Final terms

Question 1

inbreeding

Answer 1

frequency of recessive homos increases; heterozygotes decrease in finite pop
-migration decreases polymorphs, mutation increases PMs

Question 2

binary/ dichotomous traits

Answer 2

2 states (affected, unaffected) for the trait

Question 3

continuous trait

Answer 3

range of values in the phenotypic trait

Question 4

variance

Answer 4

measure of spread- increased variance and increased distribution

Question 5

genotype by environment interaction

Answer 5

environment affects phenotypes differently depending on genotype

Question 6

heritability

Answer 6

amount of phenotypic variance within a group that IS due to genetic variation
h= 1 is all due to gen
h=0 is all due to envi

Question 7

broad sense heritability

Answer 7

takes into account all ways genetics can impact pheno expression

Question 8

std dev

Answer 8

square root of variance

-68% is within one SD of mean; 95% within 2

Question 9

modifier gene

Answer 9

genes that alter the phenotype of the main gene

Question 10

correlation coefficient

Answer 10

tells us how much variance of one outcome depends on another- uses AVERAGE, STD DEV, and COVARIANCE to determine stat significance of a comparison

Question 11

QTL alleles …

Answer 11

contribute to complex traits- tend to be low penetrance and common in pop (identified in GWAS)

Question 12

quantitative trait locus

Answer 12

region of DNA (tend to be alleles) correlated with a particular phenotype
-QT loci= all regions of DNA that contribute to multifactorial trait

Question 13

QTL mapping

Answer 13

uses SSRs, SNPs, RFLPs to track QTLs with disease- the closer the polymorph is to gene of interest, the fewer the recombination events (%)

Question 14

SNP chip

Answer 14

used to ID specific DNA sequence polymorphisms in genomic DNA
- proliferation of cancer could be promoted by peptide bond component that activates EGFR

Question 15

misc

Answer 15

• 50% recombination freq= unlinked (independent assort)
• alleles of genes segregate in meiosis 1 by hom choms
• linked genes do not undergo independent assortment
• medelian ratios represent unlinked ratios
• attenuation is only in prokaryotes (alternative splicing is only in euks)
• if mutation occurs in template strand it will be in RNA (expressed).. not expressed if in coding strand
• transposons can mobilize antibiotic resistance genes
• 5’ phos+ 3’ OH= ester bond
• variable expressivity= incompetence penetrance
• lagging strand occurs in DNA replication,.. not in transcription!!
• splice sites are not the same each transcription
• splicing can begin before the transcript is complete

Question 16

misc cont

Answer 16

• DNA sequence info is used to design PCR primers
• RNAi triggers degradation of RNA transcripts containing homologous sequences
• lacI repressor binds to operator (lacO)
• regulatory systems for energy pathways are generally not core pressed (sucrose metabolism)
• immunoprecipitation cannot tell about total gene exp
• ligand binds receptor, then ras is activated, then kinase cascade, then activation of TFs in nucleus
• inosine= usually in wobble position- resembles G, can pair with C, A ,U
• polypeptides are added N to C (collinear with 5’ to 3’)
• CRP adenyl-cyclase is needed for transcription of lac operon
• aporepressor requires a corepressor (trp) to turn transcription off

Question 17

incomplete penetrance

Answer 17

used when discrete categories cannot be defined

-variable expressivity= range of phenos produced with same geno

Question 18

misc cont II

Answer 18

• synapsis and crossing over occur in meiosis prophase I
• response element- DNA sequences that bind transcription factors
• somatic cell nuclear transfer= cloning to add transgenes
• gene duplication is most common way to make new genes
• the rarer the allele, the greater the ratio of hetero:homo
• strength of genetic drift is relative to pop size (greatest effect on small pop)
• QTL alleles that contribute to complex traits tend to be common and have low prevalence
• the closer the SSR is to gene of interest, the smaller the percent recombination
• proliferation of cancer could be promoted with peptide bond compound that activates EGFR
• each entry in a distance matrix= number of amino acid differences between species (used to create phylogenic tree)

Question 19

iPS

Answer 19

generated by expressing a set of transcription factors (from adult differentiated SCs)

Question 20

histone acetyl-transferase

Answer 20

modifying histones to loosen DNA and increase transcription rate

Question 21

transcriptional activators

Answer 21

bind to enhancers to increase transcription

Question 22

DNA replication- major players

Answer 22

helicase- unzips DNA double helix to polymerase can access template strand for replication
single strand binding protein- keeps DNA strand separated
DNA polymerase I- removes RNA primer, fills Okazaki, and proofreads =exonuclease
DNA polymerase III- primary enzyme for DNA rep

Question 23

SRY

Answer 23

master sex determination gene- determines male development- encodes testis determining factor

