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MRCP Master > CS: Genetics > Flashcards

CS: Genetics Flashcards

1
Q

Tall, long fingered, downward lens dislocation, learning difficulties, DVT

A
  • homocystinuria AR
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2
Q

brown/bluish pigment of the ear cartilage or sclera, arthropathy, renal stones, cardiac valve involvement and coronary calcification.

A

Alkaptonuria AR

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3
Q

Men with BRCA mutations have an increased risk of

A

Prostate Ca

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4
Q

APC gene is responsible

A

colorectal tumours in which ras and p53 mutations are also often involved.

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5
Q

Li-Fraumeni syndrome Sx (5)& Gene

A

Rare AD, mutation in the P53 gene-
- soft tissue sarcomas,
- breast carcinoma,
- glioblastoma,
- lymphoma
-leukaemia.

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6
Q

Tall, long fingered, downward lens dislocation, learning difficulties, DVT

A

AR
Homocystinuria

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7
Q

Friedreich’s ataxia inheritance

A

AR

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8
Q

Oncogene ABL

A

Cytoplasmic tyrosine kinase Chronic myeloid leukaemia

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9
Q

Oncogene c-MYC

A

Transcription factor
Burkitt’s lymphoma

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10
Q

Oncogene n-MYC

A

Transcription factor Neuroblastoma

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11
Q

Oncogene BCL-2

A

Apoptosis regulator protein Follicular lymphoma

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12
Q

Oncogene RET

A

Tyrosine kinase receptor Multiple endocrine neoplasia (types II and III)

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13
Q

Oncogene RAS

A

G-protein
Many cancers especially pancreatic

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14
Q

Oncogene erb-B2 (HER2/neu)

A

Tyrosine kinase receptor
Breast and ovarian cancer

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15
Q

Oncogenes

A
  • gain of function results in an increased risk of cancer
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16
Q

Tumor suppressor genes

A
  • loss of function results in an increased risk of cancer
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17
Q

Developmental delay
Cherry red spot on the macula, without hepatomegaly or splenomegaly

A

Tay-Sachs disease is a type of lysosomal storage disease

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18
Q

hepatosplenomegaly, cherry red spot on the macula

A

Niemann-Pick disease

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19
Q

angiokeratomas, peripheral neuropathy of extemeties, renal failure

A

Fabry disease

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20
Q

hepatosplenomegaly, aseptic necrosis of the femur

A

Gaucher’s disease

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21
Q

mitochondrial inheritance
onset < 20-years-old
external ophthalmoplegia
retinitis pigmentosa

A

Kearns-Sayre syndrome

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21
Q

proteinuria, early onset strokes or MI with a typical rash known as angiokeratomas

A

Fabry disease
X-linked recessive

21
Q

Screening for haemochromatosis
- Gen pop
- Family members

A

general population: transferrin saturation > ferritin
family members: HFE genetic testing

21
Q

Associates with T8:14

A
  • Burkitt’s Lymphoma - 8 c-myc (oncogene) + 14 Ig heavy constant region
21
Q

T14:18

A
  • Follicular Lymphoma - 14 Ig heavy constant region + 18 Bcl2 (anti-apoptotic gene)
    14teen-culr lymphoma
21
Q

T15:17

A
  • Acute pro-myelocytic leukaemia - 15 Promyelocytic gene + 17 Retinoid acid receptor alpha (Fusion protein binds retinoid acid receptor and promotes transcription).
21
Q

T11:14

A
  • Mantle Cell Lymphoma - 11 - Cyclin D (oncogene) + 14 Ig heavy constant region
21
Q

t(15;17)

A

Good prognosis AML

21
Q

Alport’s syndrome inheritance

A

X-linked dominant

21
Q

What is RT PCR used for ?

A

Identify specific units of mRNA

22
Q

Genetic abnormality and symptoms of kleinfelters

A

47 XXY

Tall, infertile, gynaecomastia, small hard testes, lack secondary sexual characteristics, increased gonadotropin levels

23
Q

What is the pathology of Kallman’s syndrome?

features?

A

x-linked recessive
failure of GnRH secreting neurones to migrate down into hypothalamus

24
Q

what is the enzyme deficiency in homocystinuria?

what is the amino acid affected?

A

cystathionine beta synthase (CBS) deficiency

25
Q

what are the features of pseudoxanthoma elasticum?

