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Sex-linked recessive

Contents of this page:

Illustrations

Genetics
Genetics

Alternative Names    Return to top

Inheritance - sex-linked recessive; Genetics - sex-linked recessive; X-linked recessive

Definition    Return to top

Sex-linked diseases are inherited through one of the "sex chromosomes" -- the X or Y chromosomes. Autosomally inherited diseases are inherited through the non-sex chromosomes (autosomes), pairs 1 through 22.

Dominant inheritance occurs when an abnormal gene from one parent is able to cause disease even though the matching gene from the other parent is normal. The abnormal gene dominates.

Recessive inheritance occurs when both matching genes must be abnormal to produce disease. If only one gene in the pair is abnormal, the disease does not show up or is mild. Someone who has one abnormal gene (but no symptoms) is called a carrier. A carrier can pass this abnormal gene to his or her children.

The term "sex-linked recessive" usually refers to X-linked recessive.

See also:

Information    Return to top

X-linked diseases usually occur in males. Males have only one X chromosome. A single recessive gene on that X chromosome will cause the disease.

The Y chromosome is the other half of the XY gene pair in the male. However, the Y chromosome doesn't contain most of the genes of the X chromosome. It therefore doesn't protect the male. This is seen in diseases such as hemophilia and Duchenne muscular dystrophy.

TYPICAL SCENARIOS

For a given birth, if the mother is a carrier (only one abnormal X chromosome) and the father is normal:

If the father has the disease and the mother is normal:

X-LINKED RECESSIVE DISORDERS IN FEMALES

Females can get an X-linked recessive disorder, but this is very rare. An abnormal gene on the X chromosome from each parent would be required, since a female has two X chromosomes. This could occur in the two scenarios below.

For a given birth, if the mother is a carrier and the father has the disease:

If the mother has the disease and the father has the disease:

The odds of either of these two scenarios are so low that X-linked recessive diseases are sometimes referred to as “male only” diseases. However, this is not technically correct.

Female carriers can have a normal X chromosome that is abnormally inactivated. This is called "skewed X-inactivation." These females may have symptoms similar to those of males.

Update Date: 5/15/2008

Updated by: Chad Haldeman-Englert, MD, Division of Human Genetics, Children's Hospital of Philadelphia, Philadelphia, PA. Review provided by VeriMed Healthcare Network. Also reviewed by David Zieve, MD, MHA, Medical Director, A.D.A.M., Inc.

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