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PoM > Genetics > Flashcards

Genetics Flashcards

1
Q

Autosomes

A

Type of chromosome

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2
Q

Autosomal dominant disorders

A

Single gene disease
Passed down to offspring
Males and females equally affected

Can be either:- gain of function, dominant negative effect, haploinsufficient (loss of a copy

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3
Q

Horizontal pedigree pattern

A

Multiple people in a generation affected

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4
Q

X linked

A

Affect mainly males cause they only have 1 X chromosome effectively dominant
All sons of affected male healthy as they inherit the Y

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5
Q

Y link

A

Only affects males
All sons of an affected father

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6
Q

Mitochondrial inherited

A

All mitochondria inherited from mother
Develop with age due to cumulative of mutant mitochondria
Extremely variable

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7
Q

Prepare karyotype

A
  1. Collect 5ml heparainised venous blood
  2. Isolate white cells
  3. Culture in presence of phytohaemagglutinin to stimulate T lymphocyte growth
  4. 48 hours later add colchicine cause mitotic arrest (metaphase)
  5. Place in hypotonic saline
  6. Place on slide
  7. Fix and stain
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8
Q

p

A

Short arm

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9
Q

q

A

Long arm

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10
Q

pter

A

Tip of short arm

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11
Q

qter

A

Tip of long arm

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12
Q

cen

A

Centromer

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13
Q

del

A

Deletion

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14
Q

der

A

Derivative chromosome (containing extra material)

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15
Q

dup

A

Duplication

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16
Q

ins

A

Insertion

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17
Q

t

A

Translocation

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18
Q

Aneuploidy

A

Abnormal number of chromosomes

19
Q

Non- disjunction

A

Meiosis 1 or 2
Always result in either +/- 1 chromosome
When fertilised either trisomy or monosomy

20
Q

Trisomy 21

A

Karyotype: 47 +21

(Gain of part of chromosome)

21
Q

Crossing over

A

Occurs in prophase 1
Inc. genetic diversity
Chiasma forms
Can go wrong

22
Q

Cri-du-chat syndrome

A

46,XY,del(5p)

23
Q

DiGeorge syndrome

A

22q11.2 del

24
Q

Williams syndrome

A

7q11.23 del

Long philtrum
Short upturned nose
Arched eyebrows
Absence of social anxiety

25
Q

7q1a.23 duplication syndrome

A

Flat eyebrows
Autistic behaviours
Dilation of aorta
B-road nose

26
Q

p=q

A

Metacentric

27
Q

p<q

A

Submetacentric

28
Q

p«q

A

Acrocentric

29
Q

Mendelian trait

A

Controlled by a single gene

30
Q

Complex trait

A

Controlled by multiple genes and the effect of the environment

31
Q

Concordance

A

Whether trait is shared

32
Q

SNP

A

single nucleotide polymorphism
Most common mutation in genome
Change in a single nucleotide in genetic sequence

33
Q

Pharmacogenomics

A

Study of variability in drug response due to genetic differences

34
Q

Pharmacokinetics

A

What the body does to the drug

35
Q

Pharmacogenomics process

A

Absorption -> activation -> target [effect] -> inactivation -> excretion

36
Q

Hereditary haemachromatosis

A

Autosomal recessive
Mutation in homeostatic iron regulator protein -> excess iron absorption
Tiredness

37
Q

Driver mutations

A

Drive cancer initiation and progression

38
Q

Passenger mutations

A

Do not drive cancer initiation and progression

39
Q

Proto-oncogene

A

Normal gene that promotes cell growth and proliferation

Driver mutation in a proto-oncogene could lead to cancer (called an oncogene)

40
Q

Oncogene

A

Proto-oncogene with driver mutation
Can lead to cancer

41
Q

Tumour suppressor gene

A

Normal gene that produces a protein that helps limit cell growth and proliferation

Driver mutation in a tumour suppressor gene could lead to cancer

42
Q

Germline mutation

A

Mutation in reproductive cells (passed from parent to offspring)

43
Q

Somatic mutation

A

Mutation in any cell or the body except germ cells
Not passed from parent to offspring

PoM (4 decks)

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