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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 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
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

PPClues (24 decks)

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