相关实验视频
Updated: Jun 20, 2026

12:31
In Vivo Modeling of the Morbid Human Genome using Danio rerio
Published on: August 24, 2013
20.7K
在越南开发和验证针对de novo自体主导单源性疾病的非侵入性产前检测
Nhi Yen Nguyen1,2, Y-Thanh Lu1,2, Duy-Anh Nguyen3,4
1Medical Genetics Institute, Ho Chi Minh City, 70000, Vietnam.
Personalized medicine
|August 25, 2023
概括
针对单基因遗传疾病的非侵入性产前检测 (NIPT-SGG) 有效地选了25种疾病. 这种安全及及时的产前查方法在高风险怀孕中显示出高准确度.
科学领域:
- 遗传学 遗传学 是一个
- 产前诊断 在产前诊断
- 分子生物学分子生物学
背景情况:
- 自体主导变异导致超过60%的新生儿单基因疾病.
- 针对单基因遗传疾病的非侵入性产前检测 (NIPT-SGG) 提供了成本效益和时间节省,但缺乏广泛应用.
- 单一性疾病占可在产前检测到的遗传疾病的很大一部分.
研究的目的:
- 引入和验证针对单基因遗传疾病 (NIPT-SGG) 的非侵入性产前检测方法.
- 评估NIPT-SGG在检测25种特定单一性疾病方面的有效性.
- 建立NIPT-SGG作为高风险怀孕的可靠产前查选择.
主要方法:
- 利用下一代测序与一个30基因面板为NIPT-SGG.
- 雇佣三组测试以确认通过NIPT-SGG发现的de novo变体.
- 确认了NIPT-SGG结果,并对所有检测到的病例进行了随后的诊断测试.
主要成果:
- 在93例超声波发现的怀孕中,11例胎儿 (11.8%) 被诊断出患有单一性疾病,主要是努南综合征.
- 通过诊断测试验证,NIPT-SGG在识别阳性和阴性病例方面表现出超过99.99%的准确性.
- 报告没有错误的负或错误的阳性结果,表明高诊断精度.
结论:
- NIPT-SGG是一种有效的方法来识别受单一性疾病影响的胎儿.
- 该研究强调NIPT-SGG作为一个有前途,安全和及时的产前查选择.
- 尼普特-SGG为管理具有潜在遗传条件的高风险怀孕提供了宝贵的工具.
相关概念视频
Pedigree Analysis
Overview
Animal Mitochondrial Genetics
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...
Incomplete Dominance
Gregor Mendel's work (1822 - 1884) was primarily focused on pea plants. Through his initial experiments, he determined that every gene in a diploid cell has two variants called alleles inherited from each parent. He suggested that amongst these two alleles, one allele is dominant in character and the other recessive. The combination of alleles determines the phenotype of a gene in an organism.
Pharmacogenomics: Identification of New Drug Targets
Advances in genomics have profoundly influenced drug discovery by increasing both the speed and accuracy of pharmaceutical development. Pharmacogenomics, which examines how genetic variation influences drug response, facilitates the identification of novel therapeutic targets and enables patient stratification for personalized treatment. These strategies contribute to improved drug efficacy, minimized adverse effects, and more efficient clinical trial design.Mapping genetic differences...

