Flashcards in Genetics Deck (83)
What is the typical incidence of rare things?
What is the typical incidence with 1 risk factor?
What is the typical incidence with 2 risk factors?
What is the typical incidence with 3 risk factors?
What does Autosomal Dominant usually indicate?
Structural problems, 50% chance of passing it on
What does Autosomal Recessive usually indicate?
Enzyme deficiency, 1/4 get it, 2/3 carry it
What are the x-linked recessive deficiencies?
"Lesch-Nyhan went Hunting For Pirates and Gold Cookies"
LeschNyhan (HGPRT def): self mutilation, gout, neuropathy
Hunter's (iduronidase def)
Fabry's (alpha galactosidase def): corneal clouding, attacks baby's kidneys
G-6PD deficiency: infxns, hemolytic anemia
Chronic Granulomatous Dz: NADPH oxidase deficiency
Where did x-linked Recessive diseases come from?
From maternal uncle or grandpa
What are the X-linked Dominant diseases?
Na-resistant rickets (kidney leaks phosphorus): waddling gait
Pseudohypoparathyroidism: sausage digits, osteodystrophy
Where did X-linked Dominant diseases come from?
What are the Mitochondrial diseases?
Leber's = atrophy of optic nerve
Leigh's= subacute necrotizing encephalomyelopathy
Where did Mitochondrial diseases come from?
Mom-> all kids
Why do we stop CPR after 20-30 mins?
The brain has irreversible cell injury
Why do we only have 6 hrs to use t-PA?
The body has irreversible cell injury
What is Turner's
(X,O): web neck, cystic hygroma, shield chest, coarctation of aorta, rib notching
What is Klinefelter's?
(47,XXY): tall, gynecomastia, infertility, decrease testosterone
What is XXX syndrome?
(47,XXX): normal female w/two Barr bodies
What is XYY syndrome?
(47, XYY): tall agressive male
What is trisomy 13?
Patau's, polydactyly, high arch palate, pee problem, holoprosencephaly
What is trisomy 18?
Edward's, rocker bottom feet
What is trisomy 21?
Down's, simian crease, wide 1st/2nd toes, macroglossia, mongolian slant of eyes, brushfield spots, retardation
What disease has a dinucleotide repeat?
HNPCC (Hereditary nonpolyposis colorectal cancer)
What disease have Trinucleotide repeats?
Huntington's, Fragile X, Myotonic Dystrophy, Friedreichs Ataxia
What is Agelman's?
"Happy puppet syndrome", ataxia
What is Prader-Willi?
Hyperphagia, hypogonadism, almond shaped eyes
What is Kallman's?
Anosmia, small testes
What is Anaplasia?
Regress to infantile state
What is Atrophy?
Decreased organ or tissue size
What is Desmoplasia?
Cell wraps itself w/dense fibrous tissue
What is Dysplasia "carcinoma in situ"?
Lose contact inhibition (cells crawl on each other)
What is Hyperplasia?
Increased cell number
What is Hypertrophy?
Increased cell size
What is Metaplasia?
Change from one adult cell type to another
What is Neoplasm?
What is Benign?
Well circumscribed, freely movable, maintains capsule, obeys physiology, hurts by compression, slow growing
What is Malignant?
Not well circumscribed, fixed, no capsule, doesn't obey physiology, hurts by metastasis, rapidly growing (outgrows blood supply) -> hunts for blood -> secretes angiogenin and endostatin to inhibit blood supply of other tumors.
What are the fastes killing cancers?
Pancreatic cancer, esophageal cancer
What does Adeno - tell you?
What does Leiomyo- tell you?
What does Rhabdomyo - tell you?
What does Hemangio - tell you?
What does Lipo- tell you?
What does Osteo - tell you?
What does Fibro - tell you?
What does -oma tell you?
What does -carcinoma tell you?
What does -sarcoma tell you?
Connective Tissue cancer
What is Hamartoma?
Abnormal growth of normal tissue
What is Choristoma?
Normal tissue in the wrong place
What is the most common anterior mediastinum tumor?
What is the most common middle mediastinum tumor?
What is the most common posterior mediastinum tumor?
What organs have the most common occurrence of metastasis?
Brain (grey-white jxn)
Bone (bone marrow)
Liver (portal vein, hepatic artery)
Adrenal glands (renal arteries)
Pericardium (coronary arteries)
What cancers have psammomma bodies?
What cancer has CA-125?
What cancer has CA-19?
What cancer has S-100?
Melanoma (if you would use Sunblock 100, it wouldn't happen)
What cancer has BRCA?
What cancer has PSA?
What cancer has CEA?
What cancer has AFP?
Liver, Yolk sac
What cancer has Rb?
Ewing sarcoma, Retinoblastoma
What cancer has Ret?
Medullary thyroid cancer
What cancer has Ras?
What cancer has bcl-2?
What cancer has c-myc?
What cancer has L-myc?
small cell lung carcinoma
What cancer has N-myc?
Neuroblastoma => pseudorosettes
What cancer has Bombesin?
What cancer has B-HCG?
What cancer has 5-HT?
What has t (9,22)?
CML (bcr-abl gene)
What has t(14,18)?
Follicular lymphoma (bcl-2 gene)
What has t(8,14)?
Burkitt's lymphoma (c-myc gene)
What has t(15,17)?
What has HLA A3, A6?
What has HLA B5?
What has HLA B13?
Psoriasis without arthritis
What has HLAB27?
What has HLA DR2?
What has HLA DR3?
What has HLA DR4?