ASCP Molecular Diagnostics 1

Question 1

In real-time PCR (qPCR), what does the Ct (cycle threshold) value represent?

Accepted Answer

The cycle at which fluorescence crosses a threshold above background

Answer

The total number of PCR cycles run

Answer

The melting temperature of the amplicon

Answer

The concentration of primers used

Question 2

Which molecular technique is used to detect chromosomal translocations such as t(9;22) (BCR-ABL) in CML?

Accepted Answer

FISH and RT-PCR

Answer

Southern blotting

Answer

Western blotting

Answer

DNA microarray only

Question 3

BRCA1 and BRCA2 are tumor suppressor genes involved in DNA repair. Mutations in these genes primarily increase the risk of:

Accepted Answer

Breast and ovarian cancer

Answer

Colorectal cancer only

Answer

Leukemia

Answer

Thyroid cancer only

Question 4

Which of the following best describes next-generation sequencing (NGS)?

Accepted Answer

Massively parallel sequencing of millions of DNA fragments simultaneously

Answer

Sequencing one DNA fragment at a time using chain termination

Answer

DNA hybridization to a microarray

Answer

PCR amplification without sequencing

Question 5

Methylation-specific PCR (MSP) is used to detect which epigenetic modification?

Accepted Answer

DNA cytosine methylation at CpG sites

Answer

Histone acetylation

Answer

RNA splicing variants

Answer

Protein phosphorylation

Question 6

Fragile X syndrome is caused by expansion of which mutation in the FMR1 gene?

Accepted Answer

CGG trinucleotide repeat expansion in the 5' UTR

Answer

Point mutation (missense)

Answer

Gene deletion of entire FMR1

Answer

Translocation involving chromosome X