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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 problem
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”

Lesch-Nyhan (HGPRT deficiency)
- self-mutilation
- gout
- neuropathy

Hunter’s (iduronidase deficiency)

Fabry’s (alpha-galactosidase deficiency)
- corneal clouding
- attacks baby’s kidneys

CAT-1 deficiency

G6PD deficiency
- infections
- hemolytic anemia

Chronic Granulomatous Disease (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

Vit D 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
- blindness

Leigh’s
- subacute necrotizing encephalomyelopathy
- fatigue

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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 min?

A

The brain has irreversible cell injury

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14
Q

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

A

The body has irreversible cell injury

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15
Q

What is Turner’s?

A

(45, XO)
- 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
- decr testosterone

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17
Q

What is XXX syndrome?

A

(47, XXX)
- normal female w/ 2 Barr bodies

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18
Q

What is XYY syndrome?

A

(47, XYY)
- tall
- aggressive 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
(Lynch syndrome)

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23
Q

What diseases have Trinucleotide repeats?

A

Huntington’s
Fragile X
Myotonic dystrophy
Friedrich’s ataxia

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24
Q

What is Angelman’s?

A

“Happy puppet syndrome”
Ataxia

Genomic imprinting - paternal methylation
Microdeletion on chr 15 - maternal deletion

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25
Q

What is Prader-Willi?

A

Hyperphagia
Hypogonadism
Almond-shaped eyes

Genomic imprinting - maternal methylation
Microdeletion on chr 15 - paternal deletion

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26
Q

What is Kallman’s?

A

Anosmia
Small testes = decr production of GnRH

Defective migration of GnRH-releasing neurons from the olfactory bulbs to the hypothalamic preoptic nuclei

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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

32
Q

What is hypertrophy?

A

Increased cell size

33
Q

What is metaplasia?

A

Change from one adult cell type to another

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 & endostatin to inhibit blood supply of other tumors)

37
Q

What are the fastest 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 a hamartoma?

A

Abnormal growth of normal tissue

49
Q

What is a 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 junction)
- Bone (bone marrow)
- Lung
- Liver (portal vein, hepatic artery)
- Adrenal gland (renal arteries)
- Pericardium (coronary arteries)

54
Q

What cancers have psammoma bodies?

A

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

55
Q

Cancer w/ CA-125

56
Q

Cancer w/ CA-19

A

Pancreatic

57
Q

Cancer w/ S-100

58
Q

Cancer w/ BRCA

59
Q

Cancer w/ PSA

60
Q

Cancer w/ CEA

A

Colon
Pancreatic

61
Q

Cancer w/ AFP

A

Liver
Yolk sac

62
Q

Cancer w/ Rb

A

Ewing’s sarcoma
Retinoblastoma

63
Q

Cancer w/ Ret

A

Medullary thyroid cancer

64
Q

Cancer w/ Ras

65
Q

Cancer w/ bcl-2

A

Follicular lymphoma

66
Q

Cancer w/ c-myc

A

Burkitt’s lymphoma

67
Q

Cancer w/ L-myc

A

Small cell lung carcinoma

68
Q

Cancer w/ N-myc

A

Neuroblastoma => pseudorosettes

69
Q

Cancer w/ Bombesin

A

Neuroblastoma

70
Q

Cancer w/ ß-hCG

A

Choriocarcinoma

71
Q

Cancer w/ 5-HT

A

Carcinoid syndrome

72
Q

t(9;22) cancer

A

CML
(bcr-abl gene)

73
Q

t(14;18) cancer

A

Follicular lymphoma
(bcl-2 gene)

74
Q

t(8;14) cancer

A

Burkitt’s lymphoma
(c-myc gene)

75
Q

t(15;17) cancer

76
Q

t(11;22) cancer

A

Ewing’s sarcoma

PP Clues (27 decks)

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