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1MRCP Part 1 > Genetics > Flashcards

Genetics Flashcards

1
Q

Behcet’s Syndrome
Associated HLA

A

HLA 51

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2
Q

Osteogenesis Imperfecta
Associated collagen defect

A

Type 1 collagen

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3
Q

Oncogenes
- Normal function
- Abnormal function
- Examples (2)

A

Normal = promote signal pathways of cell growth
Abnormal = dominates, loss of growth control
e.g. RAS - G protein
e.g. c-myc - transcription factor
- Associated with Burkitt’s lymphoma

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4
Q

C-myc
- Type of gene
- Association

A

= oncogene
Burkitt’s Lymphoma

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5
Q

RAS
- Type of gene

A

= oncogene

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6
Q

Tumour suppressor genes
- Normal function
- Abnormal function
- Examples (2)

A

Normal = inhibit the cell cycle
Abnormal = loss of function, loss of growth control
e.g. p53
e.g. Rb gene
- Associated with retinoblastoma

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7
Q

Rb
- Type of gene
- Association

A

= tumour suppressor gene
Retinoblastoma

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8
Q

p53
- Type of gene
- Function
- Association

A

= tumour suppressor gene
Regulates apoptosis
Li-Fraumeni

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9
Q

Trisomy 21
- Most common cause
- Cardiac presentations (3)

A

Maternal non-dysjunction
- ASD (failure of fusion of inferior and superior cardiac cushions)
- PDA
- Tetralogy of Fallot

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10
Q

Patau’s Syndrome

A

Trisomy 13

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11
Q

Edward’s Syndrome

A

Trisomy 18

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12
Q

Abnormality in CML

A

Philadelphia Chromosome
9:22 translocation

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13
Q

9:22 translocation

A

= Philadelphia chromosome
CML

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14
Q

APC
- Type of gene
- Location

A

= tumour suppressor gene
- Chromosome 5
- Familial adenomatous polyposis

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15
Q

Lynch Syndrome
- Genetic problem
- Inheritance

A

= DNA mismatch repair
- Autosomal dominant

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16
Q

Inheritance - Tuberous Sclerosis

A

A dominant

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17
Q

Inheritance - hereditary spherocytosis

A

A dominant

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18
Q

Inheritance - Charcot Marie Tooth (HSMN)

A

A dominant

19
Q

Inheritance - Myotonic dystrophy
- Abnormality

A

A dominant
- Protein kinase trinucleotide repeat

20
Q

Inheritance - achondroplasia
- Abnormality

A

A dominant
- fibroblast 3 mutation

21
Q

Inheritance - cystic fibrosis
- Abnormality

A

A recessive
deletion mutation

22
Q

Inheritance - inborn errors of metabolism
Examples (5)

A

A recessive
Gaucher disease
PKU
Tay Sach’s
Homocystinuria
Glycogen storage disease

23
Q

Genetic abnormality in Huntington’s Disease
- Chromosome

A

Trinucelotide repeat
Chromosome 4

24
Q

Genetic abnormality in Frederich’s Ataxia
- Inheritance
- Chromosome

A

Trinucelotide repeat
Autosomal recessive
Chromosome 9

25
Q

Trinucelotide repeat disorders
- What do they demonstrate?
- Effect of age?

A

Genetic anticipation = presents at earlier age with each generation
Repeats expand with age = somatic instability

26
Q

Inheritance - G6PD deficiency

A

X linked recessive

27
Q

Inheritance - Duchenne and Becker Muscular Dystrophy
- Mutation type
- Severity

A

X linked recessive
Duchenne = nonsense mutation, more severe
Becker = in frame mutation, less severe

28
Q

MHC
- What is it?
- Where is it found?

A

Major histocompatibility complex
- Chromosome 6

29
Q

Class I MHC
- Where found?
- Subclasses?
- Immune response cell?

A

All nucleated cells
HLA-A, HLA-B, HLA C - get one each from each parent
CD8+ T cells respond - involved in ACUTE rejection

30
Q

Class II MHC
- Where found (3)?
- Subclasses?
- Immune response cell?

A

Dendritic cells, B cells, monophagocytes
DR2, DR3, DR4
CD4+ T cells

31
Q

HLA3

A

Haemochromatosis

32
Q

Haemochromatosis

A

HLA3

33
Q

HLA B51

A

Behcet’s Disease

34
Q

Behcet’s Disease

A

HLA B51

35
Q

HLAB27 (4)

A

Ankylosing spondylitis
Psoriatic arthritis
Reiter’s syndrome
Anterior uveitis

36
Q

HLA DR2

A

Multiple sclerosis

37
Q

Multiple sclerosis

A

HLA DR2

38
Q

HLA DR3 (6)

A

Dermatitis herpetiformis/coeliac disease
T1DM
Grave’s Disase
SLE
PBC
Myaesthenia gravis

39
Q

Dermatitis Herpetiformis

A

HLA DR3

39
Q

Acute transplant rejection
- Immune cell in control
- How occurs

A

T cell mediated
- dendritic cells found in transplant migrate to local lymph nodes and activate T cells

40
Q

T1DM

A

HLA DR3
HLA DR4

40
Q

Rheumatoid Arthritis

A

HLA DR4

40
Q

Hyperacute rejection
- Immune cell in control
- How occurs

A

B cell mediated
- Antibodies formed due to previous sensitisation BIND to endothelium
- Destruction of implant

41
Q

Genetic mutation associated with prostate cancer

A

BRAC2
(also BRAC1 but not as much)

1MRCP Part 1 (16 decks)

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