Autosomal Recessive Traits and Diseases

Ahmad S Teebi, The Hospital for Sick Children, University of Toronto, Toronto, Canada
Shelley J Kennedy, The Hospital for Sick Children, University of Toronto, Toronto, Canada

Published online: January 2006

DOI: 10.1038/npg.els.0002013

Autosomal recessive traits and diseases comprise a large sector of genetically determined phenotypes. They result from homozygosity or compound heterozygosity of a mutant gene. Variable frequencies are seen in different populations where consanguinity may play an important role.

Keywords: autosomal recessive; carrier; consanguinity; founder effect; heterozygosity; homozygosity

Figure 1. Male karyotype, 46, XY.
Figure 2. Observed genotypes in autosomal recessive inheritance.
Figure 3. Autosomal recessive inheritance. In this example, both parents are carriers of a nonworking gene. The small ‘r’ represents the nonworking gene and the capital ‘R’ represents the working gene. The parents do not have any disease symptoms, but there is a 1 in 4 (25%) chance that they have a child with the condition.
Figure 4. A typical pedigree demonstrating autosomal recessive inheritance. Note that the affected individuals are both male and female, occur in a single generation and are part of the same sibship.
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 References
    book Teebi AS and Farag TI (1997) Genetic Disorders Among Arab Populations. New York: Oxford University Press.
 Further Reading
    Cystic Fibrosis Genotype Phenotype Consortium (1993) Correlation between genotype and phenotype in patients with cystic fibrosis. New England Journal of Medicine 329(18): 1308–1313.
    Chillon M, Casals T, Mercier B et al. (1995) Mutations in the cystic fibrosis gene in patients with congenital absence of the vas deferens. New England Journal of Medicine 332: 1475–1480.
    Gahres EE (1952) Tongue rolling and tongue folding and other hereditary movements of the tongue. Journal of Heredity 43: 221–225.
    Lai LYC and Walsh RJ (1966) Observations on ear lobe types. Acta Genetica Statistica Medica 16: 250–257.
    book Nussbaum RL, McInnes RR and Willard HF (2001) Thompson & Thompson, Genetics in Medicine, 6th edn. Philadelphia: W. B. Saunders Company.
    ePath Online Mendelian Inheritance in Man, OMIM (TM) (2000). McKusick-Nathans Institute for Genetic Medicine Johns Hopkins University, Baltimore, MD and National Center for Biotechnology Information, National Library of Medicine (Bethesda, MD). World Wide Web URL: http://www.ncbi.nlm.nih.gov/omim/.
    Steinberg MH (1999) Management of sickle cell disease. New England Journal of Medicine 340: 1021–1030.
    Teebi AS (1994) Autosomal recessive disorders among Arabs: an overview from Kuwait. Journal of Medical Genetics 31(3): 224–233.
    Zielinski J (2000) Genotype and phenotype in cystic fibrosis. Respiration 67: 117–133.

Related Sub-Topics:

General Genetics and Disease
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Article Title: Autosomal Recessive Traits and Diseases
 
How to Cite close
Teebi, Ahmad S, and Kennedy, Shelley J(Jan 2006) Autosomal Recessive Traits and Diseases. In: eLS. John Wiley & Sons Ltd, Chichester. http://www.els.net [doi: 10.1038/npg.els.0002013]