What is it?
The “genetic matching” is a study performed on the progenitors and analyzes their genes to identify mutations responsible for recessive diseases and linked to the X chromosome. First an individual screening of each one is made and then the information is crossed to see if there are coincidences in the mutations.
This technique allows for valuable information that will serve to minimize the risk of the future child inheriting a serious disease.
What does it consist of?
The study is carried out using massive sequencing techniques (Next Generation Sequencing – NGS). We study autosomal recessive genetic diseases with greater prevalence.
What does genetic matching allow?
The main goal is to reduce the chances that the future baby will be born with some genetic diseases.
It’s important to understand that almost all people, even if we don’t know, are carriers of genetic mutations. But depending on how we inherit the altered gene, the mutation may go unnoticed or cause a disease.
There are two types of inheritance:
- Autosomal dominant inheritance: when the disease manifests, even if only one altered copy of the gene has been inherited from either the mother or the father.
- Autosomal recessive inheritance: to develop the disease it is necessary to have inherited both altered copies, both the father and the mother.
In the case that only an altered copy of a gene with recessive inheritance has been inherited, the person will not suffer the disease, he will only be a carrier, although he can also transmit the mutation to his offspring.
When two gametes of people who are carriers of the same mutation are fertilized, there is a 25% chance of having a child with that disease.
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