Julia had a sibling who died because of a genetic disease as an infant. before having children, she and her husband tobias get genetic testing and counseling. they are unlucky. for the gaa gene, julia has one normal allele and one totally non-functional allele. tobias has one normal allele, and one gaa allele with a single point mutation allowing gaa function at 15%. explain to the parents, what causes the disease? •how is the dna of an offspring with pompe different? what specific function in the body is impaired? •how does having this dna lead to death?

The disease is caused by a random mutation in the gene located on chromosome 17 which is responsible for the synthesis of GAA (acid alpha-glucosidase). It is an enzyme which helps in digesting glycogen to its simpler units.

The mutation or Pompe disease reduces the efficiency of the enzyme due to which glycogen gets accumulated in all parts of the body especially skeletal and heart muscles. It results in the failure of cardiorespiratory functions and infections of the respiratory tract. Consequently, the infant usually dies before the age of 1 year.

The disease is inherited as an autosomal recessive disorder that is, the diseased person must carry two copies of the mutated gene.

can you make it bigger i can't see it