HLA

Question 1

HLA Associations

Ankylosing spondylitis?

Graves?

Celiac?

Answer 1

AS: HLA-B27:01 and 04

Graves: HLA-C07 and B08

Celiac: HLA-DQ2 and DQ8

Question 2

HLA associations:

Rheumatoid arthritis?

SLE?

Hemochormatosis?

Answer 2

RA: HLA-DRB1*91 and 04:01 and HLA-DR4

SLE: HLA-DR3 DR8 and DR15

HC: HLA-A3

Question 3

Odds of HLA matched child?

Answer 3

(1- 0..75^{# of kids})

Question 4

Triggers for:
Graves?

T1D?

Answer 4

Graves: adenovirus

T1D: Coxsackie B

Question 5

HLA associated drug sensitivty (black boxes)?
Abacvir (allele and population)
Carbamazepine (allele and population)

Answer 5

Abacvir: B*57:01; 5-8% Caucassians

Carbamazepine: B*15:02: 12% Han

Question 6

HLA associated drug sensitivty (non-black boxes)?
Allopurinol (allele and population)
Dapsone (allele and population)

Flucloxillin (allele and population)

Answer 6

Allo: B*58:01; Han 10%
Dapsone: B*13:01 Han 10%
Flucloxacillin: B*57:01 White 5-8%; same as abacavir

Question 7

What HLA-B*27 has no association with AS?

Answer 7

B*27:06; others 02, 04, 05 are associated

Question 8

Most common platelet HLA’s that mother can have in Neonatal alloimmune thrombocytopenia?

Answer 8

HPA-1b/HPA-1b; caused antibody against HPA-1a positive fetus

Rh not implicated in NAIT

Question 9

Trigger for MS?

Answer 9

MS: HSV1, HSV2, HSV3, HSV6

Question 10

Triggers for:

SLE?

Answer 10

SLE: Hep B

Question 11

Trigger for RA?

Answer 11

RA: Transfusion transmitted (TT) virus

Question 12

Risk of carrier of AR disease if asymptomatic?

Risk to offspring?

Genes are in Euchromatin or Heterochromatin?

Answer 12

2/3

2/3 * 1/4 * population risk

Euchromatin

Question 13

Eggs arrest in?

Meiosis I errors cause centromeres to be?

Most common Robersonian?

Answer 13

Prophase one also where crossing over occurs

Heterzygous; meiosis II homozygous

der(13;14); tthen der(14;21)

Question 14

Hardy Weinberg

X-linked recessive carrier risk in women?

Answer 14

p² + 2pq + q²

p + q = 1

Carrier risk: 2pq= appprox 2p

Question 15

Rate of decline of gene in population?

Half life of gene?

Selection?

Answer 15

q/(1+nq)

half life= n = 1/q

1-fitness

Question 16

AR Loss?

AD Loss?²

Answer 16

u = sq²

u=ps

Question 17

What HLA is most associated with increased risk of Celiac?

Answer 17

HLA-DQB1*03;02–low positive predictive value
AKA:

DR3-DQ2
Also: DR5-DQ7

Question 18

TPMT deals with metabolism of what drugs?

Mutations can casue what effect?

Answer 18

It inactivates thiopurines (azathioprine and 6-mercaptopurine)

Can cause higher toxicity if mutated and lower drug activity

Question 19

T/F Balanced insertions can casue inbalanced offspring?

Mutations seen in Hairy Cells and other IHC marker that is negative in Splenic Marginal Zone?

Answer 19

True

BRAF V600E; Annexin A1 positive in Hairy cell

Question 20

Medicare Part B pays for?

How to calculate average read depth?

What has more effects on primer amplification: Differences at 5’ or 3’ end?

Answer 20

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

Question 21

What base is methylated in silenced DNA?

What new heme gene has had deep intronic and synonymous non-coding variants associated with heme malignancies?

Answer 21

Cytosine in CpG dinucleotides

GATA2

Question 22

Unmodified FDA approved tests needs what minimum paramaters verified?

Sanger analytical sensitivity range?

Binimetinib target?

Answer 22

Accuracy, precision, reportable range and reference interval

15-25% for the signal to be detected

MEK

Question 23

HIV non-progressor can still have what?

CYP2C19 poor metabolizers have what *’s?

Answer 23

Proviral DNA detected on PCR

*2 or *3

Question 24

Hereditary hemochromatosis HFE most common mutation?

JC virus is what kind of virus?

IDH1 seen in what syndroms?

Answer 24

C282Y; C282Y (Cys to Tyrosine)

Polyoma

Ollier and Maffuci; enchondromas

Question 25

Pilocytic astrocytomas have what BRAF issue?

Answer 25

BRAF-KIAA1549 Tandem Duplication