Lectures 7+8

Question 0

What are the 3 purposes of genetic tests?

Answer 0

• Medical testing, analysis of functional sections of the genome in relation to medical disorders.
• Identification testing, forensic.
• Kinship testing, genetic relationship testing.

Question 1

What is genetic testing?

Answer 1

Direct analysis of DNA, RNA, genes or chromosomes for the purpose of determining inherited diseases or predisposition to particular diseases.

Question 2

What are the 3 types of medical genetic testing methods?

Answer 2

1. Cytogenetic tests - identifies abnormal karotypes.
2. Biochemical tests - conducted on body fluids for activity of proteins.
3. Molecular tests on DNA - From cells of adult or foetal region, where the condition is caused by minor variation in DNA that can’t be detected at chromosome level.

Question 3

What is PCR?

Answer 3

Polymerase chain reaction

• Used to amplify genetic material.
• PCR uses primers, small lengths of DNA complementary to a region on the sample DNA. 1 primer to 5. 2nd primer to 3.

Question 4

What are 3 ways to screen for muscle dystrophy?

Answer 4

1. Creating phospokinase testing.
2. Genetic testing.
3. Muscle biopsy.

Question 5

Who are pre-implantation genetic diagnosis offered to, and what is the success rate?

Answer 5

• Patients with a family history of a genetic disorder.
• Patients with repeated miscarriages or multiple IVF failures.
• Detects 80-90% of major chromosomal abnormalities.