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AC1 > Week 8 > Flashcards

Week 8 Flashcards

1
Q

A defect in which gene causes cystic fibrosis?

A

CFTR (Cystic Fibrosis Transmembrane Regulator)

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2
Q

What is the most common CFTR mutation?

A

ΔF508

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3
Q

What does the CFTR transporter control?

A

Controls chloride transport across epithelial membranes (mucous, sweat, saliva, tears and digestive enzymes)

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4
Q

Which 9 conditions are screened in newborn screening?

A
  • Cystic fibrosis
  • Sickle cell
  • Congenital hypothyroidism
  • Medium-chain acyl-CoA dehydrogenase deficiency (MCADD)
  • Maple syrup urine disease (MSUD)
  • Isovaleric acidaemia (IVA)
  • Glutaric aciduria type I (GAI)
  • Homocystinuria (Pyridoxine unresponsive) (HCU)
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5
Q

What are some symptoms of cystic fibrosis?

A
  • Meconium ileus
  • FTT (failure to thrive)
  • Sinusitis
  • Recurrent LRTIs
  • Greasy/bulky stools
    Prolapse
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6
Q

Other than newborn heel prick test, how would you screen for cystic fibrosis?

A 
Sweat test
CF kids are salty
- Pilocarpine and current
- Collect sweat
- Measure chloride content
- Can be confirmed with gene testing
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7
Q

What are some treatments for cystic fibrosis?

A
  • Antibiotics +++ inhaled, oral and IV
  • Pulmonary Rehab – Physio, airway clearance techniques
  • The Vest
  • DNAse
  • Transplant
  • High calorie diet
  • Creon - amylase, lipase and protease
  • ADEK vitamins
  • Kalydeco or kaftrio
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8
Q

What are some external features of Trisomy 21?

A
  • Hypotonia
  • Upward slanting palpebral fissures
  • Brachycephaly - flat occiput
  • Clinodactly with short 5th finger
  • Protruding tongue
  • Flat nasal bridge
  • Epicanthal folds
  • Brushfield spots (spots on iris)
  • Ear abnormalities (low set ears, stenotic meatus)
  • Single palmar crease
  • Loose nuccal skin
  • Short fingers
  • Sandal gap
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9
Q

What are some internal features of Trisomy 21?

A
  • AVSD, VSD, ASD
  • Hirschprung’s disease - lack of nerves in rectum
  • Duodenal atresia, trachea-oesophageal fistula
  • Low IQ (mean 50)
  • ENT issues
  • Hypothyroidism
  • Atlanto-axial instability
  • Cataracts
  • Transient abnormal myelopoiesis –> Acute Myeloid Lymphoma
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10
Q

What genetic abnormality is Edward’s syndrome?

A

Trisomy 18

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11
Q

What are some features of Edward’s syndrome?

A
  • Clenched hand, with overlap of the 2nd and 5th fingers, over the 3rd and 4th
  • Rocker bottom feet
  • Micrognathia, prominent occiput, micro-ophthalmia
  • Low set ears
  • VSD/ASD
  • Generalised muscle spasticity
  • Renal abnormalities
  • Mental retardation
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12
Q

What genetic abnormality is Patau’s syndrome?

A

Trisomy 13

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13
Q

What are some features of Patau’s syndrome?

A
  • Holoprosencephaly
  • Polydactyly
  • Seizures
  • Deafness
  • Microcephaly
  • Midline cleft lip/palate
  • Abnormal ears
  • Sloping forehead
  • Cutis aplasia
  • Omphalocele
  • Cardiac and renal anomalies
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14
Q

What genetic abnormality is Turner’s syndrome?

A

45 X0

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15
Q

What are some features of Turners syndrome?

A
  • Low birth weight and length
  • Short stature
  • Low posterior hairline
  • Webbed neck
  • Puffy hands and feet (due to lymphedema)
  • Shield chest and wide spaced nipples
  • Cubitus valgus - elbows turned inward with forearms deviated outwards
  • high palate
  • low set ears
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16
Q

What is the genetic abnormality in Klinefelter’s syndrome?

