Brainscape's Knowledge GenomeTM

Browse over 1 million classes created by top students, professors, publishers, and experts.


See full index

Genetics > Genes > Flashcards

Genes Flashcards

You may prefer our related Brainscape-certified flashcards:
Biology 101 flashcards
1
Q

DMPK

A

myotonic dystrophy
type 1 - CTG trinucleotide repeat
Type 2 CCTG tetranucleotide repeat

How well did you know this?
1
Not at all
2
3
4
5
Perfectly
2
Q

MECP2

A

Rett

How well did you know this?
1
Not at all
2
3
4
5
Perfectly
3
Q

FMR1

A

Fragile X

How well did you know this?
1
Not at all
2
3
4
5
Perfectly
4
Q

FMX

A

friedrich ataxia

How well did you know this?
1
Not at all
2
3
4
5
Perfectly
5
Q

HFE

A

hemochromatosis

How well did you know this?
1
Not at all
2
3
4
5
Perfectly
6
Q

C-KIT

A

gastrointestinal stromal tumors

How well did you know this?
1
Not at all
2
3
4
5
Perfectly
7
Q

WT-1

A

wilms tumor

How well did you know this?
1
Not at all
2
3
4
5
Perfectly
8
Q

n-myc

A

oncogene

  • can lead to neuroblastoma with the most common site at adrenal glands
  • but it can arise anywhere along the sympathetic chain
How well did you know this?
1
Not at all
2
3
4
5
Perfectly
9
Q

c-myc

A

burkitt lymphoma

How well did you know this?
1
Not at all
2
3
4
5
Perfectly
10
Q

FGFR3

A

achondroplasia

How well did you know this?
1
Not at all
2
3
4
5
Perfectly
11
Q

PEX

A

zellweger syndrome - proxisome dysfunction

How well did you know this?
1
Not at all
2
3
4
5
Perfectly
12
Q

ATP7a

A

menkes disease -x linked - copper dysfunction

How well did you know this?
1
Not at all
2
3
4
5
Perfectly
13
Q

PMP22

A

gene duplication of PMP22 causes charcot marie tooth disease (CMT1A)

How well did you know this?
1
Not at all
2
3
4
5
Perfectly
14
Q

GNAQ

A

shurg weber syndrome (V1/V2 port wine stain, retardation, epilepsy, tram track calcification)

How well did you know this?
1
Not at all
2
3
4
5
Perfectly
15
Q

TSC1 or TSC2

A 
tuberous sclerosis (chr 9 and 16, respectively )
HAMARTOMAS (hamartomas , mental retardation, ash leaf pigmentations, seizures blah blah )
How well did you know this?
1
Not at all
2
3
4
5
Perfectly
16
Q

NF1

A

neurofibromatosis 1
regulates RAS (negatively)
- cefe spots, lisch nodules, fibromas that are cutaneous, , pheochrmomocytomas and optic gliomas

17
Q

NF2

A

2eyes 2 ears 2 parts of brain
Neurofibromatosis 2
bilateral schwannoma, meningioma and ependymoma, juvenile catarcts

18
Q

VHL

A 
von hippel lindau (regulates hypoxic inducible factor 1a)
angiomas
hemangiomas
bilateral renal carcinoma 
pheochromocytoma
19
Q

SMN1

A

spinal muscuular neurodegenration

floppy babby with fasciculations - anterior hornn dead

20
Q

P63 mutation

A

Pagets disease

Genetics (20 decks)

Brainscape helps you reach your goals faster, through stronger study habits.
© 2024 Bold Learning Solutions. Terms and Conditions