Introduction to Genetics

Paul J. Newey; Michael P. Whyte; Rajesh V. Thakker

doi:10.1002/9781119266594.ch42

Introduction to Genetics

Paul J. Newey, Michael P. Whyte, Rajesh V. Thakker

Research output: Chapter in Book/Report/Conference proceeding › Chapter

Abstract

Genetic mutations causing Mendelian diseases usually have a large effect, whereas oligogenic or polygenic disorders summate smaller effects, sometimes with contributions from the environment. This chapter briefly reviews mineral metabolism and skeletal diseases with a genetic element underpinning their identification and characterization based on clinical evaluation. It includes a detailed medical history and physical examination, and their mode of inheritance based on appropriate interpretation using genetic testing. Many mineral metabolic and skeletal disorders have a monogenic etiology. Several factors must be considered before requesting genetic testing. These include the phenotype of the patient, the likely mode of inheritance, the potential genetic etiology and availability of additional pedigree members if necessary to aid diagnosis. Single nucleotide polymorphism arrays detect copy number variations as well as genome‐wide genotyping. Prenatal genetic testing is used once pregnancy is established to identify fetuses at risk of genetic disease.

Original language	English
Title of host publication	Primer on the Metabolic Bone Diseases and Disorders of Mineral Metabolism
Editors	John P. Bilezikian, Roger Bouillon, Thomas Clemens, Juliet Compston, Douglas C. Bauer, Peter R. Ebeling, Klaus Engelke, David Goltzman, Theresa Guise, Suzanne M. Beur, Harald Jüppner, Karen Lyons, Laurie McCauley, Michael R. McClung, Paul D. Miller, Socrates E. Papapoulos, G. David Roodman, Clifford J. Rosen, Ego Seeman, Rajesh V. Thakker, Michael P. Whyte, Mone Zaidi
Publisher	Wiley
Chapter	42
Pages	341-350
ISBN (Electronic)	9781119266594
ISBN (Print)	9781119266563
DOIs	https://doi.org/10.1002/9781119266594.ch42
Publication status	Published - 3 Oct 2018

Keywords

copy number variations
genetic etiology
genetic mutations
Mendelian diseases
mineral metabolism
prenatal genetic testing
single nucleotide polymorphism arrays
skeletal diseases

Access to Document

10.1002/9781119266594.ch42

https://onlinelibrary.wiley.com/doi/abs/10.1002/9781119266594.ch42

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Newey, P. J., Whyte, M. P., & Thakker, R. V. (2018). Introduction to Genetics. In J. P. Bilezikian, R. Bouillon, T. Clemens, J. Compston, D. C. Bauer, P. R. Ebeling, K. Engelke, D. Goltzman, T. Guise, S. M. Beur, H. Jüppner, K. Lyons, L. McCauley, M. R. McClung, P. D. Miller, S. E. Papapoulos, G. D. Roodman, C. J. Rosen, E. Seeman, R. V. Thakker, M. P. Whyte, ... M. Zaidi (Eds.), Primer on the Metabolic Bone Diseases and Disorders of Mineral Metabolism (pp. 341-350). Wiley. https://doi.org/10.1002/9781119266594.ch42

Newey, Paul J. ; Whyte, Michael P. ; Thakker, Rajesh V. / Introduction to Genetics. Primer on the Metabolic Bone Diseases and Disorders of Mineral Metabolism. editor / John P. Bilezikian ; Roger Bouillon ; Thomas Clemens ; Juliet Compston ; Douglas C. Bauer ; Peter R. Ebeling ; Klaus Engelke ; David Goltzman ; Theresa Guise ; Suzanne M. Beur ; Harald Jüppner ; Karen Lyons ; Laurie McCauley ; Michael R. McClung ; Paul D. Miller ; Socrates E. Papapoulos ; G. David Roodman ; Clifford J. Rosen ; Ego Seeman ; Rajesh V. Thakker ; Michael P. Whyte ; Mone Zaidi. Wiley, 2018. pp. 341-350

