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Recall > Recall 1 > Flashcards

Recall 1 Flashcards

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..

A

Hemolytische anemie, hyperbilirubinemie en howell joly lichaampjes

21
Q

Deficientie flavin adenine dinucleotide

A

congenitaal leidt tot

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

Albinisme

A

autosomaal dominant, geen tyrosinase

23
Q

HERDA

A

autosomaal recessief

missense mutatie thv PPO gen dat encodeert voor cyclophiline B

24
Q

Warmblood fragine foal

causes ehler danlon syndrome (collagen prbl)

A

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

25
Q

Junctional epidermiolysis bullosa
type 1
type 2

A

Type 1: autosomaal rec. LAMC 2 gen

Type 2: LAMA 3 gen

26
Q

MRSA

A

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
Q

Melanomen (grijze paarden)

A

STX 17

28
Q

SCID

A

autosomaal recessief
tekort aan DNA proteine kinase activiteit dat V(D)J recombinatie voorkot
arabieren
defect in DNA-PK catalytic subunit

29
Q

Fell pony syndroom immunodeficienty

A

mutatie in sodium myoinositol cotransporter gen SLA5A3 op chromosoom 26
leidt tot anemie, immunodeficientie en perifere ganglionopathie

30
Q

Chestnut

A

MCIR recessive

31
Q

Black

A

ASIP Recessive

32
Q

Tobiano

Bont

A

Inversion Dominant

33
Q

Cremello

A

MATP semi-dominant

34
Q

Silver Dapple

Donker zwart met witte manen

A

PMEL17 Dominant

35
Q

Sabino

vos met witte buik, vlekken

A

KIT dominant

36
Q

Dominant White

A

KIT dominant

37
Q

Grey
premature greying
melanoma

A

Duplication STX17 Dominant

Mutation in ASIP: increased expression MC1R gene

38
Q

Atlantooccipital malformation

A

Autosomaal recessief

39
Q

Lavender foal syndrome

Coat color dilution lethal

A

Arabians
Myosin Va
Suspected autosomaal recessive

40
Q

Juvenile idiopathic epilepsy

A

Autosomaal dominant

association with LFS

41
Q

Susceptibility for sarcoids

A

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
Q

Speed gene myostatin

A

Chromosome 18

43
Q

RAO

A

Genetic predisposition IL4R A chromosome 13

Increased mucus: Eq MUC5AC gen

44
Q

Multiple congenital ocular anomalies MCOA

A

Silver dapple gene PMEL 17

45
Q

Leopard gene

A

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
Q

Rhodococcus

A

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
Q

Chronisch progressief lymfeoedeem

A

minder elastine in de huid
ATP 2A2
FOXC2 mutatie: meest wrs

48
Q

AF

A

KCNQ1 gen

Recall (2 decks)

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