鉴定13号和18号三体的甲基化敏感的基于qPCR的NIPT的差异甲基化部位
Ali Najafi1, Erfaneh Dastbaz2, Artin Mehrabani2
1Department of Medical Genetics, School of Medicine, Tehran University of Medical Sciences, Tehran, Iran.
Advanced biomedical research
|February 11, 2026
概括
甲基化敏感定量PCR (MS-qPCR) 提供了一种具有成本效益的方法来检测三位症13和18. 这种方法为昂贵的基于下一代测序 (NGS) 的非侵入性产前检测 (NIPT) 提供了可扩展的替代方案.
科学领域:
- 遗传学 遗传学 是一个
- 分子生物学分子生物学
- 产前诊断 在产前诊断
背景情况:
- 三原体13和18是严重的染色体疾病,与高新生儿死亡率有关.
- 基于下一代测序 (NGS) 的非侵入性产前检测 (NIPT) 可以准确地检测出这些形状,但成本昂贵.
- 对甲基化敏感的定量PCR (MS-qPCR) 是作为一个具有成本效益的NIPT替代品被探索的.
研究的目的:
- 调查MS-qPCR作为一种可行的,经济的方法来检测三位症13和18.
- 为验证差异甲基化位点 (DMSs) 进行三症检测.
- 优化MS-qPCR以提高产前诊断的高效率和可重复性.
主要方法:
- 使用对甲基化敏感的限制酶选择和验证DMS.
- 针对13号和18号染色体的原始体的优化.
- 在取胆样本 (CVS) 和周围血液 (PBL) 的DNA上进行测试.
主要成果:
- 在50个DMS目标中,有22个成功验证了显著的三症/二症比率.
- 实现了最佳的放大效率 (1.85-2.10) 和高的原料特异性/可重复性.
- 鉴定了对甲基化敏感的限制酶,在选择的DMS中具有高的三症/二症比率.
结论:
- MS-qPCR是一种有前途的,可扩展的,具有成本效益的NIPT方法,用于三位症13和18.
- 建议使用母体血中的无细胞DNA (cfDNA) 进行进一步的验证.
- 为了更广泛的适用性,建议将测试扩展到不同人群.
相关概念视频
Phase II Reactions: Methylation Reactions
749
Methylation is a phase II biotransformation process involving the attachment of a methyl group to a substrate. Enzymes known as methyltransferases orchestrate this reaction.
The mechanism of methylation unfolds in two stages. The first stage sees a methyltransferase enzyme facilitating the transfer of a methyl group from S-adenosylmethionine (SAM) to the substrate, forming S-adenosylhomocysteine (SAH). The second stage involves further metabolism of SAH into homocysteine, which can be recycled...
The mechanism of methylation unfolds in two stages. The first stage sees a methyltransferase enzyme facilitating the transfer of a methyl group from S-adenosylmethionine (SAM) to the substrate, forming S-adenosylhomocysteine (SAH). The second stage involves further metabolism of SAH into homocysteine, which can be recycled...
749
Multiple Halogenation of Methyl Ketones: Haloform Reaction
3.0K
A method involving the transformation of methyl ketones to carboxylic acids using excess base and halogen is called the haloform reaction. It begins with the deprotonation of α hydrogen to form an enolate ion which reacts with the electrophilic halogen to give an α-halo ketone. The step continues until all the α protons are substituted to form a trihalomethyl ketone. The resulting molecule is unstable, and in the presence of a hydroxide base, it readily undergoes nucleophilic...
3.0K
Conserved Binding Sites
5.2K
Many proteins’ biological role depends on their interactions with their ligands, small molecules that bind to specific locations on the protein known as ligand-binding sites. Ligand-binding sites are often conserved among homologous proteins as these sites are critical for protein function.
Binding sites are often located in large pockets, and if their location on a protein’s surface is unknown, it can be predicted using various approaches. The energetic method computationally...
Binding sites are often located in large pockets, and if their location on a protein’s surface is unknown, it can be predicted using various approaches. The energetic method computationally...
5.2K
Conserved Binding Sites
2.0K
2.0K
Local Anesthetics: Differential Sensitivity of Nerve Fibers
1.5K
Local anesthetics (LAs) block the sodium channels of nerve trunks, sensory nerve endings, and neuromuscular junctions. Although LAs can block all kinds of nerves, the sensitivity of nerve fibers differs according to nerve types and structures. LAs are known to block myelinated fibers faster than unmyelinated ones. Also, they block pain or sensory neurons at low concentrations without affecting the motor neurons involved in muscle contractions. This helps relieve labor pain without affecting the...
1.5K
Ligand Binding Sites
15.2K
Proteins are dynamic macromolecules that carry out a wide variety of essential processes; however, the activities of most proteins depend on their interactions with other molecules or ions, known as ligands.
Protein-ligand interactions are quite specific; even though numerous potential ligands surround a cellular protein at any given time, only a particular ligand can bind to that protein. Moreover, a ligand binds only to a dedicated area on the surface of the protein, known as the...
Protein-ligand interactions are quite specific; even though numerous potential ligands surround a cellular protein at any given time, only a particular ligand can bind to that protein. Moreover, a ligand binds only to a dedicated area on the surface of the protein, known as the...
15.2K


