Acatalasemia is a rare autosomal recessive condition that results in no expression of the enzyme catalase; however, persons with this condition are usually only mildly affected. The enzyme catalase is found in most organisms and is a protection against oxidative damage, specifically breaking down the highly reactive oxygen species, hydrogen peroxide. Symptoms may include mouth ulcers that disappear with good dental hygiene; with poor dental hygiene, the ulcers can lead to gangrene in the mouth soft tissues. Persons with this condition usually do not know they are affected unless a family member is tested for the mutation. Dejah recently learned that her Uncle Malik had a dental surgery that was complicated by mouth ulcers and gangrenous tissue that had to be removed. The oral surgeon had learned about genetic conditions that affect oral hygiene and recognized that this could be acatalasemia, and ordered genetic testing. Uncle Malik was positive for this recessive condition, having received a mutated allele from each parent. Dejah is scheduled for wisdom teeth extraction and wants to be sure that she will not have complications like her Uncle Malik. What is the probability that Dejah will have this condition? Discuss how you would find this probability, what information is needed, and make predictions based on the different conditions.
Acatalasemia is a rare autosomal recessive condition that results in no expression of the enzyme catalase; however, persons with this condition are usually only mildly affected. The enzyme catalase is found in most organisms and is a protection against oxidative damage, specifically breaking down the highly reactive oxygen species, hydrogen peroxide. Symptoms may include mouth ulcers that disappear with good dental hygiene; with poor dental hygiene, the ulcers can lead to gangrene in the mouth soft tissues.
Persons with this condition usually do not know they are affected unless a family member is tested for the mutation. Dejah recently learned that her Uncle Malik had a dental surgery that was complicated by mouth ulcers and gangrenous tissue that had to be removed. The oral surgeon had learned about genetic conditions that affect oral hygiene and recognized that this could be acatalasemia, and ordered genetic testing. Uncle Malik was positive for this recessive condition, having received a mutated allele from each parent. Dejah is scheduled for wisdom teeth extraction and wants to be sure that she will not have complications like her Uncle Malik.
What is the probability that Dejah will have this condition? Discuss how you would find this probability, what information is needed, and make predictions based on the different conditions.
Autosomal recessive disease is a disease in which both the copies of the gene get mutated.
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