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EMS - GiM > (1) Introduction to genetics > Flashcards

(1) Introduction to genetics Flashcards

1
Q

What is genetic counselling?

A

An education process that seeks to assist affected or at risk individuals to understand the nature of the genetic disorder, the nature of its transmission and the options open to them in management and family planning

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2
Q

What are the reasons for clinical genetics referral?

A
  • affected child/adult for investigation or diagnosis
  • family history of genetic disorder or condition with genetic component
  • foetal loss/abnormality
  • recurrent miscarriages
  • strong family history of cancer
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3
Q

What are the aims of genetic counselling?

A

Give information

  • inform people of the medical facts
  • talk about treatment and prognosis
  • explain inheritance
  • discuss chance of happening again

Talk about choices

  • whether to have genetic tests
  • whether to have more children
  • whether to have tests during pregnancy
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4
Q

How do you go about making a genetic diagnosis?

A

Family tree
- to detect a pattern of inheritance

Physical examination
- to give precise diagnosis

Genetic tests

  • chromosomes (karyotype)
  • genes (DNA testing)
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5
Q

What are the Mendelian/monogenic forms of hypertension?

A

Rare syndromes of hypo- or hyper- tension eg. pseudohypoaldosteronism, Liddle syndrome

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6
Q

Which genes are mutated in Mendelian/monogenic forms of hypertension?

A

Those involved in renal salt balance eg. ENaC, mineralocorticoid receptor gene

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7
Q

What are the Mendelian/monogenic forms of diabetes?

A

Familial forms (type 1), MODY

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8
Q

Which genes are mutated in Mendelian/monogenic forms of diabetes?

A

Glucokinase transcription factors

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9
Q

What are the Mendelian/monogenic forms of idiopathic epilepsy/migraines?

A

Familial epilepsies

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10
Q

Which genes are mutated in Mendelian/monogenic forms of idiopathic epilepsy/migraines?

A

Ion channels eg. KCNj10

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11
Q

What is Gefitinib?

A

“Iressa”

The first selective inhibitor of epidermal growth factor receptor (EGFR/HER1) tyrosine kinase domain

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12
Q

EGFR is over expressed in what?

A

In the cells of certain types of human carcinomas eg. non-small cell lung cancers

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13
Q

Mutations in the EGFR tyrosine kinase domain confer what?

A

Increased sensitivity to tyrosine kinase inhibitors such as gefitinib

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14
Q

What is the problem with gefitinib?

A

Effective in only 15% of patients with advanced NSCLC, the most common type of lung cancer

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15
Q

Give some examples of types of genetic tests

A

Genomic architecture

  • cytogenetics
  • array based techniques

Gene faults

  • sequencing
  • OLA assays
  • MLPA tests
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16
Q

What are the advantages of testing for genetic disorders?

A

Early diagnosis

  • early interventions
  • eg. deafness

Carrier testing
- reproductive choices

Prenatal testing
- reproductive choices

17
Q

What are the disadvantages of testing for genetic disorders?

A
  • do you want to know you’re going to get cancer sometimes?
  • screening might help
  • no treatment eg. alzheimers
  • affect insurance prospects?
18
Q

What are the 2 categories of personalised medicine?

A
  • pharmacogenomics

- pharmacogenetics

19
Q

What is pharmacogenomics?

A

Analysing entire genomes, across groups of individuals, to identify the genetic factors influencing responses to a drug

20
Q

What is pharmacogenetics?

A

Studying and individual’s genetic make up in order to predict responses to a drug and guide prescription

21
Q

What is Gleevec?

A

A treatment for CML which is targeted at the novel fusion protein, the product of the translocation seen in CML.

Production of white blood cells usually returns to normal

22
Q

What is the mutation in chronic myeloid leukaemia (CML)?

A

Translocation, portions of chromosomes 9 and 22 switch places

23
Q

What does the translocation in CML result in?

A

Results in the fusion of the abl gene from chromosome 9 with the BCR gene in chromosome 22

24
Q

What is the chromosome that carries the BCR/abl fusion gene called in CML?

A

The Philadelphia chromosome

25
Q

What does the BCR/abl gene in CML code for?

A

A signalling protein that triggers the uncontrolled production of white blood cells

EMS - GiM (14 decks)

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