Prac Classes

Question 1

What is the problem with the genome in a Chromosome Disorder?

Answer 1

Entire or large segments of chromosomes are deleted, duplicated or altered which cause effects on gene expression.

Question 2

What is an example of a Chromosome Disorder?

Answer 2

Down Syndrome

Question 3

What is the problem with the genome in a Single Gene Defect disorder?

Answer 3

There are pathogenic mutations in individual genes.

Question 4

Which chromosomes can be affected in a Single Gene Defect disorder?

Answer 4

X-chromosome or the Autosome

Question 5

What is an example of a Single Gene Defect disorder?

Answer 5

Cystic Fibrosis

Question 6

What is the problem with the genome in a Multifactorial Disease?

Answer 6

Most diseases result from a combination of gene and environmental effects. May be due to the presence of more than one gene defect.

Question 7

What is an example of a Multifactorial Disease?

Answer 7

Diabetes, Hypertension

Question 8

What is an Inflammatory Cardiomyopathy (infective myocarditis)?

Answer 8

An inflammatory induced damage of heart tissue by a virus.

Question 9

How does a virus cause Infective Myocarditis?

Answer 9

The viruses produce an antigen that mimics the host cell antigen. The patient then produces antibodies which attack own cells.

Question 10

What is molecular mimicry?

Answer 10

When a virus produces an antigen which mimics the host cell antigen (infective myocarditis).

Question 11

What are some common viruses which cause infective myocarditis?

Answer 11

Parvovirus B19, Human Herpes Virus 6, Enterovirus (Coxsackie Virus)

Question 12

What a some common diagnositic techniques used to diagnose Infective myocarditis?

Answer 12

Histology - H&E stain, Elastic Van Gieson, Periodic acid-schiff

Immunohistochemistry - CD4, CD31, CD54

Endomyocardial Biopsy - Nested PCR and qPCR, miRNA profiling

Question 13

How does Nested PCR work?

Answer 13

First, take a set of primers that will bind into the specific site where the viral DNA is present in the host human genome. Then conduct the first round of PCR. This creates the long amplicon.

Now we can perform the second round of PCR which hones in on the target allele region by using a second set of primers (consists of a series of bases that contain the viral allele of the target DNA). We now have the short amplicon.

Amplified ciral PCR products are then separated on agarose gel electrophoresis.

Question 14

Why do we need a negative control on gel electrophoresis?

Answer 14

To ensure that positive results are true results and not due to contamination of the mastermix.