Question 24

Xist

Answer 24

gene still expressed on Barr body to keep it inactivated

Question 25

turner syndrome

Answer 25

X -infertile females

Question 26

kleinfelter syndrome

Answer 26

XXY -infertile males

Question 27

ester bond

Answer 27

binds 5' phos with 3' OH

Question 28

nucleotide bases

Answer 28

``` purines: A= NH2 G= O, NH2 pyrimidines: C: O, NH2 T= O, O, CH3 U= O, O ```

Question 29

genetic testing

Answer 29

immunoprecip- protein interactions yeast 2 hybrid- protein interactions (In vivo) in situ hybridization- RNA present in certain tissues (gene exp) DNA microarray- mRNA in relative tissues (gene exp)= measure gene expression levels of large areas mass spec- protein ID= by mass/ charge ratio

Question 30

splicing

Answer 30

2' OH site of intron binds to exposed 5' splice site on end of exon, creating intron lariat and releasing 3' OH on exon to bind with 5' of next exon -spliceosome, ribozyme, or small nuclear RNA (snRNA) can be involved in enzymatic action of splicing

Question 31

CRISPR mechanics

Answer 31

PAM- needed for cas9 cutting mech= NGG tracrRNA- structure in cas9 needed to cut gRNA-single RNA helps crRNA target- needed to cut crRNA- has many spacer sequences to be filled with viral DNA= needed to cut at specific seqs cas 1&2- needed to acquire new immunity- mutation would result in inability to form new memories (get new seq.s) but could still cut previously acquired viral DNA

Question 32

reverse trancriptase and cDNA

Answer 32

``` RT= uses single stranded RNA as template for new DNA strand cDNA= must be made from tissue that actively expresses target gene, is complementary to mRNA, can be patented, used to clone euk genes into bacteria (no introns) ```

Question 33

reciprocal vs robertsonian translocations

Answer 33

``` reciprocal= non hom chroms break and exchange fragments - interferes with chrom segregation in MEIOsis rob= fusion of afrocentric chroms (most of Down's) ```

Question 34

transposable elements

Answer 34

DNA sequences that can jump from one position to another in DNA (or between DNA) transposase= enzyme that excises transposable elements and reintegrates then somewhere else

Question 35

aminoacyl-tRNA sythetase

Answer 35

catalyzes attachment of amino acid to corresponding RNA

Question 36

chi squared analysis

Answer 36

test compares the observed frequency of results with expected freq. to demonstrate if the link is significant (not to be used with ratios/ proportions)

Question 37

chromatin remodeling complex

Answer 37

``` makes hidden (methylated) binding sites available to transcription factors -repositions nucleosomes and modifies histones to unwind DNA ```

Question 38

hypomorphic mutation

Answer 38

gene product has less function than normal- usually recessive null allele= loss of function caused by deletions and early stop codons= recessive marfan syndrome- dom neg mutation= heterozygotes affected

Question 39

mismatch repair

Answer 39

Mut L-S-H: cuts 5' of unmethylated GATC and exonuclease degraded daughter strand beyond mismatch and DNA polymorph fills DAM methylase= methylates A in GATC in correct, older copy ((nucleotide excision repair fixes pyrimidine dimers and other bulky DNA adducts))

Question 40

RB

Answer 40

retains E2F in cytoplasm until phosphorylated by CDK- maintains cell in G1 = tumor suppression gene

Question 41

p53

Answer 41

transcription factor for DNA damage checkpoints= DNA damage sensor -stops cell cycle for repairs, can cause apoptosis, prevents angiogenesis -li Fraumenni= p53 mutations (dom neg- heterozygotes develop tumors) =tumor suppressor gene

Question 42

Ras

Answer 42

stimulates cell proliferation presence of growth factors =proto-oncogene -GAP inactivates Ras-GTP -GEF activates Ras (GDP to GTP) -oncogene form is stuck in ras-GTP on state

Question 43

hyperactive growth stimulation

Answer 43

mutations that inactivate growth factor receptors like EGFR (over expressed ras, cyclin D, or inactivated RB) =inappropriate G1 to S transformation

Question 44

cyclin- CDK

Answer 44

complex phosphorylates proteins and causes cell cycle to advance -binding cyclin activates CDK, CDK then phosphorylates target proteins (regulates cell cycle)

Question 45

HW assumptions

Answer 45

matin is random no migrations/ mutations (no new alleles) same allele frequencies and fitness level in males and females pop is large enough that allele freq changes do not occur randomly

Question 46

paralog

Answer 46

homologous genes in same species by gene duplication- gain new function

Question 47

ortholog

Answer 47

homologous genes in different species by speciation- usually retain same function

Question 48

kinase

Answer 48

enzyme that catalyzes transfer of phosphate group from ATP to other

Question 49

MAP/ ERK pathway

Answer 49

kinase cascade | ERK= last kinase in cascade- enters nucleus where it phosphorylates and activates transcription factors

Question 50

G1 to S pathway

Answer 50

growth factors (extracellular)-> cell membrane receptor-> Ras and MAP kinase cascade -> cyclin + CDK -> RB -> E2F -> transcription factors in nucleus to signal cell growth