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Medicine > Week 1 - Genetics > Flashcards

Week 1 - Genetics Flashcards

1
Q

Name 4 examples of Autosomal Dominant inherited diseases

A

1) Achondroplasia
2) Huntington’s disease
3) Inherited Colon and Breast cancer
4) NF1

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2
Q

Define:

Variable expression

A

Variation in severity of a genetic disorder in individuals with the same mutation.

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3
Q

Define:

Penetrance

A

Frequency of phenotypic expression of genotype. (or the chance of developing the disease if you have the mutation)

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4
Q

Define:

Modifier gene

A

Genes that can affect penetrance and severity of condition in a individual (FGFR2 variants on BRCA2).

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5
Q

AD inheritance:

what is the pattern of inheritance?

A

Vertical, effecting both males and females.

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6
Q

Name 2 examples of Autosomal Recessive inherited diseases

A

1) Cystic fibrosis

2) Sickle Cell Anemia

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7
Q

AR inheritance:

what is the pattern of inheritance?

A

Horizontal, effecting both males and females.

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8
Q

Name 2 examples of X-linked recessive diseases

A

1) Duchenne muscular dystrophy.

2) Becker’s muscular dystrophy.

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9
Q

X-linked recessive:

what is the pattern of inheritance?

A

Knights move, mostly males affected (no male to male transition).

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10
Q

Name 2 examples of X-linked dominant diseases

A

1) Vitamin D resistant rickets

2) Rett syndrome

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11
Q

X-linked dominant:

what is the pattern of inheritance?

A

Vertical, more commonly seen in females then males (2:1 ratio).

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12
Q

What 4 things are required for a cell to become cancerous?

A

1) Avoid apoptosis
2) Insensitivity to anti-growth signalling
3) Bypassing replicative senescence
4) Promotes proliferative signalling

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13
Q

What are 3 ways Tumour Suppressor genes work?

A

1) Inhibit progression through the cell cycle (TP52, APC)
2) Promote apoptosis (TP53, BAX)
3) Act as a stability gene (BRCA1/2, HNPCC)

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14
Q

how do Proto-oncogenes function?

A

Promote cell division by stimulating the cell cycle

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15
Q

How do Proto-oncogene mutations lead to its tumourgenic effect?

A
  • Is called Oncogene when mutated
  • When it mutates it “gains function” leading to over proliferation of cells
  • Only one copy required for tumorgenic effect
  • Not usually inherited
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16
Q

How do Tumour Suppressor Gene Mutations lead to its tumourgenic effect?

A
  • When it mutates it is a “loss of function” that leads to tumorgenic effect
  • Requires two inactivated gene copies for tumorgenic effect
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17
Q

How do Stability Genes function?

A

Minimise genetic alterations by acting as DNA repair genes.

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18
Q

What are 3 features of familial cancers?

A

1) Uncommon
2) Early onset
3) Multiple primary tumours

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19
Q

What are 3 features of Sporadic (non-inherited) cancers?

A

1) Common
2) Late onset
3) Single primary Tumour

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20
Q

What is Genetic Anticipation?

A
  • The number of Mutations (specifically repeating codes) increases with each generation
  • Leading to increasing severity and earlier onset in successive generations.
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21
Q

Name 3 Diseases with Genetic Anticipation?

A

1) Huntington’s (CAG)
2) Fragile X syndrome
3) Myotonic Dystrophy (CTG)

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22
Q

What is Pseudo-dominant inheritance?

A

A Autosomal Recessive condition that looks Autosomal Dominant due to high carrier frequency

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23
Q

What is Mitochondrial inheritance?

A
  • Mitochondria has its own genome which we inherit from our mothers
  • Mutations lead to syndromes that often affect eyes, muscles and brain (e,g, Leigh’s disease)
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24
Q

What is the mode of inheritance in Huntington’s disease?

A

Autosomal Dominant with genetic anticipation

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25
Q

What are the symptoms of Huntington’s disease?

A

1) Involuntary movements (Chorea)
2) Dementia
3) Psychiatric problems
4) Underweight due to dysphagia

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26
Q

What is the Genetic mutation associated with Huntington’s disease?

A
  • Repetition of CAG codon in the HTT gene

- Over 40 repetitions needed for disease

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27
Q

What is the mode of inheritance in Myotonic Dystrophy?

A

Autosomal Dominant with genetic anticipation

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28
Q

What are the symptoms of Myotonic Dystrophy?

A

1) Progressive muscle weakness
2) Inability to relax muscles after effort (myotonia)
3) Cataracts

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29
Q

What is the Genetic mutation associated with Myotonic Dystrophy?

A
  • Repetition of CTG codon in the DMPK gene

- Over 50 repeats needed for disease

30
Q

What is the mode of inheritance in Cystic Fibrosis?

A

Autosomal Recessive

31
Q

What are the symptoms of Cystic Fibrosis?

A

1) Recurrent lung infection
2) Exocrine pancreas insufficiency
3) Bronchiectasis
4) Male infertility

32
Q

What is the Genetic mutation associated with Cystic Fibrosis?

A
  • F508 deletion on the CTFR gene (deletion of Pheylalanine)

- In frame deletion (only one AA effected)

33
Q

How do you diagnose Cystic Fibrosis?

A

1) Screen newborns blood for immunoreative trypsin (raised in CF)
2) DNA testing
3) sweat testing for raised Cl- ions

34
Q

What is the Genetic mutation associated with Down Syndrome?

A

Trisomy 21

35
Q

What are the signs and symptoms of Downs Syndrome?

A

1) Learning difficulties
2) Congenital heart malformations
3) Hypothyroidism

36
Q

What is the Genetic mutation associated with Edwards Syndrome?

