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The Growing Spine pp 15–30Cite as

Genetics

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Abstract

DNA is the blueprint of our human body, and the variations in DNA are the source for the phenotypes of different individuals. With the advancement in the DNA sequencing technologies and the completion of the human HapMap project, we can now better determine the status of risk or causative genetic variants that may lead to the development of disease. Not only can we make use of the technologies to discover every type of DNA variations in the genome, such as single nucleotide polymorphisms and microsatellites, but other variations such as rare alleles and the copy number variations can also be unmasked. These variations may explain some more genetics effects for disease phenotypes and can be used as markers to study the relationship between genotypes and phenotypes. The use of linkage analysis on familial subjects, case-control association studies using population-based subjects on biologically relevant candidate genes or case-control association studies on a genome-wide scale using gene-chip arrays have made mapping of the disease gene possible. Scoliosis is a condition in which the spine becomes deformed and bent abnormally. It affects millions of growing children in the world. The cause is still ill defined. However, it is believed that scoliosis is a complex genetic disorder caused by multiple genes with small effects combined with environmental factors. Candidate-gene and genome-wide association studies using case-control design are the best tools to analyze complex disorders like scoliosis. We believe that with better understanding of human genetics, the cause of scoliosis will likely be elucidated in the not-too-distant future.

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Authors and Affiliations

  1. Department of Orthopaedics and Traumatology, Queen Mary Hospital, 5/F Professorial Block, Queen Mary Hospital, 102 Pokfulam Road, Hong Kong, China

    Kenneth M. C. Cheung MD, FRCS, FHKCOS, FHKAM(ORTH) & Michael To FRCS(Edin), FHKCOS, FHKAM(ORTH)

  2. Department of Pathology, University of Hong Kong, Hong Kong, China

    Daniel W. H. Ho PhD

  3. School of Biomedical Sciences, The University of Hong Kong, Hong Kong, China

    You-Qiang Song PhD

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  1. Kenneth M. C. Cheung MD, FRCS, FHKCOS, FHKAM(ORTH)
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  4. You-Qiang Song PhD
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Correspondence to Kenneth M. C. Cheung MD, FRCS, FHKCOS, FHKAM(ORTH) .

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Editors and Affiliations

  1. San Diego Center for Spinal Disorders Medical Group, Inc., La Jolla, California, USA

    Behrooz A. Akbarnia

  2. Hacettepe University Dept. Orthopedics & Traumatology, Sihhiye, Ankara, Turkey

    Muharrem Yazici

  3. Rainbow Babies & Children's Hospital, Cleveland, Ohio, USA

    George H. Thompson

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© 2016 Springer-Verlag Berlin Heidelberg

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Cheung, K.M.C., To, M., Ho, D.W.H., Song, YQ. (2016). Genetics. In: Akbarnia, B., Yazici, M., Thompson, G. (eds) The Growing Spine. Springer, Berlin, Heidelberg. https://doi.org/10.1007/978-3-662-48284-1_2

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  • DOI: https://doi.org/10.1007/978-3-662-48284-1_2

  • Publisher Name: Springer, Berlin, Heidelberg

  • Print ISBN: 978-3-662-48283-4

  • Online ISBN: 978-3-662-48284-1

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