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Autosomal recessive

Genetics - autosomal recessive; Inheritance - autosomal recessive

Autosomal recessive is one of several ways that a trait, disorder, or disease can be passed down through families.

An autosomal recessive disorder means two copies of an abnormal gene must be present in order for the disease or trait to develop.

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X-linked recessive genetic defects
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Inheriting a specific disease, condition, or trait depends on the type of chromosome that is affected. The two types are autosomal chromosomes and sex chromosomes. It also depends on whether the trait is dominant or recessive.

A mutation in a gene on one of the first 22 nonsex chromosomes can lead to an autosomal disorder.

Genes come in pairs. One gene in each pair comes from the mother, and the other gene comes from the father. Recessive inheritance means both genes in a pair must be abnormal to cause disease. People with only one defective gene in the pair are called carriers. These people are most often not affected with the condition. However, they can pass the abnormal gene to their children.

CHANCES OF INHERITING A TRAIT

If you are born to parents who carry the same autosomal recessive change (mutation), you have a 1 in 4 chance of inheriting the abnormal gene from both parents and developing the disease. You have a 50% (1 in 2) chance of inheriting one abnormal gene. This would make you a carrier.

In other words, for a child born to a couple who both carry the gene (but do not have signs of disease), the expected outcome for each pregnancy is:

Note: These outcomes do not mean that the children will definitely be carriers or be severely affected.

Related Information

Genes
Chromosome

References

Feero WG, Zazove P, Chen F. Clinical genomics. In: Rakel RE, Rakel DP, eds. Textbook of Family Medicine. 9th ed. Philadelphia, PA: Elsevier Saunders; 2016:chap 43.

Groden J, Gocha AS, Croce CM. Human basic genetics and patterns of inheritance. In: Creasy RK, Resnik R, Iams JD, Lockwood CJ, Moore TR, Greene MF, eds. Creasy and Resnik's Maternal-Fetal Medicine: Principles and Practice. 7th ed. Philadelphia, PA: Elsevier Saunders; 2014:chap 1.

Korf BR. Principles of genetics. In: Goldman L, Schafer AI, eds. Goldman-Cecil Medicine. 25th ed. Philadelphia, PA: Elsevier Saunders; 2016:chap 40.

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Review Date: 1/10/2018  

Reviewed By: Anna C. Edens Hurst, MD, MS, Assistant Professor in Medical Genetics, The University of Alabama at Birmingham, Birmingham, AL. Review provided by VeriMed Healthcare Network. Also reviewed by David Zieve, MD, MHA, Medical Director, Brenda Conaway, Editorial Director, and the A.D.A.M. Editorial team.

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