Genetics: Marfan, CF, AD

Helpfulness: 0
Set Details Share
created 6 years ago by jgaversa5
40 views
show moreless
Page to share:
Embed this setcancel
COPY
code changes based on your size selection
Size:
X
Show:
1

what are the skeletal features of Marfan

long and thin, scoliosis, deep set eyes

2

what are the ocular features of marfan

ectopia lentis and myopia

3

what is ectopia lentis

ocular displacement

4

where is marfan ocular displacement often

up and in

5

what are the dural features of marfan

dural ectasia

6

what is dural ectasia

lumbosacral stretching of dural sac

7

what are the CV features of marfan

dilation of aorta nad MVP

8

what is the mutated gene in marfan

FBN1 gene

9

what type of genetic featuers does marfan show

allelic heterogeneity
variable expressivity but full penetrance
pleiotropic

10

what does FBN1 usually encode

fibrillin

11

what does fibrillin usually do

ECM protein that contributes to microfibril formation

12

how does fibrillin contribute to microfibril formation

negatively regulates TGFbeta

13

what is the variable expressivity seen in marfans

milder cases have null mutation, where as severe cases show dominant negative mutations

14

what type of inhibition does the null mutation of marfan show

just less TGFbeta inhibtion

15

what type of inhibition does the missense meutation of marfan show

no TGFbeta inhibtion

16

what are the treatments of marfan directeed at

aortic rupture

17

what are the mutations other than FBN1 that show similar symptoms to marfan

homocysteinuria

Loeys Dietz syndrome

18

what does homocysteinuria do functionally

interferes with collagen cross linking

19

what is similar to marfan's in homocysteinirua

long thin bones and lens displacement

20

what is not similar in homocysteinuria to marfans

emboli, mental retardation, AR inheritance

21

what are the mutations in Loeys Dietz syndrome

TGFbetaR1 or R2

22

how do Loeys Dietz really differ from marfan

aortic aneurysms at small diameters

23

what do FBN1 mutations also lead to

MASS
MVP syndrome
familial ectopia lenstis

24

what is MASS

MVP, aortic enlargment, skin and skeletal disorer

25

how is MASS inherited

AD

26

what is included in MVP syndrome

MVP and snd subtle skeletal sx

27

how is MVP syn inhertied

AD

28

what is familial ectopia lentis sx

ectopia lentis and subtle skeletal

29

how is familial ectopia lentis inherted

AD

30

what is the main CF treatment

oral panc enzymes and fat soluble vitamins

oral abx vs. hib and staph

31

what is chance of being a carrier for CF if you are white

1/25

32

how many of the CF alleles are in heterozygotes

98%

33

what are the CF lung sx

infections, obstructive disease

34

what are the chief determinant of CF morbicity and mortality

recurrent lung infections

35

why do CF kids have poor growth

panc insuff and GI absorption defects

36

what type of GI sx do kids show in CF

meconium ileus and FTT

37

what type of GU sx do CF kids show

CBAVD males

reduced fertility for females

38

what will sweat be like for CF

elevated salt

39

how do you diagnose CF

ONE OF:
typical pulmonary/GI manifestation
salt loss syndrome
obstructive azospermia
positive familiy history/new born screen

AND EVIDENCE OF CFTR DYSFUNCTION
sweat Cl>60 mEq/L
mutations in both CFTRs
abnormal ion transport across nasal epit

40

what does CFTR encode for

ABC: ATP binding cassette traponsrter protein

41

what type of protein is the ABC that CFTR encodes

large integral membrane protine

42

what is the CF ABC like

ATP regulated Cl channel that regulates other ion channels

43

what does CF's ABC do

maintains hydration of secretions with Na, Cl, and H2O

44

what happens in the lungs when CFTR is gone

viscous secreetions lead to infection and inflammatory response

45

what happens in pancreas when CFTR is gone

retention of exocrine enzymes which damages pancreas

46

what happens in sweat when CFTR is gone

salty

47

does CFTR show allelic heterogeneity

yes

48

what is the most common CFTR deletion and what happens

del F508 with 3 bp deletion t

49

what does del 508 do in genetic detail

impaires protein exit from ER due to changes in number of T's in intron 8: less efficient splicing produces protein lacking exon 9