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IMS > Topic 11 Clinical Genetics > Flashcards

Topic 11 Clinical Genetics Flashcards

1
Q

If genes have a low penetrance, what does this mean

A

small infleunce in determining disease susceptibility

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2
Q

Mendelian disorders are mutations in what genes

A

single genes

affecting proteins/receptors

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3
Q

In multifactorial genetic diseases, how many organ systems are affected

A

one organ system

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4
Q

if multiple organ systems are affected, what category of genetic disease is it

A

chromosomal disorder

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5
Q

if a choroid plexus cyst is found in the brain, what may this indicate

A

downs

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6
Q

microdeletion of

22q 11.2

A

DiGeorges Syndrome

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7
Q

DiGeorges syndrome 3 symptoms

A

small mouth
prominent nose
congenital heart defects

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8
Q

microdeletion

7q 11.23

A

Williams Beuren Syndrome

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9
Q 
Wide mouth
Upturned nose
Long philtrum
Flattened nasal bridge
Heart defects
A

Williams Beuren Syndrome

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10
Q

lack of dystrophin and disorganisation of fibres

A

X-linked Duchenne muscular dystrophy

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11
Q

Name 4 autosomal dominant diseases

A

Adult polycystic kidneys dis

Huntingtons disease

Neurofibromatosis

polyposis coli

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12
Q

Name 4 autosomal recessive

A

CF

phenylketonuria

spinal muscular atrophy

congenitial adrenal hyperplasia

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13
Q

Leber Hereditary Optic Neuropathy

A

mitochondria mutation

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14
Q

what is the most common form of cancer

A

sporadic cancer

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15
Q

Sporadic cancer is inherited how?

A

inherited dominantly

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16
Q

Chorea is what?

What is it found in

A

Involuntary jerking / twitching

Huntingtons Disease

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17
Q

CAG trinucleotide repeated passed down from generation to generation leading to earlier onset on symptoms.

what is this phenomenon called

A

anticipation

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18
Q

in phenylketonuria, what is absent

A

Phenylalanine Hydroxylase (PAH)

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19
Q

Pegvaliaase (Palynziq) is a PEGylated phenylalanine ammonia lyase (PAL) designed for what

A

reducing phenylalanine in phenylketonuria

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20
Q

Alkaptonuria has what absent?

A

Homogentisate dioxygenase

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21
Q

Neonatal screening is done via what

A

Tandem mass spectrometry

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22
Q

the most common inherited metabolic disease

what sort of mutation is it

A

Familial Hypercholesteraemia

autosomal mutation in LDLR

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23
Q

Tendinous Xanthomas on hands / heels is a sign of what

A

FH

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24
Q

Xanthelasmata + Arcus Cornealis is a sign of what

A

FH

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25
Q

Tay Sachs Disease is a disorder of what

A

lysosomal storage disorder

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26
Q

Tay Sachs Disease what is absent

what does this lead to

A

Hexosaminadase A deficient

accumulation of GM2 in brain
death due to pneumonia

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27
Q

where is Tay Sachs Disease prevalent in

A

jewish population

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28
Q

in the G1 phase, what is duplicated and whats not

A

cellular contents duplicated

chromosomes not

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29
Q

in S phase, what is duplicated

A

chromosomes

46

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30
Q

What is done in the G2 phase

A

cell checks for errors

makes repairs

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31
Q

G0 phase

A

cell cycle arrest

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32
Q

Stages of cell division in order

A

Prophase
Metaphase
Anaphase
Telophase

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33
Q

“Chromatin condenses into chromosomes “

A

prophase

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34
Q

“Nuclear envelope disappears

Chromosomes align at equatorial plate”

A

Metaphase

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35
Q

“Sister chromatids separate

Centromeres divide”

A

Anaphase

36
Q

“Chromatin expands

Cytoplasm divides”

A

Telophase

37
Q

where does Chiasma form

A

meiosis

38
Q

In G banding, what stain is used

A

Giesma

39
Q

P arm is what

A

short arm

40
Q

Light bands are rich in what?

they replicate early in what phase

A

GC rich (less condensed chromatin)

S phase

41
Q

Dark bands are rich in what?

They replicate when

A

AT rich (condensed chromatin)

Replicates late

42
Q

what phase is the only time when chromosomes are visible

A

metaphase

43
Q

in trisomies, by how much is produced extra

A

1.5x

44
Q

in deletions/monosomies how much is produced less

A

0.5x

45
Q

Tetraploidy = how many chromosomes

A

92

46
Q

in triploidy = how many chromsoomes

A

69

47
Q

Name 5 numerical chromosome abnormalities

A 
Edwards (tri18)
Patau (tri13)
Down (tri21)
Turner (45x)
Klinefelter (47XXY)
48
Q

for every 16 days from puberty, what forms

A

4 spermatozoa form

49
Q

2 Secondary spermacytes form what

A

4 spermatids

50
Q

Marfan disease is what disorder?

