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Recall 1 Flashcards

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1
Q

EHV 1

A

DNA polymerase ORF 30 punt mutatie

Horses with ELA-A3.1 haplotype (MHC) can respond to IA protein of EHV to produce an effective CTL response

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2
Q

Ileocolonic aganglionosis / overo lethal white syndrome

A

Homozygoot abnormaal endothelin receptor Bgen (EDNRB gen)

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3
Q

Cerebellaire abiotrophy

A

Autosomaal recessief

SNP chromosoom 2 (13074277) G>A thv EXON 4 op TOE 1, proximiteit van MUTYH

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4
Q

SCC ogen haflingers

A

UV licht leidt tot mutatie tumor suppresor gen p53

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5
Q

Appaloosa ERU

A

associatie met genetische merkers thv
TRPH1 gen op ECA 1
ELA op ECA 20

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6
Q

EVA

A 
ORF 5 gen
ECA 11 (leucocyte antigen): susceptibility of CD3+ T cells
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7
Q

PSSM

A

autosomaal dominant GYS 1

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8
Q

Maligne hyperthermia

A

RYR 1

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9
Q

GBED

A

Exon 1 GBE 1 gen

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10
Q

HYPP

A

F1416L mutatie in SCN 4A

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11
Q

Myotonia congenita

A

CLCN 1 gen (recessief)

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12
Q

Myosine heavy chain myopathy

nonexertional rhabdomyolysis and immune mediated myositis

A

MYH 1

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13
Q

HHH

A

hyperornithinemia hyperammonemia homocitrullinuria syndrome: genetisch defect in ureum cyclus in Morgan foals dat leidt tot hyperammoniakemie

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14
Q

Glanzmann thrombastenia

A

kwalitatief defect of kwantitatief defect van fibrinogeen receptor op de plaatjes
GPIIa/IIIa
alfa2B beta3 integrine
CD41/61

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15
Q

Von willebrand disease

A

Kwalitatieve of kwantitatieve deficientie in VWF: verminderde binding van plaatjes op collageen en verstoring van de primaire hemostase.

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16
Q

Behandeling von willebrand disease

A

desmopressine: vasopressine analoog dat de VWF vrijstelling uit de endotheel cellen stimuleert

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17
Q

Prekallikreine deficientie

A

Intrinsieke pathway, APTT

Belgische en miniatuur paarden

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18
Q

Hemophilia A

A

Factor 8 deficientie
intrinsieke pathway
X linked recessive deficientie (vrouwelijke dieren zijn silent carriers en mannelijke dieren zijn aangetast)

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19
Q

Hemophilia B

A

Factor 9 deficientie
intrinsieke pathway
X linked recessive deficientie (vrouwelijke dieren zijn silent carriers en mannelijke dieren zijn aangetast)

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20
Q

Congenitale deficientie in Glucose-6-fosfaat dehydrogenase leidt tot..

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A

Hemolytische anemie, hyperbilirubinemie en howell joly lichaampjes

21
Q

Deficientie flavin adenine dinucleotide

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A

congenitaal leidt tot

  • methb (tgv cytochroom b5 reductase deficientie)
  • eccentrocytose (tgv gluthation reductase deficientie)
  • picnocytose
22
Q

Albinisme

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A

autosomaal dominant, geen tyrosinase

23
Q

HERDA

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A

autosomaal recessief

missense mutatie thv PPO gen dat encodeert voor cyclophiline B

24
Q

Warmblood fragine foal

causes ehler danlon syndrome (collagen prbl)

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A

autosomaal recessief
punt mutatie in eq. collageen-lysine 2 oxoglutaraal 5 deoxygenase 1 gen
PLOD1

25
Junctional epidermiolysis bullosa type 1 type 2
Type 1: autosomaal rec. LAMC 2 gen | Type 2: LAMA 3 gen
26
MRSA
resistentie tov peni en meticilline tgv gen mecA dewelke codeert voor een gewijzigde binding van penicilline op proteine 2a (PBP2a) dit heeft geen rol id virulentie, enkel in de resistentie
27
Melanomen (grijze paarden)
STX 17
28
SCID
autosomaal recessief tekort aan DNA proteine kinase activiteit dat V(D)J recombinatie voorkot arabieren defect in DNA-PK catalytic subunit
29
Fell pony syndroom immunodeficienty
mutatie in sodium myoinositol cotransporter gen SLA5A3 op chromosoom 26 leidt tot anemie, immunodeficientie en perifere ganglionopathie
30
Chestnut
MCIR recessive
31
Black
ASIP Recessive
32
Tobiano | Bont
Inversion Dominant
33
Cremello
MATP semi-dominant
34
Silver Dapple | Donker zwart met witte manen
PMEL17 Dominant
35
Sabino | vos met witte buik, vlekken
KIT dominant
36
Dominant White
KIT dominant
37
Grey premature greying melanoma
Duplication STX17 Dominant | Mutation in ASIP: increased expression MC1R gene
38
Atlantooccipital malformation
Autosomaal recessief
39
Lavender foal syndrome | Coat color dilution lethal
Arabians Myosin Va Suspected autosomaal recessive
40
Juvenile idiopathic epilepsy
Autosomaal dominant | association with LFS
41
Susceptibility for sarcoids
ELA genes = MHC I gene W13 en A2 warmbloods (W13: MHC II AG) A1 arabs A5 early onset B1 and W3 thb STB and lipizzaners: decreased to absent W13: no sarcoids Appaloosa and quarter: increased prevalence
42
Speed gene myostatin
Chromosome 18
43
RAO
Genetic predisposition IL4R A chromosome 13 | Increased mucus: Eq MUC5AC gen
44
Multiple congenital ocular anomalies MCOA
Silver dapple gene PMEL 17
45
Leopard gene
Spots on appaloosas Homozygoot: congenital stationary night blindness decrease TRPM1 gene expression TRP proteins believed to regulate intracellular calcium: alter signaling in retinal bipolar cells? Sex linked recessive (X chromosome)
46
Rhodococcus
SLC 11A1, NRAMP1 gene: iron metabolism Transferrin: D-alleles seem to protect: transferin = iron binding plasma: antibacterial effect Casp1 gene: encoding IL1beta IL7R gene; high burden with SNP mutation in this gene
47
Chronisch progressief lymfeoedeem
minder elastine in de huid ATP 2A2 FOXC2 mutatie: meest wrs
48
AF
KCNQ1 gen

Recall (2 decks)

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