Question

Donna and Darren have three children. Darren’s father has hypercholesterolemia, which is transmitted in an autosomal-dominant pattern. Darren gets his cholesterol levels checked frequently, and they have remained within normal limits; however, two of Donna and Darren’s three children have high plasma levels of total and low-density lipoprotein (LDL) cholesterol. Darren does not understand why his children are affected when it is clear that he is healthy. What could explain why Darren is unaffected but two of his children are affected? Darren return from a meeting with the genetic counselor but still does not understand what she told him. How could you help Darren understand what is going on with his family?

Answer 1

Autosomal dominant pattern in simple refers to a problem or affected gene from parent will be transmitted to their child .These types of disease usually run in the family. In certain cases both the parents ste not affected but child gets the disease. This happens because of mutation taking place in the embryonic stage when a fetus develops as a result the child born will be an affected child with the disease. This is as also called as new de-nova mutation .In other form the germ cell of the parents may have this mutation or it is present in the sperm cells .It is usually paternalistic in transmission. The changes may happen after birth or as the child grows.