A

Trisomy 18

37
Q

What are the signs and symptoms of Edwards Syndrome?

A

1) Small chin
2) Learning disabilities
3) Overlapping fingers
4) Organ malformation

38
Q

What is the Genetic mutation associated with Patau syndrome?

A

Trisomy 13

39
Q

What are the signs and symptoms of Patau Syndrome?

A

1) Micropthalmia
2) Abnormal ears
3) Cleft lips and palate
4) post axial polydactyly (extra pinky) (don’t remember the fancy name)

40
Q

What mutations are commonly associated with an increased risk of breast cancer?

A

1) BRCA1
2) BRCA2
3) TP53
4) PTEN

41
Q

What type of genes are BRCA?

A
  • Stability genes

- The function is DNA repair by homologous recombination of double stranded breaks

42
Q

What mutations are commonly associated with an increased risk of Ovarian cancer?

A

1) BRCA1
2) BRCA2
3) HNPCC genes (MLH 1/2)
4) RAD51C

43
Q

What is the target of the Pharmacological treatment of ovarian cancer?

A
  • PARP inhibition (Olaparib)
  • Cancer cells with BRCA1 mutations rely on PARP (another gene) to replicate, therefore by inhibiting this pathway the cancer cells cannot replicate.
44
Q

What are the 3 familial (inherited) colon cancers?

A

1) Hereditary Non-Polyposis Colorectal Cancer (Lynch syndrome or HNPCC)
2) Familial adenomatous polyposis
3) MYH polyposis

45
Q

What mutations are associated with Hereditary Non-Polyposis Colorectal Cancer?

A

1) MLH1
2) MSH2
3) MSH6

46
Q

What are class of genes do MLH1, MSH2 and MSH6 belong to?

A

DNA mismatch repair genes

47
Q

What other organs are at risk of developing polyps in patients with HNPCC?

A

1) Uterus
2) Stomach
3) Ovaries

48
Q

What mutation is associated with Familial Adenomatous Polyposis (FAP)?

A

Mutation of the APC gene on chromosome 5

49
Q

What is Familial Adenomatous Polyposis (FAP)?

A

It is a AD inherited predisposition for colorectal cancers, patients may initially have large numbers of benign polyps in the colon that can become malignant.

50
Q

What is MYH polyposis?

A

It is a mild form of FAP that is AR, presents with less colon polyps and has a lower chance of becoming malignant then FAP.

51
Q

What mutation is associated with MYH polyposis?

A

Mutation of the BER (base excision repair gene)

52
Q

What is Li Fraumeni Syndrome?

A

It is an autosomal dominant cancer predisposition syndrome

53
Q

Name 4 cancers that Li Fraumeni Sydrome predisposes?

A

1) Breast cancer
2) Brain tumours
3) Sarcoma
4) Leukaemia

54
Q

What is the mode of inheritance in Neurofibromatosis 1 (NF1)?

A

Autosomal Dominant

55
Q

What are the symptoms of Neurofibromatosis 1 (NF1)?

A

1) flat pigmented birth marks (Cafe au lait macules)
2) Benign skin and nerve sheath tumours (neurofibromas)
3) Short stature
4) Macrocephaly

56
Q

What is the Genetic mutation associated with Neurofibromatosis 1 (NF1)?

A

NF1 gene (a TSG gene)

57
Q

What is the mode of inheritance in Duchenne’s Muscular Dystrophy?

A

X-linked recessive

58
Q

What are the symptoms of Duchenne’s Muscular Dystrophy?

A
  • Early onset of symptoms ~ 3yrs old
  • Delayed walking
  • Progressive muscle weakness
59
Q

What is the Genetic mutation associated with Duchenne’s Muscular Dystrophy?

A

Out of frame deletion on the DMD gene, this gene is responsible for coding the protein Dystrophin that is required for muscle formation.

60
Q

What is the mode of inheritance Becker’s Muscular Dystrophy?

A

X-linked recessive

61
Q

What are the symptoms of Becker’s Muscular Dystrophy?

A
  • Early onset of symptoms ~ 12yrs old
  • Delayed walking
  • Progressive muscle weakness
  • Less severe then Duchennes
62
Q

What is the Genetic mutation associated with Becker’s Muscular Dystrophy?

A

In frame deletion on the DMD gene

63
Q

What is the mode of inheritance in Fragile X Syndrome?

A

X-linked recessive with genetic anticipation

64
Q

What are the symptoms of Fragile X Syndrome?

A

Most common inherited cause of significant learning disabilities

65
Q

What is the Genetic mutation associated with Fragile X Syndrome?

A

CGG repeating codons in the FMR1 gene

66
Q

What chromosomal abnormality is found in Turner Syndrome?

A

Only one X sex chromosome in females (X)

67
Q

What chromosomal abnormality is found in Kleinfelters Syndrome?

A

An additional X sex chromosome in males (XXY)

68
Q

What 2 techniques would you use to detect an unknown point mutation?

A

1) Sanger sequencing

2) Massively parallel sequencing

69
Q

What technique would you use to detect a known point mutation?

A

Allele Specific PCR (ARMS)

70
Q

What technique would you use to detect unknown duplication’s or deletions?

A

Array Competitive Genomic Hybridisation (aCGH)

71
Q

What technique would you use to detect known duplication’s or deletions?

A

MLPA-PCR

72
Q

What 3 techniques would you use to detect Aneuploidies?

A

1) Quantitative fluorescent PCR (QF-PCR)
2) Karyotyping (light microscope)
3) Fluorescence in situ hybridization (FISH)

Medicine (4 decks)

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