Techniques in Molecular Genetics
Chromosome Structure & Abnormalities
Inhibitors
Mutations and Disease
RBCs and Hemoglobin
100
What type of test is used to detect Duchenne/Becker Muscular Dystrophy?
Multiple Probe Ligation Amplification (MLPA)
100
A newborn presents with small facial features, but a relatively large head, ears posteriorly rotated to the back, and overlapping 2nd and 5th digits. What disorder are you likely to diagnose the patient with?
A. Duchenne’s Muscular Dystrophy
B. Spinal Muscular Atrophy
C. Trisomy 13
D. Trisomy 18
D. Trisomy 18
100
Allopurinol is a common drug used in the treatment of gout. How does allopurinol exhibit its effects?
A. Binds tightly to the enzyme xanthine oxidase to decrease conversion of xanthine to uric acid
B. Irreversibly binds to an enzyme blocking oxidation of hypoxanthine to xanthine
C. Two of the above
D. None of the above
C. Two of the above (Binds tightly to the enzyme xanthine oxidase to decrease conversion of xanthine to uric acid and Irreversibly binds to an enzyme blocking oxidation of hypoxanthine to xanthine)
100
Which one of these diseases is NOT caused by triplet repeat mutations?
A. Spinal Muscular Atrophy
B. Fragile
C. Huntington’s Disease
D. Myotonic Dystrophy
A. Spinal Muscular Atrophy
100
Which abnormal RBC morphology can be seen in patients suffering from lead poisoning, arsenic poisoning or alcoholism?
A. Spherocyte
B. Elliptocyte/ovalocyte
C. Basophillic stippling
D. Target cells
C. Basophillic stippling
200
Which one of these diseases is NOT caused by an error in protein folding?
A. Systemic Amyloidosis
B. Antitrypsin Deficiency
C. Myotonic Dystrophy
D. Alzheimers
C. Myotonic Dystrophy
200
A translocation of the 9th and 22nd chromosome leads to what disease?
Chronic Myelogenous Leukemia
200
Do not pass go, but do collect 200 points.
200
BCL2, Myc, Fos/Jun(AP-1) are examples of?
Oncogenes
200
What type of cell forms from an Iron or B12 deficiency?
Elliptocytes/Ovalocytes
300
Take 300 free points.
300
Lyonization is also known as?
X-inactivation
300
Turner syndrome is which type of aneuploidy?
Monosomy
300
Facial abnormality, mental retardation, mutation of transcription factor CREB, and combined pituitary hormone deficiency is associated with which disease?
Rubinstein-Taby syndrome
300
Hemoglobin H disease is caused by what?
3 deleted copies of the alpha hemoglobin chain (alpha-thalassemias)
John's commentary: Hemoglobin H is a form of Alpha Thalassemia, specifically when there are three of four missing or mutated alpha globin producing genes (https://kidshealth.org/en/parents/thalassemias.html )
400
Which assay can detect UPD (Uniparental Disomy)?
PCR (Polymerase Chain Reaction) or
SNP (Single Nuleotide Polymorphism) or
Array CGH (Comparative Genomic Hybridization)
John's Commentary: It was unclear to me based on the answer sent to me if "SNP array CGH" was one technique, or if these were two techniques. Some Googling suggested "CGH arrays" and "SNP arrays" were too ways to test for UPD.
400
What is the name of the condition described by the karyotype 45,X?
Turner Syndrome
400
PARP1 inhibitors are used for chemotherapy for individuals who have a mutation in what gene?
BCRA1/2 Mutations (Hereditary Breast Ovarian Cancer)
400
Name one type of exogenous source of DNA damage.
UV irradiation (T=T dimers) or
Alkyating and crosslinking agents
400
Trinulceotide repeat mutations is due to the slippage of _____________.
Microsatelliates
500
What drug is used to treat SMA, which works through exon skipping to include exon 7 in SMN2, and is the first ever FDA approved therapy for SMA?
Spinraza
500
What is the term for when an offspring receives 2 copies of a chromosome from one parent and no copies from the other parent?
Uniparental disomy
500
What type of organism is affected by erythromycin and in what stage?
Prokaryotes in the translation stage
500
What type of genetic heterogeneity refers to diseases caused by the same gene and different phenotype?
Clinical Heterogeneity
500
On what number chromosome will you find the beta hemoglobin chain?
Chromosome 11