关于对矮身儿童进行基因检测的国际指南
Andrew Dauber1, Alexander A L Jorge2, Ola Nilsson3
1Division of Endocrinology, Children's National Hospital, Department of Pediatrics, The George Washington University School of Medicine and Health Sciences, Washington, DC, USA.
European journal of endocrinology
|January 16, 2026
概括
基因测序的进步有助于识别儿童矮身的原因. 本指南提供了一种评估方法,包括历史,检查和测试,以确定遗传病因,并讨论遗传测试.
科学领域:
- 儿科内分泌学 儿科内分泌学
- 人类遗传学 人类遗传学
- 临床诊断 临床诊断 临床诊断
背景情况:
- 矮身是一个复杂的疾病,具有多种不同的遗传和非遗传来源.
- 基因测序的近期进展显著改善了对生长障碍的遗传原因的识别.
- 了解矮身的遗传基础对于准确的诊断和管理至关重要.
研究的目的:
- 为评估矮身儿童提供一个全面的指导方针.
- 概述医学史,家族史,体检和诊断工作中的关键因素,以确定遗传病因.
- 根据临床演示提出基因检测算法,并讨论基因测试的含义.
主要方法:
- 审查当前的文献和临床指导方针对评估矮身.
- 开发一种系统的方法,包括医疗,家庭和体检结果.
- 整合放射和实验室调查以确定潜在的遗传原因.
- 基于临床呈现的基因测试算法的建议.
主要成果:
- 确定特定的历史,物理和诊断因素,这些因素增加了矮身的遗传原因的可能性.
- 一个结构化的算法来指导矮身的遗传工作.
- 讨论与基因测试在这个群体中相关的好处和风险.
结论:
- 系统的,以证据为基础的方法对于评估矮身是必不可少的.
- 基因检测在诊断矮身病因方面发挥着至关重要的作用.
- 本指南旨在提高矮身儿童遗传病因的诊断产量.
相关概念视频
Genetic Screens
5.6K
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...
5.6K
Nature and Nurture
22.2K
Many human characteristics, like height, are shaped by both nature—in other words, by our genes—and by nurture, or our environment. For example, chronic stress during childhood inhibits the production of growth hormones and consequently reduces bone growth and height. Scientists estimate that 70-90% of variation in height is due to genetic differences among individuals, and 10-30% of variation in height is due to differences in the environments that individuals experience,...
22.2K
Karyotyping
68.1K
Overview
68.1K
Polygenic Traits
68.9K
When more than one gene is responsible for a given phenotype, the trait is considered polygenic. Human height is a polygenic trait. Studies have uncovered hundreds of loci that influence height, and there are believed to be many more. Due to the high number of genes involved, as well as environmental and nutritional factors, height varies significantly within a given population. The distribution of height forms a bell-shaped curve, with relatively few individuals in the population at the...
68.9K
Behavioral Genetics and Its Designs
1.0K
Behavior genetics explores how genetic inheritance influences human behavior. It focuses on how genes, passed from parents to offspring, contribute to the development of behavioral traits and tendencies. This branch of genetics seeks to understand the complex interplay between inherited genetic factors and environmental influences in shaping our behaviors.
The primary methodologies used in behavior genetics include family studies, twin studies, and adoption studies, each providing unique...
The primary methodologies used in behavior genetics include family studies, twin studies, and adoption studies, each providing unique...
1.0K
What is Genetic Engineering?
79.6K
Overview
79.6K


