摘要
近年来,随着基因工程技术以及生化分析技术在临床上的广泛应用,遗传代谢病(Inherited Metabolic Diseases,IMD)诊治方法得到了彻底改变,基因诊断通过检测DNA碱基序列或表达水平变化作出诊断,使得国内IMD的疾病谱日益广泛。然而目前我国IMD诊断率仍然不理想,平均只有约30%的患者得到了明确的分子诊断。IMD的诊断是防治的基础,在此,本文围绕目前我国常用基因测序技术的现状和临床分子诊断的应用前景做出述评。
With the wide application of genetic engineering technology and biochemical analysis technology in clinical practice,the diagnoses and treatment of Inherited Metabolic Diseases(IMD)has been changed completely.Gene sequencing makes a diagnosis by detecting changes in DNA base sequence or expression levels,which makes the disease spectrum of IMD in China increasingly extensive.However,despite the trend towards gene sequencing,diagnostic rates remain suboptimal.Only 30%of patients receive a molecular diagnosis.The diagnosis of IMD is the basis of prevention and treatment.Therefore,we make a review about the current situation of common gene sequencing technology and the application prospect of clinical molecular diagnosis in China.
作者
李燕
米热古丽·买买提
LI Yan;MAIMAITI Mireguli(The First Affiliated Hospital of Xinjiang Medical University,Xinjiang Uygur Autonomous Region,Urumqi,830011)
出处
《中国优生与遗传杂志》
2020年第5期529-532,共4页
Chinese Journal of Birth Health & Heredity
基金
国家自然科学基金委员会地区科学基金项目(No.81360139)
关键词
遗传代谢病
分子生物学
基因检测
高通量测序技术
Inherited Metabolic Diseases
Molecular biology
Gene sequencing
High throughput sequencing
作者简介
通讯作者:米热古丽·买买提
