摘要
随着高通量二代测序(NGS)技术的不断完善, 其在临床的应用和研究逐渐普及, 越来越多的眼科医生及医疗机构开始应用该项技术进行单基因遗传眼病的筛查及分子诊断和遗传学研究, 并已逐渐成为单基因遗传眼病患者疾病诊疗过程中必不可少的检测项目, 而如何专业性解读这些变异是这个环节中的关键。NGS可检测出大量的变异数据, 如果没有严格的标准将致病序列变异与人类基因组中存在的许多潜在功能变异区分开来, 可能会加速出现因果关系的假阳性判断, 阻碍基因诊断在临床诊疗中的应用和推广及对疾病的生物学理解。美国医学遗传学与基因组学学会编写和发布了《遗传变异分类标准与指南》, 中国遗传学会遗传咨询分会组织多位遗传咨询领域专家共同编译了该指南的中文版, 是帮助我们解读遗传变异的参考依据之一。本文将对该指南进行解读, 以期为中国眼科医生对遗传变异的分类、致病变异的确定、临床诊断中的应用及相关遗传研究提供参考。
Sequencing technology has evolved rapidly with the advent of high-throughput next-generation sequencing(NGS).By adopting NGS,more and more ophthalmologists and medical institutions are now performing genetic testing for molecular diagnosis and genetic research in genetic ocular disorders.Genetic testing has gradually become an indispensable test item in the diagnosis and treatment of patients with monogenetic ocular diseases and has been accompanied by new challenges in sequence interpretation due to increased complexity.As we know,NGS can detect a large number of the genetic variation data.Without strict standards to distinguish pathogenic variation from many potential functional variations in the human genome,false positive judgments of causality may be accelerated,which may hind the application and promotion of genetic diagnosis in clinical diagnosis as well as the biological understanding of diseases.The American College of Medical Genetics and Genomics(ACMG)has developed guidances for the interpretation of sequence variants and the Chinese Branch of Genetic Counseling has organized some experts in the field of genetic compiled the Chinese version of the ACMG Standards and Guidelines,which is one of the reference bases to help us interpret genetic variation.This article interpreted the ACMG Standards and Guidelines in order to provide reference for Chinese ophthalmologists in the classification of genetic variation,determination of pathogenic variation,application in clinical diagnosis and related genetic research.
作者
盛迅伦
Sheng Xunlun(Gansu Aier Ophthalmology and Optometry Hospital,Lanzhou 730050,China)
出处
《中华实验眼科杂志》
CAS
CSCD
北大核心
2023年第9期898-903,共6页
Chinese Journal Of Experimental Ophthalmology
基金
国家自然科学基金项目(82060183)
爱尔眼科研究所自主研发项目(LCER1-003)。
关键词
遗传性眼病
遗传变异
分类标准
临床指南
解读
Hereditary eye disease
Genetic variation
Classification standard
Clinical guideline
Interpretation
