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PPClues > Genetics > Flashcards

Genetics Flashcards

1
Q

What is the typical incidence of rare things?

A

1-3%

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2
Q

What is the typical incidence with 1 risk factor?

A

10%

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3
Q

What is the typical incidence with 2 risk factors?

A

50%

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4
Q

What is the typical incidence with 3 risk factors?

A

90%

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5
Q

What does Autosomal Dominant usually indicate?

A

Structural problems, 50% chance of passing it on

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6
Q

What does Autosomal Recessive usually indicate?

A

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

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7
Q

What are the x-linked recessive deficiencies?

A

“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

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8
Q

Where did x-linked Recessive diseases come from?

A

From maternal uncle or grandpa

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9
Q

What are the X-linked Dominant diseases?

A

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

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10
Q

Where did X-linked Dominant diseases come from?

A

Dad->daughter

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11
Q

What are the Mitochondrial diseases?

A 
Leber's = atrophy of optic nerve
Leigh's= subacute necrotizing encephalomyelopathy
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12
Q

Where did Mitochondrial diseases come from?

A

Mom-> all kids

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13
Q

Why do we stop CPR after 20-30 mins?

A

The brain has irreversible cell injury

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14
Q

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

A

The body has irreversible cell injury

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15
Q

What is Turner’s

A

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

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16
Q

What is Klinefelter’s?

A

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

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17
Q

What is XXX syndrome?

A

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

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18
Q

What is XYY syndrome?

A

(47, XYY): tall agressive male

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19
Q

What is trisomy 13?

A

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

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20
Q

What is trisomy 18?

A

Edward’s, rocker bottom feet

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21
Q

What is trisomy 21?

A

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

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22
Q

What disease has a dinucleotide repeat?

A

HNPCC (Hereditary nonpolyposis colorectal cancer)

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23
Q

What disease have Trinucleotide repeats?

A

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

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24
Q

What is Agelman’s?

A

“Happy puppet syndrome”, ataxia

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25
Q

What is Prader-Willi?

A

Hyperphagia, hypogonadism, almond shaped eyes

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26
Q

What is Kallman’s?

A

Anosmia, small testes

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27
Q

What is Anaplasia?

A

Regress to infantile state

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28
Q

What is Atrophy?

A

Decreased organ or tissue size

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29
Q

What is Desmoplasia?

A

Cell wraps itself w/dense fibrous tissue

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30
Q

What is Dysplasia “carcinoma in situ”?

A

Lose contact inhibition (cells crawl on each other)

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31
Q

What is Hyperplasia?

A

Increased cell number

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32
Q

What is Hypertrophy?

A

Increased cell size

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33
Q

What is Metaplasia?

A

Change from one adult cell type to another

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34
Q

What is Neoplasm?

A

New growth

35
Q

What is Benign?

A

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

36
Q

What is Malignant?

A

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
Q

What are the fastes killing cancers?

A

Pancreatic cancer, esophageal cancer

38
Q

What does Adeno - tell you?

39
Q

What does Leiomyo- tell you?

A

Smooth muscle

40
Q

What does Rhabdomyo - tell you?

A

Skeletal muscle

41
Q

What does Hemangio - tell you?

A

Blood vessel

42
Q

What does Lipo- tell you?

43
Q

What does Osteo - tell you?

44
Q

What does Fibro - tell you?

A

Fibrous tissue

45
Q

What does -oma tell you?

46
Q

What does -carcinoma tell you?

47
Q

What does -sarcoma tell you?

A

Connective Tissue cancer

48
Q

What is Hamartoma?

A

Abnormal growth of normal tissue

49
Q

What is Choristoma?

A

Normal tissue in the wrong place

50
Q

What is the most common anterior mediastinum tumor?

51
Q

What is the most common middle mediastinum tumor?

A

Pericardial

52
Q

What is the most common posterior mediastinum tumor?

A

Neuro tumors

53
Q

What organs have the most common occurrence of metastasis?

A 
"BBLLAP"
Brain (grey-white jxn)
Bone (bone marrow)
Lung
Liver (portal vein, hepatic artery)
Adrenal glands (renal arteries)
Pericardium (coronary arteries)
54
Q

What cancers have psammomma bodies?

A 
Papillary (thyroid)
Serous (ovary)
Adenocarcinoma (ovary)
Meningioma
Mesothelioma
55
Q

What cancer has CA-125?

56
Q

What cancer has CA-19?

A

Pancreatic

57
Q

What cancer has S-100?

A

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

58
Q

What cancer has BRCA?

59
Q

What cancer has PSA?

60
Q

What cancer has CEA?

A

Colon, pancreatic

61
Q

What cancer has AFP?

A

Liver, Yolk sac

62
Q

What cancer has Rb?

A

Ewing sarcoma, Retinoblastoma

63
Q

What cancer has Ret?

A

Medullary thyroid cancer

64
Q

What cancer has Ras?

65
Q

What cancer has bcl-2?

A

follicular lymphoma

66
Q

What cancer has c-myc?

A

Burkitt’s lymphoma

67
Q

What cancer has L-myc?

A

small cell lung carcinoma

68
Q

What cancer has N-myc?

A

Neuroblastoma => pseudorosettes

69
Q

What cancer has Bombesin?

A

Neuroblastoma

70
Q

What cancer has B-HCG?

A

Choriocarcinoma

71
Q

What cancer has 5-HT?

A

Carcinoid syndrome

72
Q

What has t (9,22)?

A

CML (bcr-abl gene)

73
Q

What has t(14,18)?

A

Follicular lymphoma (bcl-2 gene)

74
Q

What has t(8,14)?

A

Burkitt’s lymphoma (c-myc gene)

75
Q

What has t(15,17)?

76
Q

What has HLA A3, A6?

A

Hemochromatosis

77
Q

What has HLA B5?

A

Behcet’s

78
Q

What has HLA B13?

A

Psoriasis without arthritis

79
Q

What has HLAB27?

A

Psoriasis
Ankylosing spondylitis
Reiter’s

80
Q

What has HLA DR2?

A

Goodpasture’s, MS

81
Q

What has HLA DR3?

A

Celiac Sprue

82
Q

What has HLA DR4?

A

Pemphigus Vulgaris

83
Q

What has HLA DR5?

A

Pernicious anemia

PPClues (24 decks)

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