1. The Relevance of Molecular Biology to Clinical Practice
Published Online: 23 FEB 2012
Copyright © 2012 John Wiley & Sons, Ltd.
Handbook of Clinical Pediatric Endocrinology, Second Edition
How to Cite
Brook, C. G. D. and Dattani, M. T. (2012) The Relevance of Molecular Biology to Clinical Practice, in Handbook of Clinical Pediatric Endocrinology, Second Edition, Wiley-Blackwell, Oxford, UK. doi: 10.1002/9781119968153.ch1
- Published Online: 23 FEB 2012
- Published Print: 13 APR 2012
Print ISBN: 9780470657881
Online ISBN: 9781119968153
- application of molecular biology to diagnosis and treatment of endocrine disease;
An understanding of molecular biology is now essential to clinical practice, especially in pediatric endocrinology. This chapter unravels genomics, proteomics, metabolomics, and pharmacogenomics. It explains the integration of data generated by transcriptomic, proteomic, epigenomic and metabolomic analyses through informatics and the application of molecular biology to diagnosis and treatment.
The inheritance of genetic disorders in humans may be mendelian or more complex. The human genome contains around 30,000–40,000 genes; its complexity is increased by the use of alternative promoters, epigenetic phenomena and alternative splicing. Further complexity is imparted by disorders of imprinting, mitochondrial disorders, mosaicism, digenic/oligogenic inheritance, sex-influenced phenotypes and variability of penetrance and expressivity. The chapter simplifies what sounds extremely complicated.