autosomal dominant disease things

Question 1

achondroplasia

Answer 1

FGFR3
LENGTH is most affected
full penetrance

Question 2

what csome has the mutation for APC?

Answer 2

5q

5 letters in “polyp”

Question 3

findings in Huntingtons

Answer 3

increase DA

decrease GABA, Ach

caudate atrophy

Question 4

li fraumeni gene abnormality + cancers

Answer 4

TP53

SBLA cancer syndrome (sarcoma, breast, luekemia, adrenal gland)

Question 5

NEurofibromatosis 1

Answer 5

von recklinghausen

CAFE AULAIT, optic gliomas, lisch nodules (Irish hamartomas) and the pheos

NF1 on c 17 –> codes for neurofibromin, a negative regulator of RAS

100% penetrance

Question 6

Neurofibramoatosis 2 (does it have cafe aulait?)

Answer 6

NF 2 on c22

2 is the one with BILATERAL ACOUSTIC SCHWANNOMMAS
(2 ears, two tumors, type 2)
meningiomas, ependymomas

NOOO CAFE AULAIT

Question 7

von hippel lindau

Answer 7

c3
deletion of tumor suppressor
HARP: hemangioblastomas, angiomatosis, renal cell carc (bilat), pheos

Question 8

name AD + neurocutaneous d/o

Answer 8

Sturge Weber
VHL
NF1
NF2
Tuberous slcerosis

Skin/ Variable NeuroFindings x Two

Question 9

whats the mnemoinc for X linked recessive d/o

Answer 9

Oblivious Female Will Often Give Her Boys Her xLinked Do

ornithine transcarbamylase def
fabry
waskott aldrich (WATER)
G6Pd
Hunters
Brutons
Lesch Nyan
Duchene

Question 10

triplet expansion diseases

Answer 10

Huntington= CAG
Fragile X= CGG
Friedreich ataxia= GAA
myotonic dystrophy= CTG

Question 11

disorders with pheos? most common site to see extraadrenal pheo?

Answer 11

MEN2a, 2b
NF1
VHL

BLADDER!

Question 12

tuberoslcerosis

Answer 12

c16
TSCI1/2
HAMMARTOMAS
-hammartoma skin and CNS
-ash leaf spots
-mitral regurg
-mental retardation
-rhabdomyoma

Question 13

osteogenesis imperfecta

Answer 13

COL1A1, COL1A2
type I collagen

BITE
b= bone fractures
i= eyes, blue sclera
t= teeth, discoloration
e= ears, hearing problems

**can be confused with child abuse

Question 14

effect on Km and max rate of rxn in presence of COMPETETIVE inhibitors

Answer 14

Km will increase because has to compete for site but rate will stay the same because binding can be overcome

Question 15

heart path that you see in MARFANS (3)

Answer 15

mvp
aortic dissection
aortic regurg due to dilation of aortic ring

Question 16

how can you decrease insulin INsensitivity?

Answer 16

INCREASE glut4 receptor translocation!

excersice does this
glitazones do this

Question 17

spermatic fascia

Answer 17

Internal= transversalis fascia
Cremasteric= internal oblique
External= external oblique

Question 18

what hormones share a similar alpha subunit?

Answer 18

ahCG, LH, FSH, TSH

Question 19

what triad to molar pregnancies present with

Answer 19

hyperthyroid –> high tsh
hyperemesis
vaginal bleeding

Question 20

top two causes of acute panc

Answer 20

gallstones

alcohol

Question 21

by what parameters does myelin increase conduction speed

Answer 21

INC length constant

DEC time constant