先天性肾上腺皮质增生症基因诊断的研究进展  

Advances in genetic diagnosis of congenital adrenocortical hyperplasia

作　　者：李倩芸 晏元龙 LI Qianyun;YAN Yuanlong(Kunming University of Science and Technology,School of Medicine,Kunming,Yunnan,China,650032;Department of Medical Genetics,the Affiliated Hospital of Kunming University of Technology(The First People's Hospital of Yunnan Province),Kunming,Yunnan,China,650032)

机构地区：[1]昆明理工大学医学院,云南昆明650032 [2]昆明理工大学附属医院(云南省第一人民医院)医学遗传科,云南昆明650032

出　　处：《分子诊断与治疗杂志》2025年第1期1-4,共4页Journal of Molecular Diagnostics and Therapy

基　　金：国家自然科学基金(31860303);国家卫生健康委西部孕前优生重点实验室开放课题项目(ZDsys2017002)。

摘　　要：先天性肾上腺皮质增生症是一组常染色体隐性遗传的单基因病,其基因诊断是对患者进行疾病分型和精准治疗的必要依据。然而由于疾病表型的多样性以及不同亚型基因变异的复杂性,先天性肾上腺皮质增生症的基因诊断一直面临着较大的困难。本文综述了先天性肾上腺皮质增生症基因诊断中常见的基因检测技术,分析了各项技术工具在先天性肾上腺皮质增生症诊断上的优势和缺点,探讨了较为有效的基因筛查和基因诊断策略,并推测了该病的基因诊断在未来的技术方向。Genetic diagnosis of congenital adrenocortical hyperplasia,a group of autosomal reces⁃sive monogenic disorders,is crucial for accurately typing the disease and providing precise treatment to patients.However,diagnosing congenital adrenocortical hyperplasia genetically has proven challenging due to the variety of disease phenotypes and the complexity of genetic variants present in different subtypes.In this paper,we will review common genetic testing techniques used for diagnosing congenital adrenocortical hyperplasia,analyze the advantages and disadvantages of each technique,discuss more effective genetic screening and diagnosis strategies,and speculate on the future direction of genetic diagnosis for this disease.

关 键 词：先天性肾上腺皮质增生症 基因诊断 基因检测方法 

分 类 号：R586[医药卫生—内分泌]