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Fundamentals of Genetics

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Albert and Jakobiec's Principles and Practice of Ophthalmology

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Abstract

Genes are the fundamental units used in the study of inherited traits or diseases. In more recent years, genes have been defined on the basis of the encoded protein product or a functional RNA molecule, irrespective of any phenotypes known to be associated with variations or mutations. A gene is determined by the particular order of bases within a specified region in a molecule of DNA. Obtaining the complete sequence of the human genome within the first decade of the twenty-first century was one of the initial goals of the Human Genome Project. The first draft of the complete human genome sequence was obtained in 2001; however, assembling the complete human genome sequence proved to be a challenge that occupies researchers to this day. A notable discovery that emerged after completion of the Human Genome Project was that there are less genes ( ~20,000) than originally expected ( ~100,000). The major types of inheritance of human disease are: dominant, recessive, X-linked, mitochondrial (also called maternal), digenic, and polygenic. Of these, the first four are discussed in this chapter in the context of ocular disease. Different types of genetic variation and current practices of genetic testing are described.

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Authors and Affiliations

  1. Mass Eye and Ear, Harvard Medical School, Boston, MA, USA

    Kinga M. Bujakowska

  2. David Glendenning Cogan Laboratory of Ophthalmic Pathology, Harvard Medical School, Boston, MA, USA

    Thaddeus P. Dryja

Authors
  1. Kinga M. Bujakowska
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  2. Thaddeus P. Dryja
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Correspondence to Kinga M. Bujakowska .

Editor information

Editors and Affiliations

  1. Department of Ophthalmology, Oregon Health & Science University Department of Ophthalmology, Portland, OR, USA

    Daniel Albert

  2. Massachusetts Eye and Ear, Boston, MA, USA

    Joan Miller

  3. Department of Ophthalmology, University of Illinois at Chicago Department of Ophthalmology, Chicago, IL, USA

    Dimitri Azar

  4. Department of Ophthalmology, Harvard Medical School, Boston, MA, USA

    Lucy H. Young

Section Editor information

  1. Massachusetts Eye and Ear, Boston, USA

    Jason Comander

  2. Massachusetts Eye and Ear, Boston, USA

    Luk Vandenberghe

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Bujakowska, K.M., Dryja, T.P. (2021). Fundamentals of Genetics. In: Albert, D., Miller, J., Azar, D., Young, L.H. (eds) Albert and Jakobiec's Principles and Practice of Ophthalmology. Springer, Cham. https://doi.org/10.1007/978-3-319-90495-5_146-1

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