Genes/Mutaions exam II

Question 1

Heterozygous LDLR mutation

Answer 1

1:500, most common inherited disorder of lipid metabolism

Question 2

TNNT2 mutation assoc with …

Answer 2

…HCM

Question 3

FBN1 gene mutation assoc. with what diagnosis

Answer 3

marfan’s syndrome

Question 4

CFTR location

Answer 4

7q31.2

Question 5

CDKN2A

Answer 5

1) 2 potential isoforms: mutations in either isoform or both can lead to melanoma susceptibility
2) can affect development melanoma
3) 2 transcripts encode: INK4A and p14ARF

Question 6

TGFBR1

Answer 6

Aortic aneurysms and dissection 1%

Question 7

HH labs

Answer 7

1) elevated transferrin
- transports iron
- delivers iron from absorption
2) elevated serum ferritin
- intracellular Fe storage
3) elevated serum liver enzymes

Question 8

Ph chromosome

Answer 8

Philadelphia chromosome

Abnormal chromosome 22q11, fusion of BCR-ABL

Disregulated Tyrosine Kinase, increased tyrosine kinase activity and increased cell proliferation

Question 10

ACTA2

Answer 10

Aortic aneurysms and dissection 10-15%

Question 11

MYHBPC3 mutation assoc with…

Answer 11

…HCM

Question 13

CFTR assoc with what disease

Answer 13

Cystic fibrosis

Question 14

HFE protein

Answer 14

Regulates amount dietary iron absorbed, mutation leads to increased iron absorption in intestines and increased iron stores in body tissues

Question 15

HCM

Answer 15

1. autosomal dominant mutation in up to 20 known genes
   - MYH7
   - TNNI3
   - TNNT2
   - MYHBPC3

Question 15

MYH7 mutation assoc with

Answer 15

HCM

Question 16

BCR gene location

Answer 16

Chromosome 22

Question 18

C282Y

Answer 18

HFE gene, Mutation causes hereditary hemochromatosis

Question 19

CDK4

Answer 19

1) gene involved In G1-S transfusion

* assoc melanoma

Question 21

LDLR

Answer 21

Gene assoc with LDL (low density lipoprotein) receptor

• encodes LDL receptor
• mutation inherited autosomal dominantly to cause

Familial hypercholesterolemia

Question 22

PDK1 mutation.

Answer 22

1) chromosome 16
2) 85% disease expression
3) more severe, earlier onset
4) autosomal recessive poly cystic kidney disease of unknown origin
5) high penetrance

Question 24

Homozygous LDLR mutation

Answer 24

Rare form causes childhood onset CV disease

Question 25

HbS

Answer 25

Point mutation on 6th amino acid on beta globulin chain replaces Guanine with Valine

Causes RBC sickling in low oxygen

DeoxyHbS > oxyHbS (more prone to sickling)
Low pH favors aggregation

Question 26

CFTR function

Answer 26

Codes for membrane protein that regulates chloride channels in epithelial cells

Question 27

Hh

Answer 27

Heterozygous, moderate disease

Less LDL receptor

Question 28

Crucial process for BRCA/ABL

Answer 28

Oligomerization; speeds up cell division, inhibits DNA repair

Question 29

hh

Answer 29

Homozygous, severe disease, I ability to make LDL receptor

Question 30

ARVD/C genetics

Answer 30

autosomal dominant
8 genes involved

rare form dx autosomal recessive in families primarily from Greece

Question 30

p14ARF

Answer 30

1) encoded by CDKN2A
2) stabilizes tumor suppressor protein p53
* assoc melanoma

Question 31

TNNI3 mutation assoc with

Answer 31

HCM

Question 32

Aortic aneurysms and dissection

Answer 32

Mutated genes inherited autosomal dominant

Question 33

location FBN1 gene

Answer 33

chromosome 15q21.1

Question 33

PCKD

Answer 33

1) autosomal dominant

2) mutation in PKD 1 & 2

Question 34

pentrance FBN1 gene mutation

Answer 34

100%

Question 34

MYH 11

Answer 34

1% aortic aneurysms and dissection

Question 37

Most common mutation cystic fibrosis

Answer 37

Delta-F508

Question 38

ABL1 location

Answer 38

Chromosome 9,
Proto-oncogene

codes for tyrosine kinase

Question 39

PKD 2

Answer 39

1) chromosome 4

2) 15 % disease expression

Question 39

INK4A

Answer 39

1) encoded by CDKN2A
2) controls progression through G1-S transition of cell cycle
* assoc melanoma

Question 39

delta-F508

Answer 39

1) loss of 3 nucleotides CTT causes final gene product to have deletion (delta) of amino acid phenylalanine (F) at position 508 on CFTR protein
2) altered CFTR protein is processed intracellularly and disintegrates in the cell’s proteasome complex
3) majority (60%) Caucasian patients with classic CF are homozygous for mutation

Question 39

Genes assoc with aortic aneurysms and dissection

Answer 39

1) MYH 11
2) TGFBR 1
3) TGFBR 2
4) ACTA2

Question 39

HH

Answer 39

Homozygous genotype, ability to make normal amount of LDL receptor

Question 40

genetics marfan’s

Answer 40

1. autosomal dominant inheritance of mutation in FBN1 gene

Question 41

TGFBR2 asscoc

Answer 41

Aortic aneurysms and dissection 2.5%

Question 43

MC1R

Answer 43

1) Melanocortin 1 receptor
2) on surface melanocytes
3) red hair and freckles assoc with certain alleles MC1R
4) phenotype with increased rx MM

Question 44

Imatinib

Answer 44

1) induced apoptosis is cells with BCR/ABL oncogene

2) tyrosine kinase inhibitor

Question 45

CML treatment

Answer 45

1) imatinib
2) allogenic bone marrow transplant
3) hydroxyurea

Question 46

F8

Answer 46

1)gene responsible for Hemophilia A

2) X chromosome q28
- gene can be deleted (5%) or inverted (50%)

Question 47

Hemophilia In women

Answer 47

Extremely rare, r/o turner’s syndrome

Could be due to Ab against F8 during pregnancy

Question 48

F9

Answer 48

1) mutation ( Christmas mutation ) in hemophilia B

2) functionally impaired factor 9 protein.

Question 49

Familial hypercholesterolemia

Answer 49

Autosomal dominant

Question 50

Familial aortic dissection and anneurysm

Answer 50

Autosomal dominant

Question 51

Dx Fh

Answer 51

1) LDL > 300 (goal is LDL < 100, suspect hh if LDL > 600)
2) elevated VLDL
3) normal triglyceride
4) low HDL