A

auto rec abnormality in elastin fibres
plucked chicken skin appearance - small yellow papules on neck and axillae
retinal angoid streaks
cardiac: mitral valve prolapse, increased risk of IHD
GI haemorrhage

26
Q

Ix and Rx of Wilson’s disease

A

Dx: low caeruloplasmin, raised urinary copper excretion
Mx: penacillamine or trientine (chelates copper)

27
Q

Thalidomide
SE
Uses

A

Irreversible neuropathy
teratogenic
drowsiness
Constipation and
weight gain
it’s used to treat leprosy HIV multiple myeloma

28
Q

Inheritance of sickle cell and what is the substitution?

A

AR
Substitution of valine for glutamic acid

29
Q

HNPCC/ Lynch syndrome-
Causes
Genes and inheritance
Amsterdam criteria

A

most common form of inherited colon cancer. Usually the proximal colon, which highly aggressive.
Higher risk of other cancers (endometrial cancer most common) The most common genes involved are:

  • MSH2 (60% of cases)
  • MLH1 (30%)
    The Amsterdam criteria are sometimes used to aid diagnosis:
  • at least 3 family members with colon cancer
  • the cases span at least two generations
  • at least one case diagnosed before the age of 50 years
30
Q

Familial Adenomatous polyposis –
-Inheritance
-Predominant distributions
- Mutation
- Rx

A

AD
> 100 polyps before 40 y.o = carcinoma
- predominantly left sided distribution.
-mutation APC tumour suppressor gene on chromosome 5.
RX total colectomy with ileo-anal pouch formation in their twenties.

31
Q

Gardner’s syndrome feature

A

AD
Type of FAP
feature
osteomas of the skull and mandible,
retinal pigmentation,
thyroid carcinoma and
epidermoid cysts on the skin

32
Q

ADAMTS -2 gene mutation is ass w/

A

Ehlers-Danlos

33
Q

Wiskott-Aldrich syndrome
Defective gene
Inheritance
Features (7)

A

Wiskott-Aldrich syndrome
-Defect in WASP gene
- X-linked recessive. Variable penetrance

-recurrent bacterial infections,
-eczema,
-thrombocytopaenia.
-Low IgM levels
-Increased risk of autoimmune disorders and
-malignancy

34
Q

Inheritance of Majority compliment deficiencies

A

AR

35
Q

Von Hippel-Lindau (VHL)
Inheritance and gene
Features (5)

A

Von Hippel-Lindau (VHL)
AD
VHL gene on chromosome 3

Features
1. cerebellar haemangiomas: these can =SAH
2. Retinal haemangiomas: vitreous haemorrhage
3. renal cysts (premalignant)
4. phaeochromocytoma
5. extra-renal cysts: epididymal, pancreatic, hepatic
endolymphatic sac tumours
clear-cell renal cell carcinoma

36
Q

BRCA1 function

A

DNA repair

37
Q

What is Aneuploidies

A

cell has an extra or missing chromosome.

38
Q

most common aneuploidies in humans (3 trisomies)

A

Trisomy 21 (Down syndrome), Trisomy
Trisomy 13 (Patau syndrome).
18 (Edwards syndrome),

39
Q

least common and most severe trisomy

A

Patau syndrome (trisomy 13)
Microcephalic, small eyes
Cleft lip/palate
Polydactyly
Scalp lesions

40
Q

Edward’s syndrome (trisomy 18) SX

A

Micrognathia
Low-set ears
Rocker bottom feet
Overlapping of fingers

41
Q

Fragile X sx

A
  • Fragile X (CGG)- X-linked dominant pattern

Learning difficulties
Macrocephaly
Long face
Large ears
Macro-orchidism

42
Q

Noonan syndrome

A

AD
Webbed neck
Pectus excavatum
Short stature
Pulmonary stenosis

43
Q

Pierre-Robin syndrome*

A

De novo
Micrognathia
Posterior displacement of the tongue (may result in upper airway obstruction)
Cleft palate

44
Q

Prader-Willi syndrome

A

Hypotonia
Hypogonadism
Obesity

narrow forehead, almond-shaped eyes, and a triangular mouth; short stature; and small hands

45
Q

William’s syndrome

A

chromosome 7
Short stature
Learning difficulties
Friendly, extrovert personality
Transient neonatal hypercalcaemia
Supravalvular aortic stenosis

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