相关实验视频
Updated: May 3, 2026

07:34
FISH for Pre-implantation Genetic Diagnosis
Published on: February 23, 2011
37.0K
儿科基因组测试中的二次发现:土耳其的临床见解
Yasemin Kendir-Demirkol1, Burcu Yeter2
1Department of Pediatric Genetics, University of Health Sciences, Ümraniye Training and Research Hospital, İstanbul, Turkey. dryasminkendir@yahoo.com.
European journal of pediatrics
|August 29, 2025
概括
这项研究在1. 9%的土耳其儿科患者中发现了可行的二次发现,主要与癌症和心血管疾病有关. 这些遗传变异突显了家庭早期诊断和连续查的机会.
科学领域:
- 基因组医学
- 儿童遗传学
- 临床基因组学
背景情况:
- 临床基因组测序的二次发现 (SFs) 显示出超出了主要适应症的医疗可行的风险.
- 在儿童患者中披露SF,特别是成人发病情况,引发了关于自主权和父母决策的伦理问题.
- 儿童特异性SF证据有限,特别是在资源有限的地区,如土耳其,需要特定的数据以进行伦理实施.
研究的目的:
- 在土耳其儿科队列中确定SF的频率,特征和家族影响.
- 解决报告儿童成年风险的伦理和心理问题.
- 为指导基因组医学实施提供年龄和人口特异性数据.
主要方法:
- 对980名土耳其儿科患者的全外体测序数据进行了回顾性分析.
- 基于美国医学遗传学和基因组学学院 (ACMG) SFs v3.2基因列表的SFs审查.
- 根据ACMG/分子病理学协会 (AMP) 的指导方针,报告被归类为致病性 (P) 或可能致病性 (LP) 的变种.
主要成果:
- 在1. 9%的儿科患者中发现了可采取行动的变体.
- 最常见的SF与癌症倾向综合征和心血管疾病有关.
- 大多数确定的变异是遗传的,但只有一个病例的家族史是阳性,这表明传统风险评估存在局限性.
结论:
- 这项研究提供了土耳其儿科人口中ACMG v3.2 SFs的首次全面分析,与全球趋势保持一致,但提供了新的具体数据.
- 鉴定到的遗传变种为儿童和无症状父母通过连续查提供了早期诊断和治疗的机会.
- 在儿科护理中负责任地恢复SF需要平衡临床效益与伦理考虑,以告知基因组查政策,特别是在资源有限的环境中.
相关概念视频
Pharmacokinetics in Pediatric Patients: Drug Metabolism
410
In pediatric care, understanding the nuances of hepatic drug metabolism is crucial, as it significantly differs from that of adults. This divergence is primarily due to the developmental stage of drug-metabolizing enzymes, which affects how medications are processed in the body. In neonates, for instance, the activity of Phase I enzymes—critical for the initial breakdown of drugs—is markedly reduced, functioning at just 20–40% of the levels seen in adults. This reduction poses...
410
Pharmacogenetics of Drug Targets: β₂-Adrenergic Receptors, Apo E, Thymidylate Synthase
81
Genetic polymorphisms in drug targets have emerged as critical determinants of interindividual variability in drug response and toxicity. Pharmacogenomic investigations increasingly focus on identifying these variations to personalize and optimize therapeutic interventions. A drug target may be a receptor, enzyme, or signaling protein involved in pharmacologic responses or disease-related pathways. While early pharmacogenetic studies focused primarily on drug metabolism, current research...
81
Pharmacogenomics: Identification of New Drug Targets
121
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...
121

