Abstract
Inborn errors of metabolism (IEMs) are individually rare but collectively common. As more and more genes are cloned and specific disease-causing mutations are identified, the diagnosis of IEMs is becoming increasingly confirmed by mutation analysis. Diagnosis is important not only for treatment and prognosis but also for genetic counselling and prenatal diagnosis in subsequent pregnancies. A wide range of molecular methods is available for the identification of mutations and other DNA variants, most of which are based on the Polymerase Chain Reaction (PCR). In this chapter, we focus on PCR-based methods for the detection of point mutations or small deletions/insertions as these are the most frequent causes of IEMs.
Access this chapter
Tax calculation will be finalised at checkout
Purchases are for personal use only
Similar content being viewed by others
References
Mak CM, Lee HC, Chan AY et al (2013) Inborn errors of metabolism and expanded newborn screening: review and update. Crit Rev Clin Lab Sci 50:142–162
Ezgu F (2016) Inborn errors of metabolism. Adv Clin Chem 73:195–250
Vernon HJ (2015) Inborn errors of metabolism: advances in diagnosis and therapy. JAMA Pediatr 169:778–782
Rinaldo P, Hahn S, Matern D (2004) Clinical biochemical genetics in the twenty-first century. Acta Paediatr Suppl 93:22–26
Kamboj M (2008) Clinical approach to the diagnoses of inborn errors of metabolism. Pediatr Clin N Am 55:1113–1127
Sharma S, Kumar P, Agarwal R et al (2008) Approach to inborn errors of metabolism presenting in the neonate. Indian J Pediatr 75:271–276
Mahdieh N, Rabbani B (2013) An overview of mutation detection methods in genetic disorders. Iran J Pediatr 23:375–388
Van Pelt-Verkuil E, van Belkum A, Hays J (eds) (2008) Principles and technical aspects of PCR amplification. Springer Science, Berlin/Heidelberg, Germany
McPherson MJ, Moller SG (eds) (2007) PCR second edition. The BASICS. Garland Science, New York
Hernandez-Rodriguez P, Gomez A (2012) Polymerase chain reaction: types, utilities and limitations. In: Hernandez-Rodriguez P (ed) Polymerase chain reaction. InTech
Desjardins PR, Conklin DS (2011) Microvolume quantitation of nucleic acids. Curr Protoc Mol Biol 3:3J
Kalendar R, Lee D, Schulman AH (2014) FastPCR software for PCR, in silico PCR, and oligonucleotide assembly and analysis. Methods Mol Biol 1116:271–302
Munshi A (ed) (2012) DNA sequencing–methods and applications. InTech, Rijeka
Thompson JD, Higgins DG, Gibson TJ (1994) CLUSTAL W: improving the sensitivity of progressive multiple sequence alignment through sequence weighting, position-specific gap penalties and weight matrix choice. Nucleic Acids Res 22:4673–4680
Author information
Authors and Affiliations
Corresponding author
Editor information
Editors and Affiliations
Rights and permissions
Copyright information
© 2017 Springer Science+Business Media LLC
About this protocol
Cite this protocol
Vilarinho, L., Nogueira, C. (2017). PCR in the Analysis of Clinical Samples: Prenatal and Postnatal Diagnosis of Inborn Errors of Metabolism. In: Domingues, L. (eds) PCR. Methods in Molecular Biology, vol 1620. Springer, New York, NY. https://doi.org/10.1007/978-1-4939-7060-5_15
Download citation
DOI: https://doi.org/10.1007/978-1-4939-7060-5_15
Published:
Publisher Name: Springer, New York, NY
Print ISBN: 978-1-4939-7059-9
Online ISBN: 978-1-4939-7060-5
eBook Packages: Springer Protocols