Introduction to Genetics

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

Research output: Chapter in Book/Report/Conference proceedingChapter

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 languageEnglish
Title of host publicationPrimer on the Metabolic Bone Diseases and Disorders of Mineral Metabolism
EditorsJohn 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
PublisherWiley
Chapter42
Pages341-350
ISBN (Electronic)9781119266594
ISBN (Print)9781119266563
DOIs
Publication statusPublished - 3 Oct 2018

Fingerprint

Genetic Testing
Minerals
Inborn Genetic Diseases
Pedigree
Physical Examination
Single Nucleotide Polymorphism
Fetus
Phenotype
Pregnancy
Mutation

Keywords

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

Cite this

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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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 proceedingChapter

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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 https://doi.org/10.1002/9781119266594.ch42