使用整体外体序列测序发现与异常性复发性妊娠损失相关的致病变体
Jeong Yong Lee1, JaeWoo Moon2, Hae-Jin Hu2
1Department of Biomedical Science, College of Life Science, CHA University, Seongnam 13488, Republic of Korea.
International journal of molecular sciences
|May 25, 2024
概括
遗传变异可能导致重复流产 (RPL). 整体外因子测序确定了9个基因中的10个潜在变异,其中一些仅在患者中发现,这表明在RPL病因学中发挥了作用.
科学领域:
- 遗传学 是一个遗传学.
- 生殖医学 生殖医学
- 生物信息学是一种生物信息学.
背景情况:
- 异常性复发性怀孕丧失 (RPL) 影响约5%的夫妇,原因多元,包括遗传因素.
- 导致流产的精确生物机制在很大程度上是未知的.
研究的目的:
- 使用整体外体序列 (WES) 识别与异常性复发性妊娠损失 (RPL) 相关的潜在遗传变异.
- 探索将WES与机器学习相结合用于RPL变种检测的实用性.
主要方法:
- 在56名韩国RPL患者和40名对照患者身上进行了全外体测序 (WES).
- 生物信息分析和机器学习工具被用于识别和预测变种的病原性.
- 桑格测序证实了已识别的变异,并对112名患者和114名对照进行了复制研究.
主要成果:
- 在RPL患者中检测到9个基因中的10个潜在变异,这些变异先前与自发性流产有关.
- 在复制过程中,仅在患者组中发现了几个变异,包括MUC4,HABP2和GAS2L2.
- 检测到的基因的功能聚类表明它们在分泌,细胞突起和细胞骨维护中的作用.
结论:
- 结合WES和机器学习,可以有效地识别潜在的RPL相关变体.
- 像HABP2,MUC4和GAS2L2这样的基因中的特定变异可能在RPL.的发病过程中发挥作用.
- 进一步分析WES数据对于全面了解RPL原因至关重要.
相关概念视频
Genome-wide Association Studies-GWAS
13.3K
Genome-wide association studies or GWAS are used to identify whether common SNPs are associated with certain diseases. Suppose specific SNPs are more frequently observed in individuals with a particular disease than those without the disease. In that case, those SNPs are said to be associated with the disease. Chi-square analysis is performed to check the probability of the allele likely to be associated with the disease.
GWAS does not require the identification of the target gene involved in...
GWAS does not require the identification of the target gene involved in...
13.3K
Single Nucleotide Polymorphisms-SNPs
15.0K
A single nucleotide polymorphism or SNP is a single nucleotide variation at a specific genomic position in a large population. It is the most prevalent type of sequence variation found in the human genome. Point mutations that occur in more than 1% of the population qualify as SNPs. These are present once every 1000 nucleotides on an average in the human genome. Replacement of a purine with another purine (A/G) or a pyrimidine with another pyrimidine (C/T) is known as a transition. In contrast,...
15.0K
Next-generation Sequencing
88.7K
The first human genome sequencing project cost $2.7 billion and was declared complete in 2003, after 15 years of international cooperation and collaboration between several research teams and funding agencies. Today, with the advent of next-generation sequencing technologies, the cost and time of sequencing a human genome have dropped over 100 fold.
Next-Generation Sequencing Methods
Although all next-generation methods use different technologies, they all share a set of standard features....
Next-Generation Sequencing Methods
Although all next-generation methods use different technologies, they all share a set of standard features....
88.7K


