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genetics Flashcards

1
Q

what are pathological polymorphism

A

mutations

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2
Q

what is PCR

A

ability to amplify a small amount of DNA millions of times

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3
Q

what is a DNA probe

A

piece of single stranded DNA that can locate and bind to its complementary sequence

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4
Q

what is hybridisation

A

when thousands of probes are analysed

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5
Q

what is PCR

A

when a primer acts as a starting point for DNA polymerase to build a new DNA chain that is complimentary to the sequence under investigation

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6
Q

what do single nucleotide polymorphs consist of

A

two nucleotides at a particular site

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7
Q

what chromosome is the cystic fibrosis gene on

A

chromosome 7

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8
Q

what is DNA wound around

A

histone proteins

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9
Q

what is DNA + histone called

A

nucleosome

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10
Q

how many chromosomes in human cell

A

46

23 inherited from each parents

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11
Q

what sex chromosome do males have

A

XY

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12
Q

what sex chromosome do females have

A

XX

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13
Q

what is the middle of chromosome called

A

centrosome

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14
Q

what is the short arm

A

p

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15
Q

what is the long arm

A

q

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16
Q

when can chromosome be stained

A

in metaphase

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17
Q

where exactly is the CFTR gene

A

chromosome 7 on band 21

7q21

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18
Q

what occurs in mitosis

A

each chromosome divides into 2 daughter cells

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19
Q

what happens to the X chromosomes in a female

A

X inactivation that is random

it can affect either X chromosomes

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20
Q

what is at the end of a chromosome

A

telomeres contain many repeats of TTAGGG

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21
Q

what are the ends of the chromosomes susceptible to

A

single-stranded DNA degradation back to double-stranded DNA

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22
Q

what happens to the ends of telomeres when they differentiated

A

they get shorter

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23
Q

what happens to germ cells when they replicate

A

they do not shorten as they have telomerase

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24
Q

what is telomerase

A

protects against telomere shortening by acting as a template primer

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25
Q

what do cancer cells switch on to become immortal

A

telomerase

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26
Q

how many pairs of chromosome in a human

A

23

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27
Q

what is the mitochondrial chromosome

A

circular DNA

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28
Q

what does mitochondria produce

A

ATP

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29
Q

what else do mitochondria have a critical role in

A

apoptotic cell death

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30
Q

where are all mitochondria inherited from

A

mother

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31
Q

is somatic inherited

A

no

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32
Q

what do somatic cell mutation give rise to

A

tumours

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33
Q

what is aneuploidy

A

whole extra or missing chromosome

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34
Q

what is non-dysfunction

A

chromatid or chromosome fails to separate

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35
Q

what is an extra chromosome called

A

trisomy

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36
Q

what is having only one chromosome called

A

monosomy

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37
Q

what is trisomy 21

A

Down syndrome

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38
Q

what abnormalities cause klinefter

A

XXY

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39
Q

what is it called when individual only have one chromosome monosomy X or Y

A

Turner syndrome

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40
Q

what do micro deletions in chromosome 22 give rise to

A

DiGeorge syndrome

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41
Q

what do inversions involve

A

end to end reversal of a segment within a chromosome

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42
Q

example of disease caused by inversion

A

haemophilia

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43
Q

what is translocation

A

two chromosome regions join together

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44
Q

what is a reciprocal translocation

A

two non-homologous chromosome break simultaneously and rejoin

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45
Q

what is robertsonian translocation

A

two acrocentric chromosome join

short arm is lost

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46
Q

what is risk of passing on robertsonian translocation

A

children may have unbalanced

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47
Q

what mutation causes down syndrome

A

trisomy 21

48
Q

clinical features of Down syndrome

A
  • flat face
  • slanting eyes
  • small ears
  • short and stubby fingers
  • learning difficulties
    etc
49
Q

what is trisomy 13 cause

A

patau syndrome

survive few weeks

50
Q

what does trisomy 18 cause

A

edwards syndrome

51
Q

clinical features of Edwards syndrome

A
  • low set ears
  • rocker bottom feet.
  • learning difficulties
52
Q

who does turner syndrome affect

A

women

53
Q

what mutation cause turner syndrome

A

45 X

54
Q

clinical features of turner syndrome

A
  • infantilism
  • short stature
  • webbed neck
55
Q

who gets triple X syndrome

A

women

56
Q

who gets klinefter syndrome

A

men

57
Q

what mutation cause klinefter syndrome

A

47 XXY

58
Q

clinical features of klinefter syndrome

A
  • decreased crown pubis
  • testicualr atrophy
  • infertility
  • gynaecomastia
  • learning difficulties
59
Q

what are most mitochondrial disease

A

myopathies and neuropathies

60
Q

what else does mitochondrial disease cause

A
  • retinal degeneration
  • diabetes mellitus
  • hearing loss
61
Q

what is most common cause of blindness in young men

A

leber’s hereditary optic neuropathy

62
Q

what detects imbalances

A

array CGH

63
Q

what environmental causes can lead to mutations

A
  • radiation
  • ultraviolet light
  • chemicals
64
Q

what is point mutations

A

substitution of one nucleotide for another

65
Q

example of disease caused by point mutation

A

sickle cell anaemia

66
Q

what is the change in sickle cell anaemia

A

GAG to GTG

67
Q

when is insertion or deletion more malicious

A

if the insertion or deletion are a multiple of 3 bases as it causes the sequence to be out of frame

