在对高风险家庭的载体查中应用全外体序列测序,没有试验组
Qinlin Huang1, Zhongjie Wang1, Yanling Teng1
1Center for Medical Genetics, Hunan Key Laboratory of Medical Genetics, MOE Key Lab of Rare Pediatric Diseases, School of Life Sciences, Central South University, Changsha, China.
Frontiers in genetics
|July 9, 2024
概括
整体外基因组测序 (WES) 可以有效地识别高风险家庭的遗传原因,而无需试验. 这种载体查有助于指导有风险的夫妇,预防出生缺陷和改善生殖结果.
科学领域:
- 遗传学 遗传学 是一个
- 生殖医学 生殖医学
- 基因组医学是基因组医学.
背景情况:
- 高风险家庭往往缺乏试验仪,使遗传诊断复杂化.
- 负面的怀孕史,血缘关系和遗传疾病的家族史增加了对遗传查的需求.
研究的目的:
- 在高风险家庭中使用整体外基因组测序 (WES) 选遗传病因.
- 为了在家庭中识别携带者,并为有风险的夫妇提供有针对性的生育指导.
主要方法:
- 整体外基因组测序 (WES) 在128名来自高风险家庭的个人身上进行.
- 用ACMG标准分析候选变体,以确定潜在的载体.
- 具有共同致病基因的风险夫妇 (ARC) 被确定为生殖咨询.
主要成果:
- 总检测率为36.72%,病原性/可能病原性 (P/LP) 变体在47个个体中,不确定的意义 (VUS) 变体在34个个体中.
- 对于有不良怀孕史的夫妇,检测率为34.55%,对于有遗传疾病史或血缘关系的家庭,检测率为50.00%.
- 在同一基因中发现了19个携带P/LP变异的ARC,这表明后代的潜在患病率高达7.42%.
结论:
- 整体外基因组测序 (WES) 作为高风险家庭遗传查的有效工具,即使没有试验.
- 通过WES进行载体查,可以为有风险的夫妇提供精确的生育指导,有助于预防出生缺陷.
更多相关视频
08:22A Novel Strategy Combining Array-CGH, Whole-exome Sequencing and In Utero Electroporation in Rodents to Identify Causative Genes for Brain Malformations
Published on: December 1, 2017
8.6K
11:35Screening for Functional Non-coding Genetic Variants Using Electrophoretic Mobility Shift Assay EMSA and DNA-affinity Precipitation Assay DAPA
Published on: August 21, 2016
13.0K
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
Genetic Screens
4.9K
Genetic screens are tools used to identify genes and mutations responsible for phenotypes of interest. Genetic screens help identify individuals or a group of people at risk of developing genetic diseases and help them with early intervention, targeted therapy, and reproductive options.
Forward genetic screens
Forward or “classical” genetic screens involve creating random mutations in an organism’s DNA using radiation, mutagens, or insertion of additional bases, which...
Forward genetic screens
Forward or “classical” genetic screens involve creating random mutations in an organism’s DNA using radiation, mutagens, or insertion of additional bases, which...
4.9K
