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Genetics
PASS program drill notes
| Question | Answer |
|---|---|
| What is the typical incidence of rare things? | 1-3% |
| What is the typical incidence with 1 risk factor? | 10% |
| What is the typical incidence with 2 risk factors? | 50% |
| What is the typical incidence with 3 risk factors? | 90% |
| What does Autosomal Dominant usually indicate? | Structural protein, 50% chance of passing it on |
| What does Autosomal Recessive usually indicate? | Enzyme deficiency, 25% get it, 2/3 (67%) carry it |
| What are the X-linked Recessive deficiencies? | Lesch Nyhan (HGPRT def.); self-mutilation, gout, neuropathy Hunter's (iduronidase def) Fabry's (α-galactosidase deficiency): corneal clouding, attacks baby's kidneys CAT-1 deficiency G-6PD deficiency: infections, hemolytic anemia Chronic Granulomatous Disease: NADPH oxidase deficiency |
| Where did X-linked Recessive diseases come from? | From maternal uncle or granfather |
| What are the X-linked Dominant diseases? | 1. Vitamin D --> resistant rickets (kidney leaks phosphorus): wadding gait 2. Pseudohypoparathyroidism: sausage digits, osteodystrophy |
| Where did X-linked Dominant diseases come from? | Dad ----> Daughter |
| What are the Mitochondrial diseases? | 1. Leber's --> atrophy of optic nerve 2. Leigh's ---> subacute necrotizing encephalomyelopathy |
| Where did Mitochondiral diseases come from? | Mom ---> all offspring |
| Why do we stop CPR after 20-30 minutes? | The brain has irreversible cell injury |
| Why do we only have 6 hours to use t-PA? | The body has irreversible cell injury |
| What is Turner's? | (X, O): web neck, cystic hygroma, shield chest, coartation of aorta, rib notching, bicuspid aortic valve |
| What is Klinefelter's? | (47, XXY): tall, gynecomastia, infertility, testosterone |
| What is XXX syndrome? | (47, XXX): normal female with two (2) Barr bodies |
| What is XYY syndrome? | (47, XYY): tall aggressive male |
| What is Trisomy 13? | Patau's, Polydactyly, high arch Palate, Pee problem, holoprosencephaly |
| What is Trisomy 18? | Edward's, rocket 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 |
| What disease have Trinucleotide repeats? | Huntington's, Fragile X syndrome, Myotonic dystrophy, Friedreich's Ataxia |
| What is Angelman'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 with dense fibrous tissue |
| What is Dysplasia "carcinoma in situ"? | Lose contact inhibition (cells craw 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? | New growth |
| 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 (outgrown blood supply --> hunts for blood --> secretes angiogenin and endostatin to inhibit blood supply |
| What are the fastest killing cancers? | Pancreatic cancer, Esophageal cancer |
| What does Adeno- tell you? | Glandular |
| What does Leiomyo- tell you? | Smooth muscle |
| What does Rhabdomyo- tell you? | Skeletal muscle |
| What does Hemangio- tell you? | Blood vessel |
| What does Lipo- tell you? | Fat |
| What does Osteo- tell you? | Bone |
| What does Fibro- tell you? | Fibrous tissue |
| What does -oma tell you? | Tumor |
| What does -carcinoma tell you? | Cancer |
| What does -sarcoma tell you? | Connetive tissue cancer |
| What is a Hamartoma? | Abnormal growth of normal tissue |
| What is Choristoma? | Normal tissue in the wrong place |
| What is the most common anterior mediastinum tumor? | Thymoma |
| What is the most common middle mediastinum tumor? | Pericardial |
| What is the most common posterior mediastinum tumor? | Neuro tumors |
| What organs have the most common occurrence of metastasis? | "BBLLAP" Brain (grey-white junction) Bone (bone marrow) Lung Liver (portal vein, hepatic artery) Adrenal gland (renal arteries) Pericardium (coronary arteries) |
| What cancers have Psammoma bodies? | Papillary (thyroid) Serous (ovary) Adenocarcinoma (Ovary) Meningioma Mesothelioma |
| What cancer has CA-125? | Ovarian |
| What cancer has CA-19? | Pancreatic |
| What cancer has S-100? | Melanoma |
| What cancer has BRCA? | Breast |
| What cancer has PSA? | Prostate |
| What cancer has CEA? | Colon, Pancreatic |
| What cancer has AFP? | Liver, Yolk sac |
| What cancer has Rb? | Ewing's sarcoma, Retinoblastoma |
| What cancer has Ret? | Medullary Thyroid cancer |
| What cancer has Ras? | Colon |
| What cancer has bcl-2? | Follicular lymphoma |
| What cancer has c-myc? | Burkitt's lymphoma |
| What cancer has L-myc? | Small cell lung carcinoma |
| What cancer has N-myc? | Neuroblastoma ==> pseudorosettes |
| What cancer has Bombesin? | Neuroblastoma |
| What cancer has ß-hCG? | Choriocarcinoma |
| What cancer has 5-HT? | Carcinoid syndrome |
| What cancer has t (9,22)? | CML |
| Which cancer has brc-abl gene? | CML |
| What cancer has t (14,18) | Follicular lymphoma |
| Which cancer has bcl-2 gene? | Follicular lymphoma |
| What cancer has t (8,14)? | Burkitt's lymphoma |
| Which cancer has c-myc gene? | Burkitt's lymphoma |
| What cancer has t (15,17)? | AML M3 |
| Which cancer has t (11, 22)? | Ewing's sarcoma |
Created by:
rakomi
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