genetico (1)

Studies of recessive diseases

Usedif there are alterations in certain genes. Used for people who will provide the eggs or sperm, and that could affect their future children.

Why is it important to know if both people in a couple are carriers?

If two people are carriers of the same altered gene, they have a 25% chance of having a child affected by that disease.
If only one member of the couple is a carrier of one copy of an altered gene for a recessive disease, the probability that the child is a carrier is 50% and the probability that he or she doesn’t have symptoms for that disease is 100%.

If any alteration is found during these studies, it will be advisable to consult the geneticist and also, in some cases, carry out the pre-implantation study of the embryos, in order to select those that do not present the chromosomal or genetic problem diagnosed.

Genetic recessive diseases are those that are triggered when a person has both copies (alleles) of the same altered (mutated) gene

What does it mean to be a carrier?

An individual who carries a single copy of an altered gene in its genome (which he or she may have received from its mother or father) and who does not manifest the disease is called a carrier.

It is normal for people to carry at least one mutation associated with a recessive genetic disease. Therefore, these mutations or copies of altered genes are silently transmitted within a family from generation to generation and, in many cases, are only discovered when a couple has a child who manifests it.