Autosomal Recessive Traits and Diseases


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.



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.

Nussbaum RL, McInnes RR and Willard HF (2001) Thompson & Thompson, Genetics in Medicine, 6th edn. Philadelphia: W. B. Saunders Company.

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:

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.

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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. [doi: 10.1038/npg.els.0002013]