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Genetics Flashcards

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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
What is Prader-Willi?
Hyperphagia Hypogonadism Almond-shaped eyes Genomic imprinting - maternal methylation Microdeletion on chr 15 - paternal deletion
26
What is Kallman’s?
Anosmia Small testes = decr production of GnRH Defective migration of GnRH-releasing neurons from the olfactory bulbs to the hypothalamic preoptic nuclei
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 & endostatin to inhibit blood supply of other tumors)
37
What are the fastest 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 a hamartoma?
Abnormal growth of normal tissue
49
What is a 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 junction) - Bone (bone marrow) - Lung - Liver (portal vein, hepatic artery) - Adrenal gland (renal arteries) - Pericardium (coronary arteries)
54
What cancers have psammoma bodies?
Papillary (thyroid) Serous (ovary) Adenocarcinoma (ovary) Meningioma Mesothelioma
55
Cancer w/ CA-125
Ovarian
56
Cancer w/ CA-19
Pancreatic
57
Cancer w/ S-100
Melanoma
58
Cancer w/ BRCA
Breast
59
Cancer w/ PSA
Prostate
60
Cancer w/ CEA
Colon Pancreatic
61
Cancer w/ AFP
Liver Yolk sac
62
Cancer w/ Rb
Ewing’s sarcoma Retinoblastoma
63
Cancer w/ Ret
Medullary thyroid cancer
64
Cancer w/ Ras
Colon
65
Cancer w/ bcl-2
Follicular lymphoma
66
Cancer w/ c-myc
Burkitt’s lymphoma
67
Cancer w/ L-myc
Small cell lung carcinoma
68
Cancer w/ N-myc
Neuroblastoma => pseudorosettes
69
Cancer w/ Bombesin
Neuroblastoma
70
Cancer w/ ß-hCG
Choriocarcinoma
71
Cancer w/ 5-HT
Carcinoid syndrome
72
t(9;22) cancer
CML (bcr-abl gene)
73
t(14;18) cancer
Follicular lymphoma (bcl-2 gene)
74
t(8;14) cancer
Burkitt’s lymphoma (c-myc gene)
75
t(15;17) cancer
AML M3
76
t(11;22) cancer
Ewing’s sarcoma

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