(01) Introduction

Question 1

Evolutionary and systematic biology are studies of what?

Answer 1

Long-term applications of genome replication and the study of the diversity of life resulting from the modulation of replication by environmental factors

Question 2

What are morphology, biochemistry, and physiology studies of?

Answer 2

The structural and functional consequences of the activites of the genetic materal at all levels, from molecular and cellular to organismal

Question 3

Ecology is the study of what?

Answer 3

interaction of genetically programmed individuals and populations with the environment

Question 4

Developmental biology is the study of what?

Answer 4

Those aspects of replication that occur within the life span of individual organisms

Question 5

Immunology is the study of what?

Answer 5

The immune response of a host genome

Question 6

Two principles of animal breeding

Answer 6

• individual traits can be passed on to next generation

- individual traits can be present but not visible

Question 7

What happens in porcine stress syndrome (malignant hyperthermia)? What is the desired aim of this breeding?
What homozygous gene caused the muscle damage?

Answer 7

• too much calcium released during stress, causes muscles to tense up providing bad meat quality
• lean, heavy muscling
• RYR1 (recessive - so heterozygous are fine)

Question 8

What is a locus?

Answer 8

a unique location on a chromosome

Question 9

What is a gene?

Answer 9

unit of genetic information that controls a trait

Question 10

What is an allele? What may they have?

Answer 10

• a different form of a gene or locus

- a known underlying molecular component such as a single nucleotide mutation or duplication/deletion

Question 11

What are other names for Nucleotide mutations? How often do they occur?
What are the two types? What causes transitions? Which is more common? What is a transversion? What is a transversion?

Answer 11

• single nucleotide polymorphisms, SNPs
• 1/1000 bp in human genome
• Transitions and Transversions
• oxidative deamination and non-canonical (unusual) base pairing
• Transitions (2x more frequent)
• purine > purine or pyrimidine > pyrimidine
• pyrimidine > purine or vice versa

Question 12

What is a silent mutation?

Answer 12

• (synonymous) alter codon, but no change in amino acid (cause Leucine equals TTA, TTG, CTT, etc

Question 13

What is a mis-sense mutation?

Answer 13

• (non-synonymous) change the AA

Question 14

What is a non-sense mutation?

Answer 14

• premature stop codon (TTA to TAA)

Question 15

What is a frameshift mutation?

Answer 15

• when there is an insertion/deletion that shifts the whole thing

Question 16

Where can non-coding mutations occur?

Answer 16

• splice site mutations, promoter, “control regions”

Question 17

What is a genotype?

Answer 17

• the combination of alleles present in an individual

Question 18

What is a phenotype?

Answer 18

• the characteristics of the trait that are expressed (a product of the genotype in the environment)

Question 19

What is a copy-number variation (CNV)? What are they associated with? What size are they? CNV’s comprise at least 3X the total nucleotide content of what?

Answer 19

• variation in the DNA of a genome that results in individuals having an abnormal number of copies of one or more regions of the genome
• diseases
• thousands to millions of DNA base pairs
• SNPs

Question 20

Why do chimps have two diploid copies of salivary amylase (AMY1) but humans have 6 to 15?

Answer 20

• adaptation to high starch diet

Question 21

What is haploid?

Answer 21

having one copy of each gene

Question 22

What is diploid?

Answer 22

• having two copies of each gene

Question 23

What is a polymorphism? homozygote? heterozygote?

Answer 23

• presence of multiple alleles at a gene
• individual with 2 copies of the same allele
• individual with one copy each of two different alleles

Question 24

Polyploid / euploid? aneuploid?

Answer 24

• multiple of monoploid number

- abnormal number (ie down syndrome, one extra chromosome)

Question 25

What is variable expressivity? What does it refer to?

Answer 25

• variations in a phenotype among individuals carrying a particular genotype
• the influence of an expressed gene at the level particular individual phenotypes, analagous to the severity of a condition

Question 26

What is penetrance? How is it expressed? Less than 100% penetrance is called what?

Answer 26

• presence of a gene that is not phenotypically expressed in all members of a family/population
• proportion of individuals of a specified genotype that express a trait that is normally associated with that genotype under a given set of environmental conditions
• incomplete penetrance

Question 27

What are some reasons for incomplete penetrance? Incomplete penetrance is a phenomena associated only with what?

Answer 27

• age
• environment (nutrition)
• can also be the result of alleles at other loci that influence the expression of the trait
• dominant inheritance

Question 28

What are complex (polygenic) traits also referred to as? Are there discreet classes of phenotypes? How are they measured? The majority of traits of interest are what? QTL can also be influenced by what?

Answer 28

• multi-factorial or quantitative traits (QTL)
• no
• along a spectrum
• continuously varying
• environmental factors (nutrition, infections, time of day)

Question 29

What are some examples of complex (polygenic) traits?

Answer 29

• growth rate
• milk yield
• inflammatory response
• immune response
• hip or elbow parameters

Question 30

What is epistasis?

Answer 30

Effects of one gene are modified by one or several other genes

Question 31

What mutation causes lethal white foal syndrome? What coat pattern is this associated with? All white paints are what?

Answer 31

• homozygous EDNRB mutation
• Frame Overo
• 80% are heterozygous for EDNRB (so other genes are cuasing the whiteness cause if it was this one the foal would die)