HLA Flashcards
HLA Associations
Ankylosing spondylitis?
Graves?
Celiac?
AS: HLA-B27:01 and 04
Graves: HLA-C07 and B08
Celiac: HLA-DQ2 and DQ8
HLA associations:
Rheumatoid arthritis?
SLE?
Hemochormatosis?
RA: HLA-DRB1*91 and 04:01 and HLA-DR4
SLE: HLA-DR3 DR8 and DR15
HC: HLA-A3
Odds of HLA matched child?
(1- 0..75# of kids)
Triggers for:
Graves?
T1D?
Graves: adenovirus
T1D: Coxsackie B
HLA associated drug sensitivty (black boxes)?
Abacvir (allele and population)
Carbamazepine (allele and population)
Abacvir: B*57:01; 5-8% Caucassians
Carbamazepine: B*15:02: 12% Han
HLA associated drug sensitivty (non-black boxes)?
Allopurinol (allele and population)
Dapsone (allele and population)
Flucloxillin (allele and population)
Allo: B*58:01; Han 10%
Dapsone: B*13:01 Han 10%
Flucloxacillin: B*57:01 White 5-8%; same as abacavir
What HLA-B*27 has no association with AS?
B*27:06; others 02, 04, 05 are associated
Most common platelet HLA’s that mother can have in Neonatal alloimmune thrombocytopenia?
HPA-1b/HPA-1b; caused antibody against HPA-1a positive fetus
Rh not implicated in NAIT
Trigger for MS?
MS: HSV1, HSV2, HSV3, HSV6
Triggers for:
SLE?
SLE: Hep B
Trigger for RA?
RA: Transfusion transmitted (TT) virus
Risk of carrier of AR disease if asymptomatic?
Risk to offspring?
Genes are in Euchromatin or Heterochromatin?
2/3
2/3 * 1/4 * population risk
Euchromatin
Eggs arrest in?
Meiosis I errors cause centromeres to be?
Most common Robersonian?
Prophase one also where crossing over occurs
Heterzygous; meiosis II homozygous
der(13;14); tthen der(14;21)
Hardy Weinberg
X-linked recessive carrier risk in women?
p2 + 2pq + q2
p + q = 1
Carrier risk: 2pq= appprox 2p
Rate of decline of gene in population?
Half life of gene?
Selection?
q/(1+nq)
half life= n = 1/q
1-fitness
AR Loss?
AD Loss?2
u = sq2
u=ps
What HLA is most associated with increased risk of Celiac?
HLA-DQB1*03;02–low positive predictive value
AKA:
DR3-DQ2
Also: DR5-DQ7
TPMT deals with metabolism of what drugs?
Mutations can casue what effect?
It inactivates thiopurines (azathioprine and 6-mercaptopurine)
Can cause higher toxicity if mutated and lower drug activity
T/F Balanced insertions can casue inbalanced offspring?
Mutations seen in Hairy Cells and other IHC marker that is negative in Splenic Marginal Zone?
True
BRAF V600E; Annexin A1 positive in Hairy cell
Medicare Part B pays for?
How to calculate average read depth?
What has more effects on primer amplification: Differences at 5’ or 3’ end?
Physician Services, Outpatient Services, Outpatient care (mental health, therapy, and durable medical equipment).
Total thru-put/total target area
3’ end affects binding and amplification
What base is methylated in silenced DNA?
What new heme gene has had deep intronic and synonymous non-coding variants associated with heme malignancies?
Cytosine in CpG dinucleotides
GATA2
Unmodified FDA approved tests needs what minimum paramaters verified?
Sanger analytical sensitivity range?
Binimetinib target?
Accuracy, precision, reportable range and reference interval
15-25% for the signal to be detected
MEK
HIV non-progressor can still have what?
CYP2C19 poor metabolizers have what *’s?
Proviral DNA detected on PCR
*2 or *3
Hereditary hemochromatosis HFE most common mutation?
JC virus is what kind of virus?
IDH1 seen in what syndroms?
C282Y; C282Y (Cys to Tyrosine)
Polyoma
Ollier and Maffuci; enchondromas
Pilocytic astrocytomas have what BRAF issue?
BRAF-KIAA1549 Tandem Duplication
