Laboratory Techniques

Question 1

Mutation in Type V collagen

Answer 1

Classical type (joint and skin symptoms) Ehlers Danlos

Question 2

Complications of Ehlers Danlos

Answer 2

joint dislocations, berry and aortic aneurysms, organ rupture

Question 3

Menkes Disease

Answer 3

Impaired copper absorption and transport.
Decreased activity of lysyl ocidase.
CT disease, results of brittle, “kinky” hair, hypotonia, retarded

Question 4

Marfan Syndrome

Answer 4

caused by a defect in fibrillin, a glycoprotein that forms a sheath around elastin

Question 5

Emphysema

Answer 5

caused by alpha1-antitrypsin deficiency, excess elastase activity

Question 6

Amplify a desired fragment of DNA

Answer 6

Polymerase Chain Reaction

Question 7

Steps of PCR

Answer 7

denaturation, annealing, elongation

Question 8

Southern Blot

Answer 8

DNA

Question 9

Northern Blot

Answer 9

RNA

Question 10

Western Blot

Answer 10

Protein, confirmatory test for HIV after ELISA

Question 11

Southwestern Blot

Answer 11

Identifies DNA-binding proteins using labeled oligonucleotide probes

Question 12

Used to profile gene expression levels of thousands of genes simultaneously to study certain diseases and treatments

Answer 12

Microarrays

Question 13

Able to detect single nucleotide polymorphisms SNPs and copy number cariations (CNVs)

Answer 13

Microarrays

Question 14

Uses a test antigen to see if a specific antibody is present in the patient’s blood

Answer 14

Indirect ELISA

Question 15

Uses a test antibody to see if a specifc antigen is present in the patient’s blood

Answer 15

Direct ELISA

Question 16

used to detect microdeletions

Answer 16

FISH - fluorescent DNA or RNA probe binding specific gene of interest

Question 17

Cloning method

Answer 17

isolate mRNA, expose it to RT to make cDNA, incsert cDNA fragments into bacterial plasmids, transform recombinant plasmid into bacteria, surviving bacteria on antibiotic medium produce cDNA

Question 18

Cre-lox System

Answer 18

can inducibly manipulate genes at specific developmental points
used to study a gene whose deletion causes embryonic cell death

Question 19

RNA interference

Answer 19

dsRNA is synthesized that is complementary to mRNA sequence of interest.
trasnfected into human cells, dsRNA sep and promotes degradation of target mRNA, knocking down gene expression

Question 20

Phase chromosomes are in for Karyotyping

Answer 20

Metaphase

diagnose chromosomal imbalances

Question 21

Why was 6 afraid of 7?

Answer 21

because 7, 8, 9