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

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。

With the increasing prevalence of pediatric diabetes and the rapid development and wide application 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 reviewed 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.