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07 Genetics > basics > Flashcards

basics Flashcards

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1
Q

What is meant by a Robertsonian translocation?

A

Fusion of 2 acrocentric chromosomes at their centromere.

Most common translocation.

Eg. 14;21

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2
Q

What is meant by a Reciprocal translocation?

A

an exchange of genetic material between non-homologous chromosomes.

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3
Q

What is the product of mitosis?

A

2x diploid daughter cells.
All genetically identical.

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4
Q

What is the product of Meiosis?

A

4x haploid daughter cells.
All genetically different.

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5
Q

What is meant by anauploid genome?

A

A genome with too many or too few chromosomes
(Not divisible by 23)

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6
Q

Which sex Aneuploydies features being ‘tall’ ?

A

The ‘too manys’:

Triple X: 47 XXX
Kleinfelters: 47 XXY
47 XYY

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7
Q

Which aneuploidy features short stature,
normal intelligence,
streak ovaries?

A

Turner’s

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8
Q

Which aneuploidy features horse shoe kidney and aortic coarctation?

A

Turner’s

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9
Q

Which cardiovascular abnormality is seen in Turner’s?

A

aortic coarctation 10-15%
(HTN)

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10
Q

Which renal abnormalities feature in Turner’s syndrome?

A

Horseshoe kidney
Renal aplasia
Duplicate ureters

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11
Q

Describe the characteristics of Kleinfelter’s

A

tall
normal - low intelligence
hypogonadism
- testosterone <50% of norm
- poor growth of pubertal hair
- small testes

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12
Q

Why is gynaecomastia present in Kleinfelter’s?

Why is this important?

A

Imbalance of oestrogen / testosterone
-> gynaecomastia

Increased risk of breast cancer

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13
Q

Which aneuploidy features early menopause

A

Triple (47) XXX

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14
Q

How are micro deletion syndromes detected?

A

FISH
(florescent in situ hybridisation)

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15
Q

Which microdeletion gives rise to Di George syndrome?

A

22q11

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16
Q

Which microdeletion affects the elastin gene on chromosome 7?

A

William’s syndrome

17
Q

How does the microdeletion elastin gene malfunction characteristically present ?

A

supravalvular aortic stenosis
hypercalcaemia
chatty manner
low IQ

18
Q

which microdeletion syndrome features psychiatric disorder (shizophrenia) and low IQ

A

Di George

19
Q

Which microdeletion features hypocalcaemia?

A

Di George

20
Q

Which cardiac abnormalities are seen in Di George syndrome?

A

Truncus arteriosus
Interrupted aortic arch

21
Q

Regarding autosomal aneuplodies, which syndrome affects trisomy 18?

A

Edward’s

22
Q

Patau syndrome trisomy?

A

13

23
Q

Down’s syndrome:
95% non-disjunction,
5% Robertsonian translocation.. at which locus?

A

14:21

24
Q

7 phenotypic features of Down’s syndrome:

A
  1. Brachycephaly
  2. Moderate mental handicap
  3. Protruding tongue
  4. Brushfields spots (iris)
  5. Hypotonia
  6. Single plamar crease
  7. Wide sandle gap
25
Q

Which cardiovascular malformation is a common feature of Down’s syndrome?

A

AVSD

26
Q

Which common haematological abnormalities feature in Down’s syndrome?

A

Acute leukemias
(ALL + AML)

27
Q

Which common GI abnormalities feature in Down’s syndrome?

A

Duodenal atresia,
Hirschsprungs disease

28
Q

Which chromosomal aneuplody does not feature Rockerbottom feet?

A

Down’s

29
Q

Which chromosomal aneuplody features overlapping fingers?

A

Edward’s

30
Q

Which chromosomal aneuplody often features cleft lip / palate?

A

Patau

31
Q

Pataus and Edward’ feature many similar features: name them

A

mental retardation
congential heart disease
renal abnormalities
rockerbottom feet
life expectancy = early infancy

32
Q

Name the 4 purines of DNA + their hydrogen bonds

A

Adenine - (2) - Thymine
Guarnine - (3) - Cytosine

33
Q

How is RNA different to DNA?

A

Single stranded
Thymine replaced by Uracil
Ribose sugar backbone

34
Q

What is PCR?
What does it provide?

A

Polymerase chain reaction

Method to generate large volume of DNA from small sample

35
Q

Name 5 trinuceotide repeat disorders and their inheritance patterns

A

Huntington’s chorea = AD
Spinocerebellar ataxia = AD
Myotonic dystrophy = AD
Freidrich’s ataxia = AR
Fragile X = XLR

36
Q

Define ‘expansion’ in relation to repeat disorders

A

Expansion: Number of repeats above the disease causing threshold.

37
Q

Define ‘anticipiation’ in relation to repeat disorders

A

Anticipation: Unstable expansions enlarge in sucessive generations leading to increased disease severity.

38
Q

Explain Mitochrondrial disease inheritance

A

Mitochrondrial gene mutations are exclusively maternal.

39
Q

Give 2 examples of mitochrondrial disease

A

MELAS
(mitochrondiral encephalopathy, lactic acidosis, stroke like episodes)

MERRF
(myoclonic epilepsy, red ragged fibres)

07 Genetics (6 decks)

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