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Shelf Review T1 > Genetics Diseases > Flashcards

Genetics Diseases Flashcards

1
Q

achondroplasia

A

FGF receptor

AD

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2
Q

marfan syndrome

A

fibrillin

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3
Q

tuberous sclerosis

A

TSC1 or TSC2

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4
Q

neurofibromatosis type 1 (NF-1)

A

NF1 = GTPase activating protein

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5
Q

cystic fibrosis

A

CFTR active

AR

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6
Q

PKU

A

phenyalanine hydroxylase

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7
Q

sickle cell

A

AA change in beta-globin chain

AR

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8
Q

hemophilia A

A

factor VIII gene

X-linked

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9
Q

duchenne muscular dystrophy

A

deletions in DMD

X-linked

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10
Q

alport syndrome

A

collagen gene

X-linked

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11
Q

ornithine transcarbamoylase deficiency

A

error in urea cycle

x-linked

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12
Q

MELAS

Mitochondrial encephalomyopathy, lactic acidosis, and stroke-like episodes

A

mutation in mito tRNA gene

mitochondiral disorder

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13
Q

kearn-sayre disease

A

deletion of part of mito genome

muscle weakness
cerebellar damage
HF

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14
Q

MERRF

MERRF syndrome (or myoclonic epilepsy with ragged red fibers)

A

mutation in mito tRNA gene

ragged fibers

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15
Q

patau

A

trisomy 13

cleft lip and palate

severe nervouse

polydactyly 1/10,000

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16
Q

edward syndrome

A

trisomy 18

CNS

heart defects

1/6,000

17
Q

down syndome

A

trisomy 21

hypotonia

developmental delay

mental retard

heart

1/800

18
Q

turner syndome

A

45, X

short

amenorrhea

lack of secondary sex

1/5,000

19
Q

klinefelter syndrome

A

47, XXY

small testes
infertile
tall
learning issues
1/1,000
20
Q

triple X

A

47, XXX

learning issues
no major physical shit
1/1,000

21
Q

XYY

A

paternal nondisjunction

learning and behavioral issues
more aggressive
1/1,000

22
Q

prader willi

A

15q11 paternal deletion

hypotonia
eating disorder
obesity
mental retard

example of paternal imprinting
- dad’s copt is missing or there are 2 of mom’s copies

23
Q

angelmann

A

15q11 maternal deletion

hypotonia
seizures
inappropriate laughter
no coordinated

mom’s copy is missing or there are 2 of dad’s

24
Q

DiGeorge

A

22q11 deletion

congenital heart defect

hypoplasia of parathyroid and thyroid

facial abnormalities

Shelf Review T1 (6 decks)

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