What is the mutation rate relative to

A

CT disorder

relative to older age

51
Q

Achondroplasia disease is what

What is the mutation rate relative to

A

Disproportionate dwarfism

relative to older age

52
Q

22 mitotic cell division by 5 months of gestation produces how many oocytes

A

2,600,000 oocytes

53
Q

how many polar bodies are formed in ovulation and fertilisation

A

2

54
Q

in non disjunction in meiosis 1, what 2 type of cells are formed

A

2x Disomic gametes

2x Nullsomic gametes

55
Q

in non disjunction in meiosis 2, what cells are formed

A

Disomic

Nullisomic

monosomic

2x normal

2x abnormal

56
Q

what causes mosaicism

A

embryo undergoes abnormal seperation of chromosomes in one of its cells

normal fertilization

57
Q

what does mosaicism lead to?

what affects the phenotypic expression of it

A

2 population of cells

depends on how early the non-disjunction event was

58
Q

mosaicism is found in down syndrome…. what % parental origin is it?

A

92% paternal

59
Q

mosaicism is found in Edwards syndrome…. what % parental origin is it?

A

90% maternal

60
Q

clenched hands and overlapping fingers are found in what syndrome

A

Edwards Syndrome

61
Q

Affects midline structures
Incomplete lobation of brain
Cleft lip
Congenital heart disease

are found in what syndrome

A

Patau syndrome

62
Q

patau syndrome is what % parental origin

A

85% maternal

63
Q

Infertility
Poor secondary characteristics
Tall
Gynecomastia

is found in what syndrome
what is its karotype

A

klinefelters syndrome

XXY

64
Q

what parental origin is klinefelters syndrome

A

55% maternal

65
Q 
Short stature 
Primary amenorrhoea 
Congenital heart disease 
Low hairline / narrow hip development
Hyperconvex nails

is found in what syndrome
what is its karotype

A

Turners Syndrome

45, x

66
Q

in Robertsonian translocation, what happens

A

fusion of 2 chromosomes

from breaking of 2 acrocentric chromosomes close to centromeres

67
Q

what chromosomes are found in robertsonian translocation

A

13 / 14 / 15 / 21 / 22

68
Q

what is lost in robertsonian translocation?

what is fused

A

short arm lost

long arm fusion

69
Q

breaking of 2 non-homologous chromosome is what sort of translocation?

A

reciprocal

70
Q

Genetic change associated with neoplastic / cancer disease process is what

A

Acquired Cytogenetic abnormalities

71
Q

Acquired Cytogenetic abnormalities example

A

Chromosome 9 –> 22

Philly gene (CML 90%)

72
Q

In neoplasm follicular lymphoma, what is translocated?

A

Bcl-2 oncogene (18–>14)

73
Q

what happens in neoplasm follicular lymphoma

A

Neoplastic proliferation of B-lymphocytes

as Bcl-2 gene is constantly activated which suppresses cell death

74
Q
  • BM
  • Lymph nodes
  • Solid tumours
  • Chorionic Villi (CVS)

are contain what type of cells

A

Spontaneously proliferating cells

75
Q

How many days culturing does blood lymphocytes need?

How many days culturing does amniotic fluid samples need?

A

3 days

10 days

76
Q

name an example of heteroploidy

A

Neoplasm follicular lymphoma

77
Q

FISH

A

Fluorescence in situ hybridization

78
Q

FISH is done on what 2 cell division phases

A

metaphase

interphase

79
Q

Comparative genome hybridization can show what

A

loss/gain of chromosomes regions

80
Q

name the procedure of DNA PCR and temperatures

A

Denaturation (94)
Annealing of primers (55)
Primer extension (72)
Amplification (72)

81
Q

Primers in PCR are what length?

A

15-30

82
Q

optimum temperature for DNA polymerase is what

A

75*

83
Q

what is used in the termination of a DNA strand

why is it used

A

ddTTTP

no 3’ hydroxyl group
cant form next phosphodiester bond

84
Q

MEGF10 mutation is found in what

A

muscular dystrophy

85
Q

In Oligonucleotide Ligation Assay (OLA), if ligation fails what does this indicate

A

Missmatch

point mutation

86
Q

what results in point mutation

A

2 mutant alleles

IMS (25 decks)

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