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Molecular Diagnostics QuestionsMDX 2_1.jpg

src="/qa/attachment/10754922/" alt="MDX 2_2.jpg" />MDX 2_3.jpgMDX 2_4.jpgMDX 2_5.jpg

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._-_4 A Exercise 5 1. Compare DNA sequences gels and describe the mutation as point
mutation or frameshift mutation. If initiation codon starts at the bottom of the gel, will the resulting protein be affected by this
mutation? Normal 2. If N is a probe for normal allele, and X is the probe for the mutant allele, the person presented by the number I” in this ASO test would best be
described as what?

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“‘ 3". :I. .. I
~nanon
$30300
I II III IV +' 3. Given the following, identify the unknown sequence of DNA. 4. Name the following structures. Point out which one is used in DNA
sequencing.

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5'
HO
HO
HOCH2
-O
OH
OH
OH
O
U
H
H
H
H
H
H
H
H
OH
OH
OH-
Exercise 6
1. Match
A. Burkitis Lymphoma
B. CML
C. Sickle Cell disease
D. Xeroderma Pigmentosum
E. Cystic Fibrosis
a. Point mutation results dysfunctional protein
b. Deletion results dysfunctional protein
c. Disease results from failed repair mechanism
d. Chromosomal Tranlocation activates a protooncogene
e. Chromosomal Tranlocation results a fusion protein
2. List three possible genetic mutagenic events that can results the
thalassemia

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3. Match
A. NER
a. Repair replication errors
B. BER
b. Repair abnormal bases
C. MMR
c. Repair bulky lesions like thymine dimer
Exercise 7
1. Define
Stringency
FISH
ISH
IHC
ASO
RT-PCR
ELISA
2. List four methods used to detect Her 2/Neu overexpression
3. List six classes of viruses and their nuclear materials. Prepare common
examples of each classes

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4. For HIV describe attachment, entry, replication and release patterns.
Exercise 8
1. List the chromosomal and/or DNA abnormalities of following tumors
A. Follicle center lymphoma
B. Montle cell lymphoma
C. Philandolphia chromosome
D. Burkitis Lymphoma
2. Explain two most important tests used nowadays to detect treatment
effectiveness/predict prognosis for HIV infection
3. What is MHC (HLA)
A. Where is HLA located
B. Three classes of HLA and expression location (type of cells)
C. Importance to have HLA gene classes in human

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