A

47, XXY

17
Q

What are some features of Klinefelter’s syndrome?

A
  • 1 in 600 male births
  • Usually presents in adolescence
  • Muscle weakness
  • Increased height
  • Poor coordination
  • Reduced body hair
  • Gynaecomastia
  • Reduced libido
  • Primary hypogonadism
  • Low testosterone
  • High FSH
  • Microorchidism
  • Infertility
18
Q

What is the genetic abnormality in Williams syndrome?

A

7Q11.23 deletion

19
Q

What are some features in Williams syndrome?

A
  • 1/1000 births
  • Elastin region
  • IQ differences
  • Characteristic “elfin” facies:
  • Short nose, broad nasal tip
  • Small widely spaced teeth
  • Small chin
  • Wide mouth
  • Puffy eyes
  • Full cheeks
  • Full lips
  • Can appear more gaunt as adult
  • Supravalvular aortic stenosis
  • Hypercalcaemia
  • Diabetes
  • Hypothyroidism
  • Visuo-spatial and numerical difficulties
  • Spoken language and music abilities
  • Cocktail party chatter/personality
  • overfriendliness
  • lack of fear with stranger
  • strong pro-social compulsion
  • excessive talkativeness
  • verbal fluency with extensive and expressive speech rich in vocabulary
20
Q

What is the genetic abnormality in Prader-Willi syndrome?

A

Deletion of paternal 15Q11-Q13

21
Q

What are some features of Prader-Willi syndrome?

A
  • Characteristic facies
  • Distinctive evolution of condition
  • Impaired hypothalamic function

Early features:

  • Hypotonia
  • Failure to thrive
  • Poorly developed genitals
  • Developmental delay (walking 24m, enhanced VP skills)
  • Hyperphagia
  • Tantrums –> psychosis

Later features:

  • Central obesity
  • IHD
  • Type 2 DM
  • OSA
  • Short stature
  • Hypogonadism: incomplete, delayed or abnormal pubertal development. Men are thought to be infertile
  • Intellectual disability
22
Q

What is the threshold model?

A
  • Some polygenic diseases do not show a normal distribution but instead are either present or absent (mimicking a single gene disorder)
  • These traits show a liability distribution:
  • Those with few disease associated alleles or limited exposure to environmental factors have a limited chance of developing the disease
  • Those with more disease associated alleles or more exposure to environmental factors have an increased chance of developing the disease
23
Q

What is epistasis?

A
  • ‘Gene-gene interactions’

- Combined variant effects qualitatively or quantitatively different from single effects

24
Q

What is pleiotropy?

A
  • Single gene/variant causative of different traits
  • Affected traits not always obviously related
  • Antagonistics pleiotropy
25
Q

What happens in a polymerase chain reaction?

A
  • Denaturation of DNA
  • Annealing of primers
  • Extension of primers
26
Q

What can quantitative assay be used for?

A
  • Detect and quantify viral, bacterial and fungal pathogens
  • Quantify expression of oncogenes
  • Analyse gene splicing variants
27
Q

What is reverse transcription?

A
  • Identified in many organisms, including viruses, bacteria, animals and plants
  • Converts RNA sequences to cDNA sequences that are capable of inserting into different areas of the genome
  • Eg. propagation of retroviruses eg. HIV, SARS-Cov-2
28
Q

What is hybridisation?

A
  • The process of combining two complementary single-stranded DNA or RNA molecules and allowing them to form a single double-stranded molecule through base pairing
  • Part of many important laboratory techniques such as polymerase chain reaction and Southern blotting
29
Q

What is blotting?

A

Blotting is the process by which DNA, RNA or proteins are transferred onto a membrane in order to be visualised

30
Q

What are the different types of blotting and what do they detect?

A

Southern blot - DNA
Northern blot - RNA
Western blot - protein

AC1 (9 decks)

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