1-36 FISH, Microarrays and Next Generation Sequencing (NGS)

Question 1

explain the technique of FISH

Answer 1

flourecence in situ hybridization

DNA probes are labeled wtih flourescent dyes and hybridized to chomrosomes.
-probes made for particular DNA sequences are specific to those sequences and cannot be used for other loci.

the results are observed with flourescent microscope

Question 2

Fish in clinical setting

Answer 2

used to assay for the presence or absence of a gene of interest whose sequence is known

Question 3

FISH when testing for a deletion

Answer 3

two different color probes will be used - one for control, and one for gene of interest

someone with no deletion should show four signals

someone with a deletion at the locus of interest should only produce 3

• two control signals
• one signal from chromsome without the deletion

Question 4

contiguous gene syndromes

Answer 4

Contiguous gene syndromes are diseases that arise from deletions or duplications of regions of DNA that contain genes with generally unrelated functions.

Question 5

describe microarray analysis

Answer 5

comparison of the quantity of nucleic acid sequence of interest to the quantity of a reference nucleic acid sequence of a known genetic complement

Question 6

applications of microarray analysis

Answer 6

dna arrays - targets a specific gene of interest in order to genotype a patient

expression (RNA) arrays - targets mRNA sequences to determine which genes are being expressed in a cell

chromosome arrays - assay for chromosome abnormailities

Question 7

microarrays are not effective in detecting

Answer 7

balances rearrangment, as the amount of DNA between the test and refernce will be the same

Question 8

genome sequencing determines the

Answer 8

base-pair sequence of the genome.