CHAPTER 10

Question 1

What is the essential component of all biological structure and processes?

Answer 1

Proteins

Question 2

What are some processes of proteins?

Answer 2

impacts cell structures, metabolic reactions, hormonal responses, cell to cell signaling, gene expression, and immune ststem

Question 3

What results in a nonfunctional or partial functional protein?

Answer 3

DNA mutations

Question 4

what do genes that encode proteins do?

Answer 4

act as growth hormones, receptors, and transport molecules

Question 5

What happens if there is a mutation in encode proteins?

Answer 5

can cause dwarfism (lack of protein or non functional protein)

Question 6

What are the roles of enzymes?

Answer 6

they catalyze cellular biochemical reactions and when linked they form metabolic pathways

Question 7

Chained reactions of enzymes convert substrate molecules into products. What are substrate and product?

Answer 7

Substrate: specific compound acted on by an enzyme
Product: specific compound that results from enzymatic action and serves as the substrate for the next reaction in the pathway

Question 8

What happens when a mutation stops the activity of a particular enzyme?

Answer 8

All subsequent reactions in the pathway are shut down

Question 9

What is a result of a blocked pathway?

Answer 9

Accumulation of compound can be toxic and lead to genetic disorder like PKU and it’s stopped from making essential product

Question 10

What is the function of PKU.

Answer 10

It is an essential amino acid and a starting point for a network of metabolic pathways.

Question 11

How does PKU mutation affect an enzyme?

Answer 11

PKU is blocked and phenylalanine hydroxylase convert it to tyrosine which makes PKU accumulate which can lead to intellectual disabilities, jerky movements, epileptic seizures in newborns

Question 12

What is the treatment for PKU?

Answer 12

Reduction in intake of phenylalanine. Lifelong diet change

Question 13

What are carbohydrates

Answer 13

Simple sugars and more complex molecules like monosaccharides, disaccharides, polysaccharides

Question 14

What happens if there is a mutation in the GALT gene?

Answer 14

GALT catalyzes a step in the lactose metabolism pathway so inability to break down galactose means there will be a blocked reaction. It can result in blindness and autosomal recessive disorder

Question 15

What is the allele for galactosemia?

Answer 15

Allele G+ (100% functional)
Allele g (0% functional)
Allele G^D (50% functional)

An individual needs a total of 0% functionality for galactosemia (2 g allele)

Question 16

What is lactose

Answer 16

Sugar found in milk. Metabolism begins with breakdown into glucose and galactose, catalyzed by lactase

Question 17

What happens to activity of lactase as you grow older?

Answer 17

Activity decreases to less than 10% of newborn level in older children and adults

Question 18

What causes lactose intolerance?

Answer 18

Individuals with low levels of lactase cannot digest the lactose in milk and other dairy products. This is due to a variation in gene expression not a genetic mutation.

Question 19

What were the first examples of inherited variation in protein structure?

Answer 19

Variations in hemoglobin

Question 20

What is the effect of the mutant hemoglobin in sickle cell anemia?

Answer 20

It was the first direct proof that mutations result in a change in amino acid sequence in proteins ( cause a genetic disorder)

Question 21

What is a hemoglobin molecule made up of?

Answer 21

Made up of 4 proteins called globins and each carries an iron containing heme group that binds to oxygen

Question 22

Sickle cell anemia mutations

Answer 22

Fibers distort and harden the red blood cell membrane, twisting it into a sickle shale

Question 23

What are the treatments for anemia?

Answer 23

There is no cure but there are medications and procedures to alleviate symptoms (pain relieves and blood transfusions)

Question 24

How can protein variation affect the body?

Answer 24

It can result in genetic disorders of metabolism and also affect how individuals react to food, anesthetic, prescription drugs, and chemicals in the environment

Question 25

What is pharmacogenetics?

Answer 25

The study of genetic variations that underlie the differences in individuals responses to drugs

Question 26

What is eco genetics?

Answer 26

The study of how genetics is related to an individual’s response to environmental substances