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G and H > GH Revision - Part 2 > Flashcards

GH Revision - Part 2 Flashcards

1
Q

what happens when reproductive fitness changes?

A
  1. selection for more reproductively fit traits = alleles increase in frequency
  2. selection against less reproductively fit traits = alleles decrease in frequency
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2
Q

what is reproductive fitness?

A

ability for individuals to pass on their genes to subsequent generations

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3
Q

What are the 5 conditions for Hardy-weinberg?

A

1- Breeding population is large

2- mating is random

3- no mutation of alleles

4- no migration change

5- no selection

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4
Q

what is the hardy-weinberg equation for males

A

Hemizygous =

P + q = 1

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5
Q

how many decimal places does Craig want us to calculate to?

A

4

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6
Q

what is the formula for Chi-Squared?

A

(observed - expected )^2/ expected

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7
Q

What does chi-square indicate about hardy weinberg equilibrium?

A

is oberved = close to expected = equlibirum

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8
Q

what are the 5 exceptions of H-W equilibrium?

A

1- non-random mating
2- unequal survival
3- mutation
4- population subdivisionb
5- migration

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9
Q

Founder effect

A

small sub-pop becomes isolated

often reduces level of genetic diveristy

non-random sampling of original population = genetic drift

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10
Q

random genetic drift

A

stochastic nature of mendelian segregation

if population is small, alleles = readily lost to genetic drift

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11
Q

what are complex genetic traits caused by?

A

interplay of:

alleles of specific genes
environmental risk factors stochastic factors

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12
Q

Definition of complex quantitative traits

A

metric (continuous and measurable)

height, weight, organ weight, BP

distribution = normal

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13
Q

broad sense vs narrow sense

A

B= proportion that can be attributed to generic variation (all three sources)

N= phenotypic variation due to ADDITIVE genetic variation

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14
Q

what can be used to estimate variance in twins?

A

Correlation

if correlation = very high, variance = very low

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15
Q

When do you use:
a) H^2= 2(rmz-rdz)
b) h^2= R/S
c) Vp = Vg + VE, H^2= Vg/Vp

A

a) twins
b) comparing something (mean of offsping and parents(
c) variance is mentioned throughout the question)

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16
Q

What is the definition and features of a qualitative trait?

A

discontinious distribuation

genetic transmission preserves disease, they do NOT segregate according to mendelian ratios

17
Q

What is measured in quantitative genetics vs qualitative genetics?

A

Quant= Correlation = r(correlation ceoficceint on scale 0-1)

Qual= concordance = p(probability that a relative of someone who has the trait will be affecetd) scale 0-1

18
Q

Susceptibility vs liability

A

S= innate (genetic) tendency to develop trait

L= total risk of developing trait (all sources of varaition). reaches a threshold (do or don’t)

19
Q

What is Epigentics?

A

molecular modifications to alter activation of specific genes

can create cellular memory

20
Q

What is Euchromatin vs Heterochormatin

A

E= relaxed phsyical state = open and avalaible

H= condensed state with silent genes = switched off

21
Q

What are the two methods of epigenetic change

A

Histone modification- acetylation or methylation
-acetylation = activation = euchromatin

DNA Methylation
= repression
addaition of Me to C5 of C
creates heterochromatin

22
Q

What is the multigenerational effect of Epigenetic inheritance?

A

one generation to another via DIRECT exposure (maternal) affects three gens during preg)

23
Q

Epigentic inheritance in males

A

analysis showed that grandfather’s factors influence grandchildren (via sperm cells)

Sweden: food grandfather ate between 9 and 12 influenced longevity of grandchildren

= transgenerational (absence of continued direct enviro influences)

24
Q

What are HOX genes and how many are there?

A

What:
direct formation of body structures on early embryonic development.

function
each segment froms from early controlled expression of unique HOX combination

39 cross 4 clusters

25
Q

what is the impact of HOX gene mutation

A

Syndactyly (abnormal joining of fingers or toes)

26
Q

What does the SRY gene function for?

A

SRY = activator and encodes for Transcription Factor Protein (TDF)

TDF has a HMG box that binds to DNA = initiates sex determination and regulates male development

27
Q

What is the PAX-6 Gene?

A

master controller of eye development

loss of function (change in 1 allele = truncated protein)

heterozygotes are affected

28
Q

What arises from PAX-6 mutation?

A

Aniridia
-50% reduction in PAX6
haploinsuffiency

29
Q

what disorders has excellent potential for gene therapy?

A

Auto recessive

(Haemophlia and cystic fibrosis)

replace missing or defective

30
Q

how is a vector used in gene therapy?

A

vector inserted (in vivo, in situ)

reaches target cell

passes through cell memebrane

enter nucleus

delivers genetic materuial

genetic material instructs cell to make replacement gene and protein to correct defect

31
Q

What are important regulators of epigenome?

A

enzymes that add acetyl or methyl groups to histones as WRITERS

enzymes that remove histone marks ERASERS

enzymes that recognise histone and DNA modification READERS

32
Q

What gene therapy is used for dominant traits?

A

RNA interference

inhibits gene epression

introduction small siRNAs = cleavage of target mRNA = specfic loss of protein synthesis

can be allele specifific

SILENCES THE EXPRESSION OF TARGET GENES

33
Q

what is used to treat mitochondrial disorders?

A

3 person babies

embryo repair work or eg repair wor

34
Q

Steps in CRISPR

A

1- lipid nanparticles/virus
(cell transfected with DNA plasmid that expresses CAS-9 and gRNA)

2- CAS9 identifies corrsponding DNA seq and cuts both strands

3a- Non-homologous end joining
(cell’s attempt to repair break silences target gene by joining cleaved DNA)

3b- homology directed repair
(faulty gene may be corrected with replacement segment or new gene may be introduced

35
Q

What are the three main categories of Stem cells?

A

1- Embryonic
(pluripotent= any cell type)

2- Adult stem cell
(multipotent, exists naturally in the body and repairs tissues

3- Induced plurioptent stem cells
(made via reprograming, potentail to become any cell in body

G and H (16 decks)

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