基因检测在儿童糖尿病中的研究进展及临床评估

doi:10.3969/j.issn.1006⁃5725.2023.02.004

实用医学杂志 ›› 2023, Vol. 39 ›› Issue (2): 148-152.doi: 10.3969/j.issn.1006⁃5725.2023.02.004

基因检测在儿童糖尿病中的研究进展及临床评估

董国庆黄秒陆喜燕

南方医科大学附属深圳妇幼保健院儿童内分泌科（广东深圳518028）

出版日期:2023-01-25 发布日期:2023-01-25
基金资助:
深圳市“三名工程”项目（编号：SZSM201812056）

Progress and clinical evaluation of molecular diagnosis in pediatric diabetes

DONG Guoqing，HUANG Miao，LU Xiyan.

Department of Pediatric Endocrinology，Shenzhen Maternal and Child Healthcare Hospital Affiliated to Southern Medical University，Shenzhen 518028，China

Online:2023-01-25 Published:2023-01-25

摘要/Abstract

摘要：

随着儿童糖尿病的患病率逐年增高及分子诊断技术飞速发展及广泛应用，基因测序在儿童糖尿病中的作用引起人们关注，而其临床准确评估成为了当下的热门及难题。因此，本文回顾了近年来的相关文献资料，就各类儿童糖尿病的遗传学进展、临床基因检测方法选择及应用指征、基因报告临床解读、功能验证作一系统综述。

关键词: 儿童糖尿病, 遗传因素, 报告解读, 分子诊断

Abstract:

With the increasing prevalence of pediatric diabetes and the rapid development and wide appli⁃cation of molecular diagnosis technology，the role of gene sequencing in childhood diabetes has attracted people′s attention，and its accurate clinical evaluation has become a hot and difficult issue at present. Therefore，we re⁃viewed the relevant literature in recent years，and makes a systematic review on the genetic progress，selection and application of clinical gene detection methods，clinical interpretation of gene reports，and functional verification of various types of pediatric diabetes.

Key words:

pediatric diabetes, genetic factors, interpretation of gene report, molecular diagnosis

董国庆黄秒陆喜燕. 基因检测在儿童糖尿病中的研究进展及临床评估[J]. 实用医学杂志, 2023, 39(2): 148-152.

DONG Guoqing, HUANG Miao, LU Xiyan.. Progress and clinical evaluation of molecular diagnosis in pediatric diabetes [J]. The Journal of Practical Medicine, 2023, 39(2): 148-152.

基因检测在儿童糖尿病中的研究进展及临床评估

Progress and clinical evaluation of molecular diagnosis in pediatric diabetes

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