You are conducting a study to quantify copy number variations (CNVs) in the geno

Question

You are conducting a study to quantify copy number variations (CNVs) in the genomes of cancer patients. You use CGH to obtain hybridization signals for each sample. In one sample you see no signal at one particular location, but all other locations show a 1x signal. What does this imply about that location of the genome and the copy number at that location?

A. There was no copy number alteration at that location, but transcription is suppressed.

B. The probe you used failed in this experiment.

C. There was a duplication at that genomic location.

D. There was a deletion at that genomic location.

E. There was no copy number alteration at that location, but the gene there does not produce a protein.

Explanation / Answer

Answer:

In one sample you see no signal at one particular location, but all other locations show a 1x signal. What does this imply about that location of the genome and the copy number at that location?

A. There was no copy number alteration at that location, but transcription is suppressed.

B. The probe you used failed in this experiment.

C. There was a duplication at that genomic location.

D. There was a deletion at that genomic location - Correct Option

E. There was no copy number alteration at that location, but the gene there does not produce a protein.

Explanation: Copy number variations are usually duplication or deletion events. . Deletions and duplications of greater than 1,000 nucleotides are called copy number variant. The gene's activity level is altered due to copy number variations. Copy number variants are categoried as short and long repeats. Comparitive genomic hybridization (CHG) is a cytogenetic technique to study copy number variation. ArrayCHG is a high throughput adapatation of the CHG technique in which signal intensities (DNA dyes) are compared between test and reference genome DNA upon hybridization. Due to deletion at that specific location, hybridization is prevented and there is no signal.

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