Exam 10: From Proteins to Phenotypes

The inability to break down galactose is the genetic disorder called ____________.

The chemical compound that acts as a reactant in an enzyme mediated reaction is called a ____________.

The element to which oxygen (O2) binds in a hemoglobin molecule is ___________.

Fetal hemoglobin functions adequately in the fetus but is ineffective in adults.

All metabolic disorders result in serious phenotypic consequences.

Paraoxonase converts the insecticide ____________________ into a toxic substance called paraoxon.

Hormone therapy, if administered early, is effective in treating genetic goitrous cretinism.

The presence of phenylpyruvic acid in urine is an indicator of ___________.

Use of succinylcholine as an anaesthetic is very dangerous for people with a genotype for the fast-acting form of the enzyme serum cholinesterase.

Different genotypes for the CYP2D6 gene produce significantly different responses to tamoxifen, the medication of choice for treatment of most cases of ____________________.

The molecular defect in sickle cell anemia is known to reside at the position ____________________ of the ____________________ globin

In people who have PKU, phenylalanine cannot be converted into the amino acid ____________.

Show how the environment, extrauterine and intrauterine factors can influence the expression of PKU.

The existence of differential drug sensitivity serves to reinforce the idea that

Thalassemias are hemoglobin disorders in which the production of alpha and beta chains are out of balance.

What does the chapter's section on pharmacogenetics and ecogenetics tell us about the issue of the relative safety of chemicals sold to the public and used in industry?

Lactose intolerance is caused by a mutation in the gene that codes for lactase.

Familial hypercholesterolemia is associated with a defect in mitochondrial protein synthesis.

A person with the genotype GD/g for the galactosemia gene would have ____________________ of the normal level of galactose-1-phosphate uridyl transferase.

Almost 70 percent of women with breast cancer are estrogen-senstive. What does this mean?