Diseases

Question 1

What is beta-thalassemia?

Answer 1

mild inherited anemia

Question 2

There is a mutation in the __________ region of the b-globin gene in beta-thalassemia

Answer 2

promoter (less promotion = less transcription)

Question 3

What is the specific mutation in beta-thalassemia?

Answer 3

mutation in TATA box (CATA to CATG)

Question 4

What is the mutation in gamma-delta-beta thalassemia?

Answer 4

deletion of locus of control region for transcription of globin genes

Question 5

What causes hemophilia B leyden?

Answer 5

problem in promoter region of protein clotting gene

Question 6

Why does hemophilia B leyden improve during puberty?

Answer 6

alternative transcriptional activators can bind overlapping sites at the promoter (i.e.: androgen receptor)

Question 7

What causes Fragile X syndrome?

Answer 7

Expansion of CCG gene upstream of FMR1 gene

Question 8

Expansion of CCG gene upstream of FMR1 gene leads to ________

Answer 8

Fragile X syndrome

Question 9

How does Fragile X syndrome lead to transcriptional silencing?

Answer 9

expansion in CCG count increases methylation; methylated DNA recruits HDACs, silences transcription

Question 10

Craniosynostosis comes from a mutation in ______

Answer 10

homeodomain protein (helix-turn-helix) MSX2 (affects transcription of genes for craniofacial development)

Question 11

What amino acid substitution occurs in craniosynostosis?

Answer 11

proline –> histidine (protein binds DNA more strongly, gives gain of function)

Question 12

Androgen insensitivity syndrome comes from a mutation in what sequence-specific DNA binding protein?

Answer 12

zinc finger

Question 13

In Waardenburg syndrome type II, microphthalmia-associated transcription factor (MITF) is non-functional. What protein is this defect associated with?

Answer 13

basic helix-loop-helix (sequence-specific DNA binding protein)

Question 14

Leukemia involves a defect in ________

Answer 14

histone acetylation

Question 15

Rubinstein-Tavbi syndrome has a mutation in a _____ that normally activates transcription for many different genes

Answer 15

histone acetyltransferase (HAT)

Question 16

Colon cancer is caused by a mutation in ______

Answer 16

APC

Question 17

Relate APC mutation, beta-catenin, and colon cancer

Answer 17

APC is mutated. Beta-catenin accumulates and moves into nucleus. This causes proliferation and cancer

Question 18

Marfan’s syndrome is a genetic disorder caused by _______ defects

Answer 18

splicing

Question 19

A mutation in exon 7 leads to __________

Answer 19

spinal muscular atrophy

Question 20

Xeroderma pigmentosum and Cockayne’s syndrome involve mutations in _________, which facilitates nucleotide excision repair, a type of __________

Answer 20

transcription factor II H (TFIIH), DNA repair mechanism

Question 21

TFIIH facilitates what kind of DNA repair

Answer 21

nucleotide excision repair

Question 22

Hereditary non-polyposis colorectal cancer (HNPCC) is caused by mutations in the machinery that perform ___________

Answer 22

mismatch repair

Question 23

Cockayne’s syndrome involves a defect in ________ nucleotide excision repair

Answer 23

transcription-coupled

Question 24

Xeroderma pigmentosum involves a defect in ________ nucleotide excision repair

Answer 24

global genome

Question 25

In Cockayne’s syndrome, stalled RNA polymerase is a signal for ________ to remove RNA polymerase and recruit help to unwind and excise damage

Answer 25

CSA and CSB

Question 26

Gout involves precipitates of ________

Answer 26

purines

Question 27

Gout involves mutations of enzymes that put _________

Answer 27

nucleotides onto phosphates (fewer nucleotides, less soluble)

Question 28

Congenital disorder of glycosylation (CDG) has a malfunction in glycosylation, which generally acts to _________

Answer 28

increase hydrophilicity (solubility)

Question 29

In prion disease, what does the protein structure go from and to?

Answer 29

from: alpha helicies
to: beta sheets
(causes aggregation and amyloid plaque)

Question 30

Alzheimer’s leads to ________ plaques

Answer 30

misfolding and aggregation into amyloid plaque; beta amyloid plaques (and tau tangles)

Question 31

In Parkinson’s, protein misfolding leads to ___________

Answer 31

Lewy bodies

Question 32

_____________ is generalized protein misfolding that leads to a variety of diseases

Answer 32

amyloidosis

Question 33

PKU

Answer 33

excess of phenylalanine

Question 34

scurvy involves reduced ________ strength

Answer 34

collagen

Question 35

Strength of collagen comes from ________, which scurvy lacks

Answer 35

addition of -OH group to proline (scurvy lacks this)

Question 36

sickle cell anemia involves amino acid chain from ___________ to ___________

Answer 36

glutamine (hydrophilic), valine (hydrophobic)

Question 37

In cystic fibrosis, the most common mutation is a ________ of F508, which causes __________

Answer 37

deletion, protein misfolding

Question 38

Creutzfeldt Jacob is caused by a genetic mutation in ________

Answer 38

prion gene

Question 39

Scrapie, kuru, and mad cow disease are all caused by ___________

Answer 39

ingestion of a denatured prion protein

Question 40

People with Downs Syndrome get __________ from an early age, which causes __________ to aggregate

Answer 40

APP deposits, beta amyloid

Question 41

Hemoglobin Wayne, Hemoglobin constant spring

Answer 41

frameshift mutation and sense mutation leading to anemia