Odds of Transmission

The odds of transmitting Gaucher disease

As you learned in the section “How Gaucher disease is passed on”, in order for a person to be affected with Gaucher disease they need to inherit two mutated glucocerebrosidase genes – one from each patient. Therefore, 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.

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

If two Gaucher carriers have children, there is a 1 in 4 chance that each child born to them will have the disease.

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