68
Q

what can splicing mutations lead to

A

alter amino acid composition

69
Q

what is a nonsense mutation

A

point mutation in a sequence of DNA that results in a premature stop codon

70
Q

what is autosomal dominant disorder

A

occurs when one of the two copies has a mutation

71
Q

what are the chances of offspring inheriting disease in heterozygotes

A

50% chance of inheriting the chromosome

72
Q

what are the parents in an autosomal recessive disorder

A

both unaffected carriers

73
Q

autosomal recessive:

if carriers marry with are the chances of kids being a carrier or affected

A

1 in 4

74
Q

X-linked:

what are the chances an affected mother will pass it on

A

half the male or female offspring will be affected

75
Q

X-linked:

what are the chances an affected father will pass it on

A

all female will be affected

76
Q

example of X-linked recessive disorder

A

haemophilia A

77
Q

what will the male offspring of a male with haemophilia and a normal female be

A

male will not have the disease as they do not inherit their X chromosome form their father

78
Q

what is the inheritance of mitochondrial disease

A

incomplete penetrance maternal inheritance

79
Q

what is the altered gene in Angelman syndrome

A

UBE3A

80
Q

what are mutations used by multiple genes termed

A

polygenic

81
Q

what is risk of being affected by chromosomal abnormalities

A

low

82
Q

what is risk of being affected by mendelian disorder

A

high

83
Q

when does the risk of down syndrome increase

A

in mothers over the age of 35

84
Q

what is done at 7-11 weeks for prenatal screening

A

ultrasound to confirm viability, fatal number and gestation by crown-rump measurement

85
Q

what is done at 11-13 weeks for prenatal screening

A
  • ultrasound to detect major chromosomal abnormalities

- testing of maternal serum for pregnancy associated plasma protein

86
Q

what test are done at 14-20 weeks for prenatal screening

A
  • testing maternal serum

- quadruple test is to measure inhibin A

87
Q

what does it mean if inhibin A is high

A

down syndrome

88
Q

what test are done at 14-22 weeks at prenatal screening

A
  • ultrasound detects structural abnormalities
89
Q

when is best time to detect congenital heart defects

A

18-22

90
Q

what are the mutations in cystic fibrosis

A

F508del

91
Q

what does mutation in F508del cause

A

CFTR protein is misfiled, causing ineffective biosynthesis therefore disrupting the delivery of the protein to the cell surface

92
Q

what other mutation can cause cystic fibrosis

A

G551D

93
Q

what does mutated G551D cause

A

the channel to not open properly

94
Q

what is apoptosis

A

programmed cell death

95
Q

what are the mutation in cancer

A

somatic

96
Q

what is retinoblastoma cancer

A

eye tumour in younger children

97
Q

what tumours are likely to develop with eye tumour

A

osteosarcoma

98
Q

what are 2 major genes that are mutated in breast cancer

A

BRCA1

BRCA2

99
Q

what are oncogenes

A

those that promote cell growth

100
Q

point mutation in KRAS can cause

A
  • colorectal cacner

- pancreatic cancer

101
Q

point mutation in BRAF can cause

A
  • melanoma

- thyroid

102
Q

point mutation in ALK can cause

A

lung cancer

103
Q

DNA amplification of MYC can cause

A

neuroblastoma

104
Q

DNA amplification of HER2 can cause

A

breast cancer

105
Q

chromosome translocation between BCR and ABL can cause

A
  • chronic myeloid leukaemia
106
Q

chromosome translocation between PML and RARA can cause

A

leukaemia

107
Q

chromosome translocation between Bcl2 and IGH can cause

A

follicular lymphoma

108
Q

chromosome translocation between MYC and IgH can cause

A

Burkitt’s lymphoma

109
Q

examples of where carcinogens can be found

A
  • cigarette smoke
  • ionising radiation
  • UV light
110
Q

what can carcinogens cause

A

point mutation in genomic DNA

111
Q

what do tumour suppressor do

A

restrict undue cell proliferation

112
Q

what can mutation in tumour suppressors cause

A

uncontrolled cell growth

113
Q

example of tumour suppressor

A

p53

114
Q

in what tumours have p53 mutations been found

A
  • colorectal
  • carcinomas of breast and lung
  • brain tumour
  • osteosarcoma
  • leukaemia
115
Q

Oncogene examples

A

Ras

Myc

116
Q

Tumour suppressors

A

p53
APC
BRCA 1/2
Rb

principles (8 decks)

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