Translocations, Genes, HLA, Abs, Ags

61 terms by atpeckham

Create a new folder

Advertisement Upgrade to remove ads

chromosome translocations important gene mutations & chromosome location HLA associations with disease antibodies antigens, e.g. tumor markers

t(9;22)

CML (Philadelphia chrom)

t(8;14)

Burkitt's lymphoma

t(14;18)

Follicular lymphoma

t(15;17)

M3 type of AML

t(11;22)

Ewing's sarcoma

t(11;14)

Mantle cell lymphoma

HLA A3

Hemochromatosis

HLA B8

Graves' disease

HLA B27

* "PAIR"
* psoriasis
* ankylosing spondylitis
* inflammatory bowel Dz
* Reiter's syndrome

HLA DR2

* multiple sclerosis
* goodpastures (anti-GBM)
* narcolepsy
* systemic lupus erythematosus

HLA DR3

* type 1 DM
* Sjögren's
* [dermatitis herpetiformis]

HLA DR4

* rheumatoid arthritis
* type 1 DM
* pemphigus vulgaris

HLA DR5

* Pernicious anemia (--> B12 defic)
* Hashimoto's thyroiditis

HLA DQ2

Celiac Dz

del(22.q11.2)

* DiGeorge Syndrome ("CATCH 22")
* Cardiac defects, Abnormal facies, Thymic aplasia, Cleft palate, Hypocalcemia/Hypoparathyroid
* 3rd & 4th pharyngeal pouch formation defects

trisomy 21

* Down Syndrome [MC viable trisomy (1:700)]
- quad screen: decr AFP, incr B-HCG, decr E3, incr inhibin A
- ultrasound: incr nuchal translucency
- mental retardation
- flat facies
- prominent epicanthal folds
- simian crease
- duodenal atresia
- congenital heart dz (MC: septum primum type ASD)
- incr risk of ALL & alzheimer's

trisomy 18

* Edward's Syndrome (2nd MC trisomy)
- micrognathia (small jaw)
- low-set ears
- clenched hands
- prominent occiput
- congenital heart Dz
- severe mental retardation
- rocker-bottom feet
- death by age 1

trisomy 13

* Patau syndrome (3rd MC trisomy)
- polydactyly
- cleft lip/palate
- holoprosencephaly
- micropthalmia (small eyes)
- microcephaly
- congenital heart Dz (cardiac dextroposition, septal defects)
- severe mental retardation
- rocker-bottom feet
- death by age 1

APC gene

* chrom 5 ["polyp" has 5 letters]
* Familial Adenomatous Polyposis

antimicrosomal

hashimotos thyroiditis

antithyroglobulin

hashimoto's thyroiditis

anti-DNA topoisomerase I (anti-Scl-70)

Diffuse scleroderma - more aggressive

anti-centromere antibody

CREST scleroderma - more benign

antinuclear antibodies

SLE - non-specific
sjogren's, scleroderma, polymyositis, dermatomyosystis, arthritis, juvenile arthritis, mixed connective tissue disease

anti-dsDNA, anti-smith

specific for SLE

antihistone

drug-induced lupus

anti-IgG

Rheumatoid factor
(RA)

anti-cyclic citrullinated protein

rheumatoid arthritis - more specific than RF

anti-mitochondrial

primary biliary cirrhosis

anti-gliadin, anti-endomysial, antitransglutaminase

celiac

anti-basement membrane (collagen type IV)

goodpasture's

anti-desmoglein

pemphigus vulgaris

anti-Jo-1

polymyositis, dermatomyositis

anti-SS-A (anti-Ro)

Sjogren's syndrome
ribonucleoprotein

anti-SS-B (anti-La)

sjogren's

anti-U1 RNP (ribonucleoprotein)

mixed connective tissue disease

anti-smooth muscle

autoimmune hepatitis

anti-glutamate decarboxylase

type 1 diabetes mellitus

c-ANCA - central anti-neutrophilic antibody

* Wegener's ("granulomatosis w polyangiitis")
* proteinase-3 enzyme (PR3)

p-ANCA - peripheral

* myeloperoxidase (MPO) enzyme - nonspecific
* vasculitis: Churg-Strauss, microscopic polyangiitis
* ulcerative colitis & primary sclerosing cholangitis (strong association b/w)

thyroid-stimulating immunoglobulin (TSI)

* Grave's
* Ab which activates TSH-R

urine metanephrine

most specific for pheocromocytoma
24 hrs
also catecholamine

gamma glutamyl transpeptidase

cholestatic disease of the liver
alkaline phosphatase will be high also (same as bone dysfunction)

S-100

* melanoma
* schwannoma

CA-125

malignant ovarian epithelial cells in serous, endometriod, and clear cell carcinomas of the ovary

anti-bodies U1ribo-nucleo-protein

mixed connective tissue disease

anti-saccharomyces cerevisiae (ASCA)

Crohn's disease

CEA tumor marker

colorectal cancer
pancreatic adenocarcinoma (CA-19-9 as well)

5-HIAA in urine

Serotonin syndrome

prostatic acid phosphatase

prostate carcinoma

alpha-fetoprotein

hepatocellular carcinomas, nonseminomatous germ cells (testis)

beta-hCG

hydatidiform moles
choriocarcinomas
gestational trophoblastic tumors

alkaline phosphatase

metastases to bone, obstructive biliary disease
paget's disease of bone

bombesin

neuroblastoma, lung, gastric cancer

TRAP

tartrate-resistant acid phosphatase (TRAP) is positive in hairy cell leukemia [also CD103+]

CA-19-9

pancreatic adenocarcinoma

BMPR2 Mutation

* ~ 50% of familial pulmonary artery HTN (PAH)
* ~ 10-15% of idiopathic PAH (IPAH)
* Rare in other types of PAH (eg, anorexigens)
* Modulates vascular cell growth by activating kinases"

ALK1 Mutations

* Pulmonary artery HTN (PAH) assoc/w hereditary hemorrhagic telangiectasia (ie, Osler-Weber-Rendu)"
* Shares same signaling abnormalities as BMPR2

11q23 rearrangements

common in M5 acute monocytic leukemia - infiltrates gums

t(12;21)

acute lymphoblastic leukemia

JAK2 mutation

polycythemia rubra vera, 50% of primary myelofibrosis, & 50% of essential thombocytothemia

Please allow access to your computer’s microphone to use Voice Recording.

Having trouble? Click here for help.

We can’t access your microphone!

Click the icon above to update your browser permissions above and try again

Example:

Reload the page to try again!

Reload

Press Cmd-0 to reset your zoom

Press Ctrl-0 to reset your zoom

It looks like your browser might be zoomed in or out. Your browser needs to be zoomed to a normal size to record audio.

Please upgrade Flash or install Chrome
to use Voice Recording.

For more help, see our troubleshooting page.

Your microphone is muted

For help fixing this issue, see this FAQ.

Star this term

You can study starred terms together

NEW! Voice Recording

Create Set