Mendelian Genetic Disorders

Martin Alexander Kennedy, University of Otago, Christchurch, New Zealand

Published online: September 2005

DOI: 10.1038/npg.els.0003934

Mendelian disorders occur in families with a pattern that reflects the inheritance of a single causative gene. Studies of families with conditions such as cystic fibrosis, Huntington disease and fragile X syndrome reveal a variety of inheritance patterns that reflect the nature of the underlying gene and the causative genetic lesion.

Keywords: familial disease; pedigree analysis; autosomal recessive; autosomal dominant; X-linked

Figure 1. Pedigree symbols. A subset of symbols commonly used to illustrate a family tree, incorporating clinical details and the nature of specific relationships.
Figure 2. Inheritance patterns of mendelian disorders: (a) autosomal recessive, (b) autosomal dominant and (c) X-linked recessive.
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 Further Reading
    book Connor M and Ferguson-Smith M (1997) Essential Medical Genetics, 5th edn. Oxford: Blackwell Science.
    book Gelehrter TD, Collins FS and Ginsburg D (1998) Principles of Medical Genetics, 2nd edn. Baltimore: Williams and Wilkins.
    book Kingston HM (1997) ABC of Clinical Genetics, 2nd edn. London: BMJ Publishing.
    ePath Mendel Web [http://www.mendelweb.org/].
    ePath Online Mendelian Inheritance in Man (OMIM™) (2000) [http://www.ncbi.nlm.nih.gov/entrez/query.fcgi?db=OMIM].
    book Vogel F and Motulsky AG (1996) Human Genetics: Problems and Approaches, 3rd edn. Berlin: Springer-Verlag.

Related Sub-Topics:

Gene and Genome Structure and Organisation | Statistical Methodology in Genetics | General Genetics and Disease
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Article Title: Mendelian Genetic Disorders
 
How to Cite close
Kennedy, Martin Alexander(Sep 2005) Mendelian Genetic Disorders. In: eLS. John Wiley & Sons Ltd, Chichester. http://www.els.net [doi: 10.1038/npg.els.0003934]