Genetic Disorders + Diagnosis

Question 1

What is an effect of increased mucus secretion?

Answer 1

Breathlessness due to smaller airways

Question 2

Effects of increased mucus secretion for the digestive system

Answer 2

Abdominal pain

Question 3

What age does huntingtons symptoms manifest?

Answer 3

30-50 years old

Question 4

What is atrophy?

Answer 4

Mass cell death

Question 5

How is down syndrome caused?

Answer 5

If a fertilised embyro has an extra copy of chromosome due to non-disjunction

Question 6

Can fathers pass sex linked conditions to their sons?

Answer 6

No, as only a Y chromosome is inherited from the father

Question 7

Benign tumour traits:

Answer 7

Encapsulated by connective tissue, slower growing, don’t metastiasise, treatable with surgery

Question 8

Malignant tumour traits:

Answer 8

Fast growing, not capsulated by connective tissue, metastasise to produce secondary tumours

Question 9

If a pronto-oncogene has a DNA mutation is turns into a..

Answer 9

Oncogene, resulting in overstimulation of cell-division

Question 10

Tumours are formed by what?

Answer 10

DNA in a cell being damaged, which causes it to rapidly divide

Question 11

How can DNA samples be taken?

Answer 11

Cheek swab and bloos samples

Question 12

What are some genetic testing advantages?

Answer 12

It’s a treatment, gives earlier detection, helps diagnose genetic conditions, gives stress relief

Question 13

What are some genetic testing disadvantages?

Answer 13

High cost, privacy concerns, positive tests can increase stress, negative tests can mask additional causes

Question 14

How is genetic screening done?

Answer 14

DNA is taken with a swab in the mouth, then sequences in a lab and checked for known alleles

Question 15

What is amniocentesis?

Answer 15

Sample of amniotic fluid is taken between 15-20 weeks of pregnancy