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Genetics > Final terms > Flashcards

Final terms Flashcards

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Biology 101 flashcards
1
Q

inbreeding

A

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

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2
Q

binary/ dichotomous traits

A

2 states (affected, unaffected) for the trait

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3
Q

continuous trait

A

range of values in the phenotypic trait

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4
Q

variance

A

measure of spread- increased variance and increased distribution

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5
Q

genotype by environment interaction

A

environment affects phenotypes differently depending on genotype

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6
Q

heritability

A

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

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7
Q

broad sense heritability

A

takes into account all ways genetics can impact pheno expression

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8
Q

std dev

A

square root of variance

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

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9
Q

modifier gene

A

genes that alter the phenotype of the main gene

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10
Q

correlation coefficient

A

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

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11
Q

QTL alleles …

A

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

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12
Q

quantitative trait locus

A

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

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13
Q

QTL mapping

A

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

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14
Q

SNP chip

A

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

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15
Q

misc

A
  • 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
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16
Q

misc cont

A
  • 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
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17
Q

incomplete penetrance

A

used when discrete categories cannot be defined

-variable expressivity= range of phenos produced with same geno

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18
Q

misc cont II

A
  • 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)
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19
Q

iPS

A

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

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20
Q

histone acetyl-transferase

A

modifying histones to loosen DNA and increase transcription rate

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21
Q

transcriptional activators

A

bind to enhancers to increase transcription

22
Q

DNA replication- major players

A

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

23
Q

SRY

A

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

24
Q

Xist

A

gene still expressed on Barr body to keep it inactivated

25
Q

turner syndrome

A

X -infertile females

26
Q

kleinfelter syndrome

A

XXY -infertile males

27
Q

ester bond

A

binds 5’ phos with 3’ OH

28
Q

nucleotide bases

A 
purines: 
A= NH2
G= O, NH2
pyrimidines:
C: O, NH2
T= O, O, CH3
U= O, O
29
Q

genetic testing

A

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

30
Q

splicing

A

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

31
Q

CRISPR mechanics

A

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

32
Q

reverse trancriptase and cDNA

A 
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)
33
Q

reciprocal vs robertsonian translocations

A 
reciprocal= non hom chroms break and exchange fragments - interferes with chrom segregation in MEIOsis
rob= fusion of afrocentric chroms (most of Down's)
34
Q

transposable elements

A

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

35
Q

aminoacyl-tRNA sythetase

A

catalyzes attachment of amino acid to corresponding RNA

36
Q

chi squared analysis

A

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

37
Q

chromatin remodeling complex

A 
makes hidden (methylated) binding sites available to transcription factors
-repositions nucleosomes and modifies histones to unwind DNA
38
Q

hypomorphic mutation

A

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

39
Q

mismatch repair

A

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))

40
Q

RB

A

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

41
Q

p53

A

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

42
Q

Ras

A

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

43
Q

hyperactive growth stimulation

A

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

44
Q

cyclin- CDK

A

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

45
Q

HW assumptions

A

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

46
Q

paralog

A

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

47
Q

ortholog

A

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

48
Q

kinase

A

enzyme that catalyzes transfer of phosphate group from ATP to other

49
Q

MAP/ ERK pathway

A

kinase cascade

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

50
Q

G1 to S pathway

A

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

Genetics (5 decks)

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