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principles of disease > genetics > Flashcards

genetics Flashcards

1
Q

what is a de novo mutation

A

mutation that arises for the first time in an individual

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2
Q

what is fitness

A

the ability to pass on genetic information

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3
Q

how do mutations effect an individual

A

mostly - neutral
some - deleterious
few - advantageous

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4
Q

if you have 1000 people how many ales will you have

A

2000`

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5
Q

what is the Hardy–Weinberg equilibrium

A

the relative frequencies of alleles between generations remains constant

unless changes

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6
Q

assumptions with the hardy-Weinberg equilibrium

A
  • mating is random
  • migration is negligible
  • no selection pressure
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7
Q

what is natural selection

A

reduces reproductive fitness of an organism

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8
Q

positive selection

A

increases reproductive fitness

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9
Q

what is the founder effect

A

when a small sub set of a population (bottle necks) and forms a new colony with less allele variation

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10
Q

what is genetic drift

A

widespread
natural
random by chance

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11
Q

what types of non random mutations are there

A 
assertive mating 
(smart with smart/ deaf with deaf)

consanguinity
marriage between close blood relatives

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12
Q

how are genetic mutations classed

A

from 5 (being parthenogenic) to 1 being Benin)

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13
Q

what are variants of uncertain significance

A

a mutation that cannot be determined to be either neutral or deleterious

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14
Q

what is cultural isolation and example of

A

founder effect

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15
Q

what is the the of DNA

A

the double helix and complimentary base pairing.

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16
Q

what dose each nucleotide contain

A

sugar base and a phosphate

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17
Q

where do transcription factors bind

A

on the major group

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18
Q

why is the minor group not used

A

the proteins are too big to interact

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19
Q

what dose the nucleolus do

A

make ribosomal RNA -

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20
Q

what dose DNA wrap around

A

a histone

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21
Q

what is a nucleosome

A

8 histones

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22
Q

what is chromatin

what is the banding pattern

A

looks like a big bowl of spaghetti

all the DNA, proteins, RNA that make up a chromosome

due to the chromatin

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23
Q

how is chromatin made more accessible

A

histones are modified by enzyme

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24
Q

what way is replication

A

5’ to 3’ end

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25
Q

what bits are coding regions what are non coding

A

introns don’t code

exons do code

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26
Q

what happens from dna to protein

A 
DNA 
transcription
mRNA,tRNA,rRNA
translation
protein
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27
Q

what is heterochromatin

A

Condensed structure

Silenced genes

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28
Q

what is Euchromatin

A

Open structure

Active genes

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29
Q

what are okazaki fragments

A

the fragments made as part of the lagging strand

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30
Q

what makes new DNA

A

DNApolymease

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31
Q

what binds the okazaki fragments

A

DNAlgase

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32
Q

what is the structure of a nucleosome

A

a solenoid structure

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33
Q

what one phat to analysed by photograph chromosomes

A

a karyotype

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34
Q

what is FISH

A

it is fluorescent in situ hybridisation

a piece of fluorescent probe DNA binds to its complementary section

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35
Q

what is Oogenesis

in the end what dose it make

A

process of egg formation

4 polar bodies and one egg

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36
Q

what is Spermatogenesis

what dose it make

A

process of sperm formation

4 sperm cells

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37
Q

what are examples of FISH probes

A

centromeric - chromosome No.

telomeric

whole chromosome probes - spectral karyotype

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38
Q

when dose recombination occur

A

prophase 1

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39
Q

what do two haploid cells form

A

a diploid - zygote which then becomes a embryo

40
Q

what is maternal inheritance

A

the inheritance of mitochondrial DNA via the egg

41
Q

what is x inactivation

A

when a sex linked allele i.e. is not on the y it is the only one expressed

however a female has to inactivate one x chromosome

42
Q

what is autosomal inheritance

what are the two type

A

a pattern of inheritance that is not on a sex chromosome

dominant
recessive

43
Q

what is sex linked inheritance

A

related to the sex chromosomes (it is a mutated x chromosome)

44
Q

characteristics of sex linked

examples

A

no mail to male transmission
skip generations
only men affected

Duchenne muscular dystrophy

45
Q

an arrow on a pedigree model shows

A

who you are doing this for

46
Q

a line through someone means

A

deceased

47
Q

a boy is

and a girl is

A

square boy

circle girl

48
Q

what are the characteristic of autosomal dominant

examples

A

no skipped generations
male to male transmission
50% of inheriting the condition

Huntington’s
dwarfism

49
Q

what are the characteristic of autosomal recessive

examples

A

need both parents to be carriers
carriers can have symptom like presentation

cystic fibrosis

50
Q

what are the 3 types of chromosomal abnormalities

A

numerical, structural and mutational

51
Q

what are the majority of chromosomal mutations in the trimester and after birth

A

trisomy

52
Q

what is trisomy

example

A

an extra chromosome - maternal origin

down syndrome

53
Q

what is monosomy

example

A

only having one chromosome

turner 45,X

45 chromosomes not 46
lost a bit of x chromosome

54
Q

what is trisomy 21

A

Down syndrome
1 in 650

Characteristic facial features

IQ less than 50

Average life expectancy (50-60 years)

