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BOD I > Genetic Basis Of Disease > Flashcards

Genetic Basis Of Disease Flashcards

1
Q

Genes are chatting nonsense? What dem say!

A

They introduced a premature stop codon into the mix. So the protein terminate early and is shortened!!

Him non-functional!

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2
Q

Missense mutation

A

Only a single codon is changed in the entire DNA sequence. Leading to a different AA being coded in for the protein

Can be different.
But also nothing can happen!

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3
Q

Silent mutation 🤐

A

Doesn’t alter the AA sequence cos multiple codons can code for the same one

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4
Q

Frameshift mutation

A

The reading frame is shifted out of. Alignment leading to a random AA sequence

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5
Q

What are the single gene mutations

A

silent,
nonsense,
Missense

Frameshift

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6
Q

Autosomal dominant inheritance

A

Only one parent has to code for to genes for it to be passed on. And expressed

Each biological child of the parents has a 1 in 2 (50%) chance of getting the bad trait

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7
Q

Autosomal recessive inheritance

A

Both parents had the bad gene. Meaning their children have a 1 in 4 (25%) chance of getting the bad gene

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8
Q

X-linked inheritance

A

Genetic conditions that are carried on the X chromosome.

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9
Q

Why are males usually affected with X linked diseases

A

They only have 1 X whereas females have 2. So usually one of her other X chromosomes are normal whilst the other one is bad so she’s not affected

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10
Q

Examples of diseases that are

Autosomal dominant

Autosomal recessive

X-linked

A

Dominant: Polycystic Kidney Disease (pkd)

Recessive: PRA in dogs

X-linked: muscular dystrophy (usually in labs)

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11
Q

What’s the difference with PCR testing vs. Serological test for detecting disease agents/ exposure

A

PCR looks for the DNA or cDNA

Serological test looks for the antibodies in the blood serum. Antibodies are proteins.

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12
Q

Which test (PCR or serological test) can be used for an active infection and which can be used for a previous infection?

A

PCR is for active current infections

Serological testing is for previous infections

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13
Q

Genetic

A

Is a disease caused by defects in the genes

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14
Q

Heritable (familial)

A

Diseases that are transmitted in the germ line from one’s parents

(Its in the genes)

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15
Q

Congenital

A

Born with it

(Looks like the word contigo, like with me, cos you born with it)

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16
Q

Why would a genetic disease be suspected in a veterinary patient

A

If theres a family history of disease for a specific condition, multiple anomalies in one patient, and unexplained neurocongnitive impairment or breed specific predispositions to certain diseases

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17
Q

What are some failure to develop completely congenital defects

A

A genesis/aplasia, hypoplasia, and atresia

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18
Q

What are examples of failure to close or coalesce

A

Palatoschisis. Patent, foramen ovale of the heart

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19
Q

What are examples of failure to close on the abdominal wall

A

Hernia
Schistosomus reflexes

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20
Q

General defects

A

Disturbances of cartilage and bone formation (dwarfism. And chondrodystrophy)

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21
Q

Examples of improper mix of tissues

A

Hamartomas (birthmarks)

Hairy eyeball (an example)

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22
Q

Persistent vestigial or embryonic structures

A

Thyroglossal duct remnants, parovarian cysts from paramesonephric duct remnants, persistent ductus arteriosis

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23
Q

Abnormal location (ectopic, aberrant)

