Chapter 14 Case Study: Genetic dwarfism Seven months pregnant, an expectant mother was under-going a routine ultrasound. While p
rior tests had been normal, this one showed that the limbs of the fetus were unusually short. The doctor suspected that the baby might have a genetic form of dwarfism called achondroplasia. He told her that the disorder was due to an autosomal dominant mutation and occurred with a frequency of about 1 in 25,000 births. The expectant mother had studied genetics in college and immediately raised several questions. How would you answer two of them? 1. How could her baby have a dominantly inherited disorder if there was no history of this condition on either side of the family? 2. Is the mutation more likely to have come from the mother or the father?
1.) Achodroplasia is a autosomal dominant disorder, the suspected case suggested that inorder for the parents to produce and offspring with achondroplasia. One parents must have a single mutant gene of achodroplasia to be inherited by his offspring. for this case, It is suggested that the offspring might have developed its own mutant gene as it only affect 1 in 25,000 birth. There is changes of genes during early development.
2.) The mother said that they don't have that history of disorder. again, it's autosomal dominant disorder. one parents must have that kind of disorder so their child can also inherit it. Thus, no of the childs parents is a carrier.
Cellular homeostasis involves maintaining a balance of several factors that make a cell healthy. The cell membrane is a lipid bilayer that prevents that passage of water and ions. This allows cells to maintain a higher concentration of sodium ions out the outside of the cell.
