单基因遗传性内分泌代谢病基因诊断的临床应用

Genetic Diagnosis of Monogenic Inherited Endocrine and Metabolic Diseases and Its Clinical Utility

对于遗传性内分泌代谢病的诊断,以往主要依赖临床表型分析和生化检查,同时结合其遗传模式。随着分子生物学技术的发展,相当多的遗传性内分泌代谢病的致病基因相继被报道;同时,越来越多的单基因突变所致的内分泌代谢疾病被发现。本文将概述单基因遗传性内分泌代谢病的基因诊断及其临床应用方面的最新研究进展。

In the past, the diagnosis of inherited endocrine and metabolic diseases largely depended on the clinical manifestations,biochemical examinations and genetic modes. With the development of molecular biology, a lot of genes for the inherited endocrine and metabolic diseases have been reported. Meanwhile, more and more endocrine and metabolic diseases caused by monogenic mutations have been discovered. Herein,we briefly describe the latest advances of the research on the genetic diagnosis of monogenetic inherited endocrine and metabolic diseases and its clinical utility.