎儿进行了详细的产前超声波检查.
- 尸检后的临床评估和病理检查.
- 整体外基因组测序和有针对性的基因测试.
主要成果:
- 常见的产前发现包括异常的面部形状,中枢神经系统异常,多水,额透光度增加和胎儿水.
- 尸体解剖结果显示了形状障碍,骨变化,衣索索,,和肌肉病.
- 在15个家族中发现了14个基因的因果变异;44%的基因变异是新的或新相关的.
结论:
- 严重的MCC表型具有不同的产前和死后表现.
- 基因分析,包括外体测序,对于诊断致命的MCC至关重要.
- 这项研究扩大了已知的严重先天性收缩症的遗传景观.
关键词:
关节形的情况.双重诊断是一种双重的诊断.胎儿无动力症 (英语:Fetal Akinesia) 是一种胎儿无动力症.致命的表型 致命的表型分子遗传学分子遗传学多重先天性合症 (多重先天性合症)在产前诊断 产前诊断整体外基因组测序的测序更多相关视频
相关概念视频
Teratogenicity
2.5K
The ability of a drug to produce structural deformations and functional abnormalities in the developing embryo or the fetus is called teratogenicity, and the drug producing this effect is known as a teratogen. Teratogenic effects include stillbirth, miscarriage, intrauterine growth restriction, and neurocognitive delay. A teratogen may affect the embryo at different stages of development, which is important in determining the type and extent of the damage. During blastocyst formation, the early...
2.5K
Lethal Alleles
15.4K
Agouti: A Lethal Allele
Lucien Cuénot discovered lethal alleles in 1905 while studying the inheritance of coat color in mice. The agouti gene is responsible for the color of the coat in mice. This gene codes for an agouti-signaling protein, which is responsible for melanin distribution in mammals. The wild-type allele gives rise to gray-brown coat color in mice, while the mutant allele gives rise to yellow coat color. In addition to coat color, the agouti gene is associated with the yellow...
Lucien Cuénot discovered lethal alleles in 1905 while studying the inheritance of coat color in mice. The agouti gene is responsible for the color of the coat in mice. This gene codes for an agouti-signaling protein, which is responsible for melanin distribution in mammals. The wild-type allele gives rise to gray-brown coat color in mice, while the mutant allele gives rise to yellow coat color. In addition to coat color, the agouti gene is associated with the yellow...
15.4K