A

Pancreatic tissue in wall of intestines, adrenal tissues in the equine testicle

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24
Q

Supernumerary organs and duplications

A

Polydactyl
Supernumerary teats

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25
Cellular or enzymatic defects
Lysosomal storage disease
26
You suspect HYPP (hyperkalemic periodic paralysis) why?
Heavy musculature horse Autosomal dominant Sodium ion channel is disrupted resulting in excessive potassium in the blood (hyperkalemia) Causing muscles to contract more than normal. Affected horses usually have unpredictable muscle tremors or paralysis. And in severe cases lead to collapse or sudden death due to cardiac arrest or respiratory failure
27
You think patient might have muscular dystrophy, why?
It’s a male lab retriever It is X-linked The body produces a defective version of dystrophin protein. With no functional dystrophin the muscle membranes cells are leaky. Substances that should be inside the cell leak out and enter the cell. Leaky membranes lead to abnormalities in muscle structure and function. Can lead to respiratory distress and pneumonia
28
Chediak-Higashi Syndrome is on your differentials why?
Common in cats. Cows and mink Autosomal recessive Characterised by impaired immune function, hypopigmentation (albinism) and. Tendency to bleed Cause of the mutation of the LYST gene which affects the trafficking of lysosomes in cells and other symptoms like bleeding problems and susceptibility infections
29
Dense deposit disease (D3) is suspected, but why?
Patient is a Norwegian Yorkshire pig D3 is caused by deficiency in complement protein factor H Leads to uncontrolled activation of complement system, resulting in kidney damage (glomerulonephritis and membraneopeoliferative)
30
Why do you suspect complement deficiency
Complement is a set of small immune system proteins that helps other parts of the immune system fight off infections. Congenital lack of complement protein C3 is found in Brittany Spanials. They usually have recurrent bacterial infections especially skin diseases and pneumonia
31
Why do you think your patient has Agammaglobulinemia
It’s a thoroughbred, quarter horse or a standard horse It’s possibly X-linked It’s characterised by inability to produce all types of antibodies and low-levels of B-cells resulting in increased risk of infection Affected horses develop pneumonia joint infections, laminitis and skin infections and gastrointestinal infections
32
Your 10 o’clock is a male Bassett hound what disorder is top of your differentials
Canine SCID Because it has a small dysplastic thymus and during the neonatal period, SCID dogs have few if any peripheral T-cells and increased number of peripheral B-cells. This is a major pathological feature of canine SCID There is also a mutation in the gamma subunit of IL-2, IL-4, IL-7, IL19, IL-15
33
What are primary immunodeficiencies
They are a congenital or genetic defect
34
You’re on a farm call for a neonatal Arabian horse what is a differential you come up with?
SCID Autosomal recessive in Arabian horses Mutation of DNA-dependant protein kinase gene which codes for a critical enzyme to the development of the immune system and the ability to protect against infections Affected foals don’t produce functional B and T lymphocytes and cannot mount a good immune response to challenges, this means SCID foals are extremely susceptible to viral, bacterial, fungal, and protozoan infections and they usually aren’t able to recover
35
Explain SCID in terms of being a primary immunodeficient syndrome
Defects in both humoral and cell-mediated immunity that affects the T and B cells Autosomal recessive in horses (Arabian or Arabian crosses) X0linked in dogs (Bassett hounds)
36
Explain agammaglobulinemia in terms of being a primary immunodeficient syndrome
Absence of mature B lymphocytes and plasma cells
37
In which animal is IgA more common and what happens
Dogs and usually results in diseases that occur on the mucosA Mucosal infections Normal numbers of IgA type of plasma cells (synthesis or secretion defect) Suppurative enteritis (normal amount of IgA in plasma cells but they don’t work) G. Sheep Shar Peis Irish Setters Beagles
38
IgM is common in what animals and what happens
IgM is more common in some Foals Leads to septicaemia and pneumonia
39
Thymic hypoplasis Non-specific And chediak-higashi syndrome All of the above are examples of primary or secondary immunodeficient syndromes?
Primary
40
What is secondary immunodeficient syndrome(s)
It is acquired as a complication of infections, malnutrition, ageing, or chemotherapy.
41
What is a mutagen
A physical or chemical agent that can alter (change) DNA. Resulting in an increased incidence of mutation
42
A cow eats _____ on_____ of gestation can lead to cyclopia in her calf
Veratrum califonicum Day 14
43
Amino acids make ___ which then string together to make____
Peptides Proteins
44
What is a Frameshift deletion
When a series of nucleotides are deleted from a DNA sequence But it is not in a series or multiple of 3 This leads to a shift in the reading frame
45
What are the 3 modes of inheritance
1 autosomal recessive 2. Autosomal dominant 3. X-linked
46
What are examples of chromosomal aberrations
Duplication Inversion Deletion Insertion Translocation
47
List the major causes of congenital defects
Genetic Environmental (teratogens) Multifactorial (genetic and the environment)
48
List some examples of teratogens
Chemicals Drugs Plants Radiation Infectious agents
49
What are some viruses that can cause congenital defects
Feline parvovirus BVDV Blue tongue virus
50
What is the principle of teratogenesis
Genetic (species) susceptibility Stage of development at exposure Dose
51
Immunodeficiency syndromes can affect ___ or ___immune responses
Acquired Immune
52
What is the clinical presentation of SCID
Small thymus Lack of lymphoid follicles in tissues Sever lymphopenia (B and T cells)
53
What is thymic hypoplasia
T lymphocytes deficiency Defective cell-mediated immune responses
54
What a makes PCR test specific
Primers
55
What is a primer that is used for PCR
Tiny DNA pieces that bind to a specific section of target DNA it also acts as a starting point for transcription
56
HypoVOLEMic shock
Looks like the word volcano so it has to do with burns and trauma haemorrhage fluid loss and anaphylaxis
57
Neurogenic shock
Anaesthetic accident CNS or emotional trauma
58
Cardiogenic shock
Myocardial failure, cardiac tamponade, pulmonary embolism
59
Septic shock
Endotoxemia G+ septicaemia Fungal sepsis Superantigens
60
What is compensated reversible shock
VasoCONstriction Maintain CO and BP Make sure blood perfusion goes to the vital organs
61
What is irreversible decompensated shock
Organ dysfunction…..it’s all gone to hell in flames!! Multiple organ function failure!
62
Shock organs of cats
Lungs and intestines Clinical signs: diarrhoea Vomitting Dyspnea
63
Shock organs of dogs
Liver and Lungs Clinical signs: vomitting Diarrhoea Collapse
64
Shock organs of horses
Lungs and intensities Clinical signs: Dyspnea and diarrhoea
65
Shock organs of Pigs
Lung and intestines Clinical signs: Dyspnea and cyanosis *pigs go from pink to blue!*
66
Shock organs of cattle and sheep
Lungs Clinical signs: cough and Dyspnea
67
What is the difference between the modes of heredity for SCID in horses vs dogs
In dogs it is X-linked (Bassett hounds) In horses it is recessive
68
Is chediak-higashi syndrome dominant or recessive
Recessive
69
Is HYPP (hyperkalemic periodic paralysis) dominant or recessive
Dominant (Remember to be hyper is to have a lot or more energy so HYPERkalmeic is dominant!)

BOD I (1 decks)

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