Answer to Question #196541 in Human Anatomy and Physiology for Jomar

Question

1.If the gene responsible for the sickle cell disease is recessive, what does this mean?

2.Explain the concept of aneuploidy. Use 2 examples to aid your explanation

3.Give an example of 2 known mutations and 2 known point mutations that cause specific diseases. Explain how these mutations develop the illness.

thank you

Answer 1

1.Sickle cell anemia is inherited in an autosomal recessive pattern, which means that both copies of the gene in each cell have mutations. The parents of an individual with an autosomal recessive condition each carry one copy of the mutated gene, but they typically do not show signs and symptoms of the condition.

2.Aneuploidy is the presence of an abnormal number of chromosomes in a cell, for example a human cell having 45 or 47 chromosomes instead of the usual 46. It does not include a difference of one or more complete sets of chromosomes.

3 Known Mutations

Cystic fibrosis, sickle cell anemia

known point mutations

deletions, insertions, and substitutions.

By changing a gene's instructions for making a protein, a variant can cause a protein to malfunction or to not be produced at all. When a variant alters a protein that plays a critical role in the body, it can disrupt normal development or cause a health condition.