Aneq 334 Exam 1

Front 1

Fundamentals of Generics

Back 1

1 describing and characterizing variation (phenotype)

2 understanding the reason the three variation (genotype)

3 making use of variation due improvement (selection)

Front 2

Trait

Back 2

Observable or measurable characteristics

Front 3

Phenotype

Back 3

Specific form of a trait

Front 4

Genotype

Back 4

Genetic makeup is an individual which helps determine phenotype

Front 5

Basic premise

Back 5

Phenotypic variation (describe variation observed) > genotypic variation (understand basis of variation) > selection (make changes towards a particular variant)

Front 6

Continuous variation

Back 6

Quantitative

Bell curve

Front 7

Discontinuous variation

Back 7

Qualitative

Bar graph

Front 8

Genetic model

Back 8

Phenotype = genotype +environment

Changes in phenotype lead to changes in the other side of the equation

Front 9

Gene

Back 9

Specific locus on the genome/chromosome/DNA

Basic unit of inheritance

Front 10

Allele

Back 10

Alternative forum of a gene

Front 11

Mendel's Laws

Back 11

1 dominance = expression of 1 allele masks the other (mode of inheritance = dominant or recessive)

2 segregation = 50% if a individual's genotype is transmitted to offspring

3 independent assortment = inheritance of one locus does not impact another

Front 12

Exceptions to Mendel's Laws

Back 12

Sex - linked = gene is on sex chromosome (usually only males exhibit assorted phenotype

Sex - limited = expression in only 1 gender (usually females)

Sex - influenced = expression is different i in males VS females

Front 13

Why Twilight?

Back 13

Female (2x chromosomes l

High homozygosity (low variation)

Made putting genome together simpler

Front 14

Genome sequence

Back 14

Segregate genome to learn about variation

Front 15

Sequence variations

Back 15

Single nucleotide polymorphisms (snps)

Microsatellites

Copy number variations (cnvs)

Insertions/deletions (INDELs)

Front 16

Categories of information

Back 16

Protein coding genes

Non - coding genes

Regulatory sequence

All are units of inheritance

Front 17

Central Dogma

Back 17

Flow of information

Front 18

Relationship of the categories of information

Back 18

Regulatory sequences > protein coding genes and non - coding genes > Proteins

Front 19

Annotation

Back 19

Giving meaning/definition to the rule of each base pair in the genome sequence

Front 20

Protein coding genes

Back 20

Front 21

Exon

Back 21

DNA sequence coding for protein (defines allele sequence)

Transcribed

Front 22

Intron

Back 22

DNA sequence between exon in the genome, Transcribed with the exons and then spliced out

Can regulate which exons are used in the final MRNA

Front 23

UTR

Back 23

Untranslated regions - Transcribed with exons and introns

Help determine/regulate translation into MRNA into protein

Front 24

Promoter

Back 24

Regulatory sequence that controls mutation of transcription

Front 25

Response element

Back 25

Regulatory sequence

Helps determine which promotors are used

Front 26

Regulatory element

Back 26

Regulatory sequence

Five five level of transcription

Front 27

Central Dogma Jim Action

Back 27

Front 28

How does variation enter population?

Back 28

1 mutation - change in DNA sequence (make a new individual)

2 migration - new variants come in form of new individuals from another population

Front 29

How is new variation maintained?

Back 29

Must be beneficial (or at least not harmful)

Front 30

Impact of exon on phenotype

Back 30

Protein change that yields phenotype change

Point mutation - nonsense (new stop), missense (different alleles), silent (DNA change only)

Frameshift - nonsense, missense

Front 31

Impact of intron on phenotype

Back 31

Can alter which exons are included or excluded from mature MRNA

Point mutations, INDELs

Front 32

Impact for UTR on phenotype

Back 32

Might change where MRNA is set for translation, the rate it takes translation to reach it, and how long translation takes

Point mutations or INDELs

Front 33

Promotor influence on phenotypic variation

Back 33

Can influence rate or presence even of transcription

Point mutations, INDELs

Front 34

Response elements phenotypic variation

Back 34

Can alter which promotors are used for transcription

Can influence if a gene is transcribed

Point mutations INDELs

Front 35

Regulatory sequences influence on phenotypic variation

Back 35

Can alter level of transcriotion

Can alter genes that are regulated

Point mutations, INDELs

Front 36

Degree of impact for phenotypic variation

Back 36

High to low

Exons - direct impact on amino acids in Proteins

Introns/UTR - impact regulation of translation, CAN alter amino acids used in proteins

Promoter - is the gene Transcribed?

Response element - is the gene Transcribed?

Regulatory sequences - what level is the gene expressed

Front 37

Impact on protein sequence

Back 37

A) nonsense mutations - new stop codon

B) missense mutations - change in mini acid sequence

neutral mutations are a type of missense

C) silent mutations - DNA changes, amino acid sequence does not

Front 38

Impact of protein function

Back 38

A) gain of function

B) loss of function

C) regulation of function

Front 39

Location of protein function

Back 39

A) inside the cell

B) outside the cell

C) in cell membrane

Front 40

Why are there relatively few dominant disorders?

Back 40

Dominant alleles ALWAYS impact fitness = death, no chance of living long enough to pass it on

Front 41

Common features of HYPP, PSSM1, MH

Back 41

All affect muscle physiology

All result from missense mutations

Front 42

Why are missense more common

Back 42

Not more than silent, but more than nonsene

Front 43

What if HYPP was nonsense

Back 43

Front 44

Why did we only talk about mutations in exons

Back 44

Most dramatic impact

Most likely to impact phenotype