儿科内分泌学中的基因组学——遗传疾病和新技术。

Genomics in pediatric endocrinology-genetic disorders and new techniques.

机构信息

Division of Pediatric Endocrinology, Department of Pediatrics DPMSC, University of Udine School of Medicine, Padiglione Petracco, Piazzale S.M. della Misericordia, 33100 Udine, Italy.

出版信息

Pediatr Clin North Am. 2011 Oct;58(5):1061-81, ix. doi: 10.1016/j.pcl.2011.07.001.

DOI:10.1016/j.pcl.2011.07.001

PMID:21981949

Abstract

In the last few years, there have been remarkable advances in the development of new and more sophisticated genetic techniques. These have allowed a better understanding of the molecular mechanisms of genetically determined pediatric endocrine disorders and are paving the way for a radical change in diagnosis and treatment. This article introduces some of these concepts and some of the genetic techniques being used.

摘要

在过去的几年中，新的、更复杂的基因技术取得了显著的进展。这些技术使我们能够更好地理解遗传决定的儿科内分泌疾病的分子机制，并为诊断和治疗的根本改变铺平了道路。本文介绍了其中的一些概念和正在使用的一些基因技术。