Genetics Flashcards

1
Q

What are single nucleotide variants?

A

Missense
Nonsense
Splice site alteration

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2
Q

What is a missense mutation?

A

Amino acid substitution

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3
Q

What is a nonsense mutation?

A

Generation of a stop codon

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4
Q

What is a splice site alteration?

A

Defective splicing of the DNA

Resulting from change to donoe or acceptor splice site.

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5
Q

What is an in frame indel?

A

Insertion or deletion mutation

Results in gain or loss of an amino acid

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6
Q

How many nucleotides must be deleted inorder for there to be an in frame indel?

A

3,6,9

Must be whole codons deleted

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7
Q

What is an out of frame indel?

A

Insertion or deletion but not of whole codons

e.g. 2, 5 , 7 nucleotides deleted

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8
Q

What is a frequent issue with out of frame indels?

A

They often create stop codons.

Protein is detrimentally short

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9
Q

List some benefits of genetic screening of patients

A

Allows early detection before symptomatic
Prognostic information on course of disease
Allows peace of mind or prevention for couples looking to start a family.
Development of novel focused treatments
Improved understanding of the disease

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10
Q

What are the there primary tumours in Multiple endocrine neoplasia type 1?

A

Parathyroid
Pancreas
Pituitary

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11
Q

Where else is often affected in MEN1?

A
Neuroendocrine
Thymic
Bronchial
Gastric
Adrenal
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12
Q

What is the gene affected in MEN1?

A

11q13

Loss or reduced protein function

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13
Q

What is the survival rate of a patient with MEN1?

A

50%

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14
Q

What is particularly difficult in MEN1?

A

The mutation can occur anywhere within 11q13 gene.

As a result there is a wide variety of clinical and pathological features can’t be predicted.

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15
Q

Why are the survival rates low in MEN1?

A

As there is no specific tailored treatment

Treatment is there for individual treatment for pancreatic pituitary tumour etc

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16
Q

What would indicate a need for a genetic screen for MEN1?

A

Familial link
2 or MEN1 associated tumours
Recurrent parathyroid tumours and hyperparathyroidism

17
Q

What degree of relation is indicative of a need to do a screen for MEN1?

A

First degree relative

18
Q

How is MEN1 passed down?

A

Autosomal dominant

1 in 30,000

19
Q

Where is affected in multiple endoplasmic neoplasia type 2?

A

Parathyroid
Thyroid C cell
Adrenal Chromaffin cells

20
Q

What gene is affected in MEN2?

A

10q

RET gene

21
Q

What kind of gene is RET?

A

Proto oncogene

A gene which when activated causes cellular division

22
Q

What is different in MEN2 to MEN1?

A

The specific RET gene makes clinical features and onset very predictable, also a more targeted therapeutic site.

23
Q

In MEN2A what are the related tumours?

A

Medullary Thyroid cancer
Paechromocytoma
Parathyroid

24
Q

In MEN2B what are the related tumours

A

Medullary thyroid cancer
Paechromocytoma
+/- Mucosal neurom, intestinal autonomin dysfunction

25
Q

When do the Medullary thyroid cancers usually develop in MEN2?

A

Within first few years of life

26
Q

What is RET?

A

Tyrosine kinase receptos

Activation triggers oncogenic pathway