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Disease-causing mutations in the human genome

Authors
  • Antonarakis, Stylianos E.1
  • Krawczak, Michael2
  • Cooper, David N.2
  • 1 Division of Medical Genetics, University of Geneva Medical School, 1 rue Michel-Servet, 1211 Geneva, Switzerland e-mail: [email protected] Tel.: +41-22-7025708; Fax: +41-22-7025706, CH
  • 2 Institute of Medical Genetics, University of Wales College of Medicine, Cardiff, UK, GB
Type
Published Article
Journal
European Journal of Pediatrics
Publisher
Springer-Verlag
Publication Date
Dec 01, 2000
Volume
159
Issue
Suppl 3
Identifiers
DOI: 10.1007/PL00014395
Source
Springer Nature
Keywords
License
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Abstract

A considerable number of gene mutations has now been reported in a total of more than 1000 different human genes. Data on these mutations and their associated phenotypes have been collated and are available online through two major databases: Online Mendelian Inheritance in Man in Baltimore and the Human Gene Mutation Database in Cardiff. Since the non-randomness of mutation is determined largely by the local DNA sequence environment, the study of mutation may not only yield information on underlying mechanisms but also lead to the optimization of mutation search strategies. Conclusion There is a high frequency of CG to TG or CA mutations in the human genome due to deamination of 5′methyl-cytosine. The second most common type of mutations in human disorders is short deletions or insertions of less than 20 nucleotides.

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