You are a young M.D. and genetic researcher working in conjunction with the Human Genome Project. The charge of your laboratory is to research cures for genetic diseases. Recently the Centers for Disease Control and Prevention (CDCP) reported several cases of a new genetic disease dubbed the "Liver Quiver Syndrome." Even though little is known about the inheritance pattern of the disease, the

Question

abnormal allele(s) cause(s) a defective protein in the membrane structure of the Golgi apparatus. This abnormal protein prevents the processing of a protein that would eventually be secreted from liver cells. Symptoms include a spasm-like condition of the liver. Thus the name "Liver Quiver Syndrome." This disease is almost always fatal, killing most victims by age 50. As a doctor and genetic researcher, discuss the genetic research that must first be completed before a cure can be found.

What will be an ideal response?

Answer 1

The best responses will include mapping and sequencing the gene and determining the inheritance pattern. This will involve family case studies and putting together pedigrees.