Genetics Flashcards

1
Q

Most common chromosomal defect type in down’s

A

Non disjunction in 94%
Robertsonian translocation in 5%
Mosaicism in1%

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2
Q

genetics of Haemochromatosis

A

auto recessive

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3
Q

Rule about autosomal dominant Vs recessive

A

Autosomal recessive conditions are ‘metabolic’ - exceptions: inherited ataxias are ‘structural’ but recessive

Autosomal dominant conditions are ‘structural’ - exceptions: Gilbert’s, hyperlipidaemia type II

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4
Q

Genetics of Peutz-Jeghers syndrome

A

Auto dominant.

numerous hamartomatous polyps in the GI tract, with pigmented freckles on the lips, face, palms and soles..

.50% of patients will have died from another GI cancer by the age of 60 years

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5
Q

Genetics and features of myotonic dystrophy

A

Dystrophia myotonica -DM1

distal weakness initially
autosomaldominant
diabetes
dysarthria

Can have cateracts

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6
Q

Genetics of haemochromatosis

A

Autosomal recessive disorder of iron absorption / metabolism

HFE gene chromosome 6

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7
Q

Prognosis with Philadelphia translocation t(9;22)

A

GOOD in CML

BAD in AML + ALL

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8
Q

Molecular biology techniques blot plotting….

A

SNOW DROP
South NOrth West -ern blotting techniques
DNA RNA Protein

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9
Q

DiGeorge Syndrome mnemonic

A

It has a variable presentation however its features can be remembered with the mnemonic CATCH22:

C -Cardiac abnormalities

A - Abnormal facies

T - Thymic aplasia
Tetany hypocal due to paraThyroid
T-cell deficiency due to Thymus

C -Cleft palate

H -Hypocalcaemia/ hypoparathyroidism

22 - Caused by chromosome 22 deletion

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10
Q

What diagnosis for following translocations

11;14
8;14 
9;22 
14;18
15,17
A

11;14 -> 11 looks like a M -> Mantle
8;14 -> 8 looks like B -> Burkitt
9;22 -> 9 looks like flipped P -> Philadelphia
14;18 -> 4licular/ follicular lymphoma
15,17 -> well it’s none of the above :D -> it’s the long name Acute Promyelocytic Leukemia.

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11
Q

Polycystic kidney disease type 1 and 2 chromosomes

A

16 and 4

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12
Q

Homocysteinuria Vs cysteinuria

A

Both auto recessive
Homocyst isa disorder in metabolism of methionine,an amino acid, causing vitamin b12, b6 , folate deficiency

Cysteinuria is too much cysteine (amino acid) in urine, kidney stones

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13
Q

Genetics of congenital nephrogenic diabetes insipidus

A

X-linked mutation in the vasopressin (ADH) receptor gene (the more common form)

Autosomal recessive defect in the aquaporin 2 gene (the less common form)

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14
Q

Genetics of Marfan’s

A

FBN1 gene on chromosome 15 that codes for the protein fibrillin-1

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15
Q

HLA association with coeliac

A

I ate (8) too (2) much gluten at Dairy Queen - for Celiac Disease DQ8/DQ2

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16
Q

HLA association with rheumatoid arthritis

A

There are 4 walls in a ‘rheum’ (room) - for Rheumatoid A. HLA DR4

This is also asssx with T1DM, and less so DR3

17
Q

HLA association for multiple sclerosis

A

Multiple Hay Pastures have DiRT - Multiple sclerosis, Hay fever, Goodpasture synd. for HLA DR2

18
Q

genetics of achondroplasia

A

70-80% is from sporadic/spontaneous mutation, but following this it tends to be autosomal dominant

19
Q

X-linked Dominant conditions

A

Alports (in 85%, the rest auto R, very rare auto D)
Rett Syndrome
Vit D resistant Rickets

20
Q

will children of man with Alports have the condition?

A

X-linked Dom

So sons wont have it, daughters will

21
Q

inheritance of mitochondrial disease

A

all children of male will NOT inherit
all children of female will inherit.

although poor genotype:phenotype correlation
muscle biopsy may show red ragged fibres (due to increased mitochon)

22
Q

most common cardiac abnormality in Down’s

A

Endocardial cushion defect (AKA Atrioventricular septal canal defect)

23
Q

Which LQT syndrome is associated with deafness?

A

Jowel and Lange-Nielson syndrome has profound deafness

RomaNO ward = NO deafness

24
Q

ATP7B is the dysfunctional protein associated with…

A

… Wilson’s disease.

25
Which deficiency is associated with haemochromatosis?
HFE
26
JAK-STAT is the mutation associated with...
primary polycythaemia ruba vera
27
Glucuronyl transferase deficiency causes...
Gilbert disease
28
What chromosome is mutation on ADPKD 1?
polycystic kidney ... 16 letters... chromosome 16 (ADPKD type 1) Sixteen/cysteen?
29
Chromosomes re neurofibromatosis 1 and 2
NF1: chromosome 17 - as neurofibromatosis has 17 characters NF2: chromosome 22 - all the 2's (2x schwannomas
30
Genetics of Edwards syndrome
Trisomy 18
31
What mutation cause Marfan's
mutation in a protein called Fibrillin-1 marFans - Fibrillin
32
Genetics of familial hypercholesterolemia
Auto dom Mostly heterozygous Homozygous die in teenage years
33
HLA associated with T1DM
HLA DR4 And to less extent DR3
34
What is mutation in gitelman
NaCl symporter | Normotensive
35
Mutation in barters
Na-K-Cl cotransporter Normotension + Hypokalaemia = Gitelman's & Bartter's
36
Mutation in Liddel
Hypertensive hypokal Na channels in DCT
37
HLA bronchiectasis
DR1