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abstract = "Genetic mutations causing Mendelian diseases usually have a large effect, whereas oligogenic or polygenic disorders summate smaller effects, sometimes with contributions from the environment. This chapter briefly reviews mineral metabolism and skeletal diseases with a genetic element underpinning their identification and characterization based on clinical evaluation. It includes a detailed medical history and physical examination, and their mode of inheritance based on appropriate interpretation using genetic testing. Many mineral metabolic and skeletal disorders have a monogenic etiology. Several factors must be considered before requesting genetic testing. These include the phenotype of the patient, the likely mode of inheritance, the potential genetic etiology and availability of additional pedigree members if necessary to aid diagnosis. Single nucleotide polymorphism arrays detect copy number variations as well as genome‐wide genotyping. Prenatal genetic testing is used once pregnancy is established to identify fetuses at risk of genetic disease.",

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author = "Newey, {Paul J.} and Whyte, {Michael P.} and Thakker, {Rajesh V.}",

year = "2018",

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Newey, PJ, Whyte, MP & Thakker, RV 2018, Introduction to Genetics. in JP Bilezikian, R Bouillon, T Clemens, J Compston, DC Bauer, PR Ebeling, K Engelke, D Goltzman, T Guise, SM Beur, H Jüppner, K Lyons, L McCauley, MR McClung, PD Miller, SE Papapoulos, GD Roodman, CJ Rosen, E Seeman, RV Thakker, MP Whyte & M Zaidi (eds), Primer on the Metabolic Bone Diseases and Disorders of Mineral Metabolism. Wiley, pp. 341-350. https://doi.org/10.1002/9781119266594.ch42

Introduction to Genetics. / Newey, Paul J.; Whyte, Michael P.; Thakker, Rajesh V.
Primer on the Metabolic Bone Diseases and Disorders of Mineral Metabolism. ed. / John P. Bilezikian; Roger Bouillon; Thomas Clemens; Juliet Compston; Douglas C. Bauer; Peter R. Ebeling; Klaus Engelke; David Goltzman; Theresa Guise; Suzanne M. Beur; Harald Jüppner; Karen Lyons; Laurie McCauley; Michael R. McClung; Paul D. Miller; Socrates E. Papapoulos; G. David Roodman; Clifford J. Rosen; Ego Seeman; Rajesh V. Thakker; Michael P. Whyte; Mone Zaidi. Wiley, 2018. p. 341-350.

Research output: Chapter in Book/Report/Conference proceeding › Chapter

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AB - Genetic mutations causing Mendelian diseases usually have a large effect, whereas oligogenic or polygenic disorders summate smaller effects, sometimes with contributions from the environment. This chapter briefly reviews mineral metabolism and skeletal diseases with a genetic element underpinning their identification and characterization based on clinical evaluation. It includes a detailed medical history and physical examination, and their mode of inheritance based on appropriate interpretation using genetic testing. Many mineral metabolic and skeletal disorders have a monogenic etiology. Several factors must be considered before requesting genetic testing. These include the phenotype of the patient, the likely mode of inheritance, the potential genetic etiology and availability of additional pedigree members if necessary to aid diagnosis. Single nucleotide polymorphism arrays detect copy number variations as well as genome‐wide genotyping. Prenatal genetic testing is used once pregnancy is established to identify fetuses at risk of genetic disease.

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Newey PJ, Whyte MP, Thakker RV. Introduction to Genetics. In Bilezikian JP, Bouillon R, Clemens T, Compston J, Bauer DC, Ebeling PR, Engelke K, Goltzman D, Guise T, Beur SM, Jüppner H, Lyons K, McCauley L, McClung MR, Miller PD, Papapoulos SE, Roodman GD, Rosen CJ, Seeman E, Thakker RV, Whyte MP, Zaidi M, editors, Primer on the Metabolic Bone Diseases and Disorders of Mineral Metabolism. Wiley. 2018. p. 341-350 Epub 2018 Sept 28. doi: 10.1002/9781119266594.ch42

Introduction to Genetics

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