The genetic blueprint

Genes form the blueprint of heredity. They help guide our body’s growth and development and determine traits such as eye color and height. People inherit two copies of every gene, one from each parent.

How Gaucher disease is passed on

The gene that controls the production of the enzyme called glucocerebrosidase is passed from parent to child. In people with Gaucher disease, this gene is abnormal, or mutated, and insufficient quantity of the enzyme is produced or available enzyme does not function properly.

Gaucher disease is referred to as an autosomal recessive disorder. A person develops Gaucher disease by inheriting two mutated Gaucher genes (one from each parent). When only one Gaucher gene is passed to a person, he or she will not develop Gaucher disease, but will become a carrier. A carrier can pass a mutated Gaucher gene to his or her children.

The odds of transmitting Gaucher disease

With each pregnancy, each carrier has a 50% chance of passing along a mutated gene. When both parents are carriers, there is a 25% chance their child will inherit two mutated genes and will develop Gaucher disease.

These the two diagrams below show how the Gaucher gene may be passed from one generation to the next.

Genetic testing and counseling

Blood tests are available to detect the presence of the mutated Gaucher gene. Interested couples may use such a test to determine their specific likelihood of having a child affected by Gaucher disease. Genetic counseling for families with Gaucher disease may help affected individuals address the complex social and reproductive issues they may face.

The Ashkenazi connection

Among individuals of Eastern European (or Ashkenazi) Jewish descent, incidence of Type 1 Gaucher disease is considerably higher (as many as 1 in 450 people) than in the general population (1 in 40,000-60,000). Approximately 1 in every 12 to 15 Ashkenazi people is a carrier. As a result, genetic counseling and/or carrier testing for Gaucher disease may be appropriate for people of Ashkenazi descent to help determine risk and reproductive choices.

Facts About Genetic Diseases Ashkenazi Jewish Descent (PDF)

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