Brainscape's Knowledge GenomeTM


Top Flashcards (Certified)
All Flashcards

MRCP Master > CS: Genetics > Flashcards

CS: Genetics Flashcards

(54 cards)

Start Studying
1
Q

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

A
  • homocystinuria AR
How well did you know this?
1
Not at all
2
3
4
5
Perfectly
2
Q

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

A

Alkaptonuria AR

How well did you know this?
1
Not at all
2
3
4
5
Perfectly
3
Q

Men with BRCA mutations have an increased risk of

A

Prostate Ca

How well did you know this?
1
Not at all
2
3
4
5
Perfectly
4
Q

APC gene is responsible

A

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

How well did you know this?
1
Not at all
2
3
4
5
Perfectly
5
Q

Li-Fraumeni syndrome Sx (5)& Gene

A

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

How well did you know this?
1
Not at all
2
3
4
5
Perfectly
6
Q

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

A

AR
Homocystinuria

How well did you know this?
1
Not at all
2
3
4
5
Perfectly
7
Q

Friedreich’s ataxia inheritance

A

AR

How well did you know this?
1
Not at all
2
3
4
5
Perfectly
8
Q

Oncogene ABL

A

Cytoplasmic tyrosine kinase Chronic myeloid leukaemia

How well did you know this?
1
Not at all
2
3
4
5
Perfectly
9
Q

Oncogene c-MYC

A

Transcription factor
Burkitt’s lymphoma

How well did you know this?
1
Not at all
2
3
4
5
Perfectly
10
Q

Oncogene n-MYC

A

Transcription factor Neuroblastoma

How well did you know this?
1
Not at all
2
3
4
5
Perfectly
11
Q

Oncogene BCL-2

A

Apoptosis regulator protein Follicular lymphoma

How well did you know this?
1
Not at all
2
3
4
5
Perfectly
12
Q

Oncogene RET

A

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

How well did you know this?
1
Not at all
2
3
4
5
Perfectly
13
Q

Oncogene RAS

A

G-protein
Many cancers especially pancreatic

How well did you know this?
1
Not at all
2
3
4
5
Perfectly
14
Q

Oncogene erb-B2 (HER2/neu)

A

Tyrosine kinase receptor
Breast and ovarian cancer

How well did you know this?
1
Not at all
2
3
4
5
Perfectly
15
Q

Oncogenes

A
  • gain of function results in an increased risk of cancer
How well did you know this?
1
Not at all
2
3
4
5
Perfectly
16
Q

Tumor suppressor genes

A
  • loss of function results in an increased risk of cancer
How well did you know this?
1
Not at all
2
3
4
5
Perfectly
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

How well did you know this?
1
Not at all
2
3
4
5
Perfectly
18
Q

hepatosplenomegaly, cherry red spot on the macula

A

Niemann-Pick disease

How well did you know this?
1
Not at all
2
3
4
5
Perfectly
19
Q

angiokeratomas, peripheral neuropathy of extemeties, renal failure

A

Fabry disease

How well did you know this?
1
Not at all
2
3
4
5
Perfectly
20
Q

hepatosplenomegaly, aseptic necrosis of the femur

A

Gaucher’s disease

How well did you know this?
1
Not at all
2
3
4
5
Perfectly
21
Q

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

A

Kearns-Sayre syndrome

How well did you know this?
1
Not at all
2
3
4
5
Perfectly
21
Q

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

Study These Flashcards
A

Fabry disease
X-linked recessive

21
Q

Screening for haemochromatosis
- Gen pop
- Family members

Study These Flashcards
A

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

21
Q

Associates with T8:14

Study These Flashcards
A
  • Burkitt’s Lymphoma - 8 c-myc (oncogene) + 14 Ig heavy constant region
21
T14:18
- Follicular Lymphoma - 14 Ig heavy constant region + 18 Bcl2 (anti-apoptotic gene) *14teen-culr lymphoma*
21
T15:17
- Acute pro-myelocytic leukaemia - 15 Promyelocytic gene + 17 Retinoid acid receptor alpha (Fusion protein binds retinoid acid receptor and promotes transcription).
21
T11:14
- Mantle Cell Lymphoma - 11 - Cyclin D (oncogene) + 14 Ig heavy constant region
21
t(15;17)
Good prognosis AML
21
Alport's syndrome inheritance
X-linked dominant
21
What is RT PCR used for ?
Identify specific units of mRNA
22
Genetic abnormality and symptoms of kleinfelters
47 XXY Tall, infertile, gynaecomastia, small hard testes, lack secondary sexual characteristics, increased gonadotropin levels
23
What is the pathology of Kallman’s syndrome? features?
x-linked recessive failure of GnRH secreting neurones to migrate down into hypothalamus
24
what is the enzyme deficiency in homocystinuria? what is the amino acid affected?
cystathionine beta synthase (CBS) deficiency
25
what are the features of pseudoxanthoma elasticum?
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
Ix and Rx of Wilson’s disease
Dx: low caeruloplasmin, raised urinary copper excretion Mx: penacillamine or trientine (chelates copper)
27
Thalidomide SE Uses
Irreversible neuropathy teratogenic drowsiness Constipation and weight gain it's used to treat leprosy HIV multiple myeloma
28
Inheritance of sickle cell and what is the substitution?
AR Substitution of valine for glutamic acid
29
HNPCC/ Lynch syndrome- Causes Genes and inheritance Amsterdam criteria
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
Familial Adenomatous polyposis – -Inheritance -Predominant distributions - Mutation - Rx
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
Gardner's syndrome feature
AD Type of FAP feature osteomas of the skull and mandible, retinal pigmentation, thyroid carcinoma and epidermoid cysts on the skin
32
ADAMTS -2 gene mutation is ass w/
Ehlers-Danlos
33
Wiskott-Aldrich syndrome Defective gene Inheritance Features (7)
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
Inheritance of Majority compliment deficiencies
AR
35
Von Hippel-Lindau (VHL) Inheritance and gene Features (5)
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
BRCA1 function
DNA repair
37
What is Aneuploidies
cell has an extra or missing chromosome.
38
most common aneuploidies in humans (3 trisomies)
Trisomy 21 (Down syndrome), Trisomy Trisomy 13 (Patau syndrome). 18 (Edwards syndrome),
39
least common and most severe trisomy
Patau syndrome (trisomy 13) Microcephalic, small eyes Cleft lip/palate Polydactyly Scalp lesions
40
Edward's syndrome (trisomy 18) SX
Micrognathia Low-set ears Rocker bottom feet Overlapping of fingers
41
Fragile X sx
* Fragile X (CGG)- X-linked dominant pattern Learning difficulties Macrocephaly Long face Large ears Macro-orchidism
42
Noonan syndrome
AD Webbed neck Pectus excavatum Short stature Pulmonary stenosis
43
Pierre-Robin syndrome*
De novo Micrognathia Posterior displacement of the tongue (may result in upper airway obstruction) Cleft palate
44
Prader-Willi syndrome
Hypotonia Hypogonadism Obesity narrow forehead, almond-shaped eyes, and a triangular mouth; short stature; and small hands
45
William's syndrome
chromosome 7 Short stature Learning difficulties Friendly, extrovert personality Transient neonatal hypercalcaemia Supravalvular aortic stenosis

MRCP Master (47 decks)

Brainscape helps you reach your goals faster, through stronger study habits.
© 2025 Bold Learning Solutions. Terms and Conditions