55
Q

what is trisomy 13

A

Patau syndrome

Multiple dysmorphic features and mental retardation
About 5% die within first month, very few survive beyond first year

56
Q

what is turners syndrome

A

short stature infertile

neck webbing - wide nipples

57
Q

what is Klinefelter syndrome

A 
47,XXY
1 in 1000
tall stature, long limbs 
mild learning difficulties
small testes
58
Q

when do partial trisomy and partial monosomy occur

A

when there is unbalanced translocation

59
Q

what is Robertsonian translocation

A

Robert

loss of the short arms of a chromosome

60
Q

what is the outcome of deletions

A

it depends on what was deleted

variable outcome

61
Q

what is the outcome of inversions

A

it depends on where and what genes are expressed on either side of the break

62
Q

what is a unbalanced chromosomal change

A

when there is a duplicate of come DNA however there is not the full complement

63
Q

what are the genetic mutation tyoes

A

germline or somatic
gene disruption / disease-associated
polymorphism

64
Q

what are the types of coding mutations

A

silent - doesn’t effect protein

missense - changes protein

nonsense - changes to a stop codon

frame shift - completely changes the outcome

65
Q

what are the two type of point mutation

A

transitions - purine to purine
A to G

transversions - purine to pyrimidine
A to C
Cto G

66
Q

what are detecting mutations

A 
Polymerase chain reaction (PCR)
Gel electrophoresis
RFLP
ARMS
DNA sequencing
67
Q

what are the 3 steps of PCR

A

Denature - 95oC
Anneal - 50-70oC
Extend - 70oC

68
Q

what happens in gel electrophoresis

A

Separate DNA fragments by size
Apply an electric field
DNA is negatively charged

69
Q

what are the advantages/disadvantages of arms

A

Cheap
Electrophoresis required

Limited amplification size
Limited amounts of product

70
Q

what is the best way for detecting mutations

A

DNA sequencing

Automation and high throughput

Expensive equipment

71
Q

what are microarrays

A

collection of microscopic DNA spots - seeing expression of gene

72
Q

what is penetrance

A

the frequency with which a trait is manifested by individuals carrying the gene.

73
Q

what is non-medilian inheritance

A

Several variants in several genes acting together

74
Q

what are examples of non medeilian inheritance

A 
Incomplete Penetrance
Genomic Imprinting
Extranuclear Inheritance
Complex
Anticipation
75
Q

what is complex inheritance

A

when there are multiple low variants present

76
Q

what is extran nuclear in heritance

what dose it effect
example

A

basically a mutation in the mitochondria

tissue with high metabolic demand
DAD

77
Q

what is homoplasmy

A

uniform mtDNA

78
Q

what is heterolasmy

A

two ore more types of mtDNA

79
Q

what is anticipation

A

when a section of DNA that normally repeats is mutated

and repeats 50 times more

80
Q

what is incomplete penetrance

A

when a phenotype does not manifest as the gene suggests

leading to a inaccurate pedigree without genetic testing

81
Q

what is uniparental disomy

A

Inheritance of a chromosome pair from one parental origin

82
Q

what is genomic imprinting

A

when there are genes expressed from only one parent and this goes wrong

83
Q

what is PEG and MEG

A

paternally expressed gene, maternally expressed gene

84
Q

Genetic drift

A

Random fluctuation of one allele transmitted to high proportion of offspring by chance

85
Q

Founder effect

A

reduction in genetic variation that results when a small subset of a large population is used to establish a new colony

86
Q

what are somatic mutations

A

non germline tissue

are nonheritable

87
Q

what are germline mutations

A

Present in egg or sperm
Are heritable
Cause cancer family syndromes

88
Q

what are the 3 genetic processes associated with cancer

A

Oncogenes

Tumour suppressor genes

DNA damage-response genes

89
Q

what do tumour suppressor genes have

A

a two hit hypothesis

90
Q

what is a DNA response gene

A

it fixes a mismatch ie when two purines are together

MMR gene

91
Q

what are MSIs

A

MSI is the phenotypic evidence that MMR is not functioning normally

92
Q

examples of tumour suppressor genes

A

Rb
p53
BRAC1

93
Q

examples of oncogenes

A

RET

VEGF

94
Q

what can a failure of mismatch repair gene do

A

lead do hereditary colorectal cancer

CRC

95
Q

what are the 5 classes of variant

A 
5 = parthenogenic
1= benign

principles of disease (18 decks)

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