在土耳其的南马拉拉地区,ACMG推了来自1600个临床试验的可采取行动的二次发现
Sehime Gulsun Temel1,2, Mustafa Samet Pir3, Cuneyd Yavas4
1Department of Medical Genetics, Faculty of Medicine, Bursa Uludag University, Bursa 16059, Türkiye.
International journal of molecular sciences
|February 13, 2026
概括
这项研究分析了来自土耳其1600个人的临床外基因组测序数据,以根据美国医学遗传学与基因组学学院 (ACMG) 的指导方针确定二次发现 (SF). 研究发现了可操作的遗传变异,强调了在不同人群中需要量身定制的SF报告的必要性.
科学领域:
- 基因组学就是基因组学.
- 医学遗传学 医学遗传学
- 人口健康 人口健康
背景情况:
- 临床基因组测序可以产生与初级遗传检查无关的偶然发现.
- 美国医学遗传学和基因组学学院 (ACMG) 为报告来自81个基因的二次发现 (SF) 提供了指导方针.
- 关于土耳其的SF流行情况存在有限的大规模队列研究.
研究的目的:
- 通过使用临床外基因组测序数据,研究 ACMG SF 变种在土耳其大型队列中的流行率和频谱.
- 在研究人群中识别ClinVar中以前未报告的新型变异.
- 为制定特定人群的SF报告准则提供信息.
主要方法:
- 对来自土耳其各个地区的1600名个体的临床外体序列数据的分析.
- 与ACMG SF基因列表和ClinVar数据库对检测到的变异的评估.
- 结果与现有的土耳其基因组数据库和文献进行比较.
主要成果:
- 在5.375% (86个人) 的队列中检测到二次发现变异.
- 心血管 (30%),癌症 (26%) 和新生儿代谢障碍 (16%) 是最常见的SF类别.
- 在ClinVar中不存在的45个基因中的212个新型变异在226个个体中被确定.
结论:
- 该研究为土耳其人口中ACMG SF流行率建立了基线.
- 调查结果强调了调整SF报告准则的必要性,特别是在具有高血缘关系和有限先前数据的人群中.
- 鉴定新型变异突显了持续基因组数据分析和数据库扩展的重要性.
相关概念视频
Secondary Messengers in Hormone Action
5.5K
Water-soluble hormones cannot cross the plasma membrane, so they rely on protein receptors that span the membrane to trigger intracellular signaling pathways. These pathways then activate second messengers inside the cell, including cAMP or calcium ions.
Many hormones bind to transmembrane G protein-coupled receptors that connect to regulatory G proteins. These G proteins can then activate enzymes such as adenylyl cyclase or phospholipase C. Adenylyl cyclase converts ATP to cAMP, activating...
Many hormones bind to transmembrane G protein-coupled receptors that connect to regulatory G proteins. These G proteins can then activate enzymes such as adenylyl cyclase or phospholipase C. Adenylyl cyclase converts ATP to cAMP, activating...
5.5K
Local Anesthetics: Clinical Application as Intravenous Regional Anesthesia
1.5K
Intravenous regional anesthesia or the Bier block technique is used to anesthetize a specific limb or extremity. It uses exsanguinated or blood-drained vessels to transport local anesthetics or LAs to the peripheral nerve trunks. Lidocaine without vasoconstrictors like epinephrine is most commonly used for this technique. Other drugs used are prilocaine, ropivacaine, and chloroprocaine. Bupivacaine is not recommended for this technique due to its high cardiac toxicity.
One of the advantages of...
One of the advantages of...
1.5K
Secondary Active Transport
138.3K
One example of how cells use the energy contained in electrochemical gradients is demonstrated by glucose transport into cells. The ion vital to this process is sodium (Na+), which is typically present in higher concentrations extracellularly than in the cytosol. Such a concentration difference is due, in part, to the action of an enzyme “pump” embedded in the cellular membrane that actively expels Na+ from a cell. Importantly, as this pump contributes to the high concentration of...
138.3K
Secondary Healthcare System
2.1K
Secondary healthcare is offered by a specialist, generally in hospitals or clinics for patients referred by primary healthcare providers. It occurs when a person has an illness or injury that requires specific medical care. Secondary care is often referred to as acute care. Secondary care can range from uncomplicated care to repair a minor laceration or treat a strep throat infection to more complicated emergent care, such as treating a head injury sustained in an automobile accident. Whatever...
2.1K
Fixed Action Patterns
17.7K
A fixed action pattern (FAP) is a specific, hard-wired sequence of behaviors that occurs in response to an external stimulus, called a sign stimulus. The behavior is “fixed” because it is essentially unchangeable—proceeding similarly across individuals of a species every time it occurs.
17.7K
Finding the Center of Gravity
4.4K
The center of gravity of a body is an imaginary point where the body's total weight is assumed to be concentrated, and the body is perfectly balanced. The center of the mass of a body is a point at which the whole of the mass of the body appears to be concentrated. If the acceleration due to gravity, g, has the same value at all points on a body, its center of gravity is identical to its center of mass. The center of gravity of homogeneous bodies such as a sphere, cube, or rectangular plate...
4.4K


