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Flashcards in Genetics Deck (83)
1

What is the typical incidence of rare things?

1-3%

2

What is the typical incidence with 1 risk factor?

10%

3

What is the typical incidence with 2 risk factors?

50%

4

What is the typical incidence with 3 risk factors?

90%

5

What does Autosomal Dominant usually indicate?

Structural problems, 50% chance of passing it on

6

What does Autosomal Recessive usually indicate?

Enzyme deficiency, 1/4 get it, 2/3 carry it

7

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
PDH deficiency
G-6PD deficiency: infxns, hemolytic anemia
Chronic Granulomatous Dz: NADPH oxidase deficiency

8

Where did x-linked Recessive diseases come from?

From maternal uncle or grandpa

9

What are the X-linked Dominant diseases?

Na-resistant rickets (kidney leaks phosphorus): waddling gait
Pseudohypoparathyroidism: sausage digits, osteodystrophy

10

Where did X-linked Dominant diseases come from?

Dad->daughter

11

What are the Mitochondrial diseases?

Leber's = atrophy of optic nerve
Leigh's= subacute necrotizing encephalomyelopathy

12

Where did Mitochondrial diseases come from?

Mom-> all kids

13

Why do we stop CPR after 20-30 mins?

The brain has irreversible cell injury

14

Why do we only have 6 hrs to use t-PA?

The body has irreversible cell injury

15

What is Turner's

(X,O): web neck, cystic hygroma, shield chest, coarctation of aorta, rib notching

16

What is Klinefelter's?

(47,XXY): tall, gynecomastia, infertility, decrease testosterone

17

What is XXX syndrome?

(47,XXX): normal female w/two Barr bodies

18

What is XYY syndrome?

(47, XYY): tall agressive male

19

What is trisomy 13?

Patau's, polydactyly, high arch palate, pee problem, holoprosencephaly

20

What is trisomy 18?

Edward's, rocker bottom feet

21

What is trisomy 21?

Down's, simian crease, wide 1st/2nd toes, macroglossia, mongolian slant of eyes, brushfield spots, retardation

22

What disease has a dinucleotide repeat?

HNPCC (Hereditary nonpolyposis colorectal cancer)

23

What disease have Trinucleotide repeats?

Huntington's, Fragile X, Myotonic Dystrophy, Friedreichs Ataxia

24

What is Agelman's?

"Happy puppet syndrome", ataxia

25

What is Prader-Willi?

Hyperphagia, hypogonadism, almond shaped eyes

26

What is Kallman's?

Anosmia, small testes

27

What is Anaplasia?

Regress to infantile state

28

What is Atrophy?

Decreased organ or tissue size

29

What is Desmoplasia?

Cell wraps itself w/dense fibrous tissue

30

What is Dysplasia "carcinoma in situ"?

Lose contact inhibition (cells crawl on each other)

31

What is Hyperplasia?

Increased cell number

32

What is Hypertrophy?

Increased cell size

33

What is Metaplasia?

Change from one adult cell type to another

34

What is Neoplasm?

New growth

35

What is Benign?

Well circumscribed, freely movable, maintains capsule, obeys physiology, hurts by compression, slow growing

36

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.

37

What are the fastes killing cancers?

Pancreatic cancer, esophageal cancer

38

What does Adeno - tell you?

Glandular

39

What does Leiomyo- tell you?

Smooth muscle

40

What does Rhabdomyo - tell you?

Skeletal muscle

41

What does Hemangio - tell you?

Blood vessel

42

What does Lipo- tell you?

Fat

43

What does Osteo - tell you?

Bone

44

What does Fibro - tell you?

Fibrous tissue

45

What does -oma tell you?

Tumor

46

What does -carcinoma tell you?

Cancer

47

What does -sarcoma tell you?

Connective Tissue cancer

48

What is Hamartoma?

Abnormal growth of normal tissue

49

What is Choristoma?

Normal tissue in the wrong place

50

What is the most common anterior mediastinum tumor?

Thymoma

51

What is the most common middle mediastinum tumor?

Pericardial

52

What is the most common posterior mediastinum tumor?

Neuro tumors

53

What organs have the most common occurrence of metastasis?

"BBLLAP"
Brain (grey-white jxn)
Bone (bone marrow)
Lung
Liver (portal vein, hepatic artery)
Adrenal glands (renal arteries)
Pericardium (coronary arteries)

54

What cancers have psammomma bodies?

Papillary (thyroid)
Serous (ovary)
Adenocarcinoma (ovary)
Meningioma
Mesothelioma

55

What cancer has CA-125?

Ovarian

56

What cancer has CA-19?

Pancreatic

57

What cancer has S-100?

Melanoma (if you would use Sunblock 100, it wouldn't happen)

58

What cancer has BRCA?

Breast

59

What cancer has PSA?

Prostate

60

What cancer has CEA?

Colon, pancreatic

61

What cancer has AFP?

Liver, Yolk sac

62

What cancer has Rb?

Ewing sarcoma, Retinoblastoma

63

What cancer has Ret?

Medullary thyroid cancer

64

What cancer has Ras?

Colon

65

What cancer has bcl-2?

follicular lymphoma

66

What cancer has c-myc?

Burkitt's lymphoma

67

What cancer has L-myc?

small cell lung carcinoma

68

What cancer has N-myc?

Neuroblastoma => pseudorosettes

69

What cancer has Bombesin?

Neuroblastoma

70

What cancer has B-HCG?

Choriocarcinoma

71

What cancer has 5-HT?

Carcinoid syndrome

72

What has t (9,22)?

CML (bcr-abl gene)

73

What has t(14,18)?

Follicular lymphoma (bcl-2 gene)

74

What has t(8,14)?

Burkitt's lymphoma (c-myc gene)

75

What has t(15,17)?

AML M3

76

What has HLA A3, A6?

Hemochromatosis

77

What has HLA B5?

Behcet's

78

What has HLA B13?

Psoriasis without arthritis

79

What has HLAB27?

Psoriasis
Ankylosing spondylitis
Reiter's

80

What has HLA DR2?

Goodpasture's, MS

81

What has HLA DR3?

Celiac Sprue

82

What has HLA DR4?

Pemphigus Vulgaris

83

What has HLA DR5?

Pernicious anemia