svt exam fev

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    What causes mucoviscidose?

    Mutations in a single gene lead to the disease.

    What is the life expectancy of a person with mucoviscidose?

    Currently around 50 years.

    How does mucoviscidose affect mucus production?

    It causes mucus to become thick and sticky.

    What is the most common mutation in mucoviscidose?

    Deletion of the triplet at position 508.

    How does the CFTR protein relate to mucoviscidose?

    Its malfunction leads to thick mucus in the lungs.

    What distinguishes monogenic diseases from others?

    They are caused by mutations in a single gene.

    What is the role of genetic counseling?

    To assess the risk of genetic diseases in offspring.

    Why are boys more affected by Duchenne muscular dystrophy?

    The gene is located on the X chromosome.

    What is a key characteristic of de novo mutations?

    They occur spontaneously and are not inherited.

    What is the significance of genetic screening at birth?

    It allows early detection and management of genetic diseases.