week 12 (experimental strat.)

Question 1

name: mendelian conditions (4)

Answer 1

• autosomal dom
• autosomal rec
• x linked rec
• x linked dom

Question 2

name: chromosomal conditions (3)

Answer 2

• non-disjunctions
• chromo. translocation
• chromo. inversions

Question 3

name: multifactorial conditions (2)

Answer 3

• influence of multiple genes and envrt. factors
• diabetes, heart disease, cancer

Question 4

question: OMIM?

Answer 4

• online mendelian inheritance of man
• online open source database

Question 5

name + explain: ways of newborn genetic screening (2)

Answer 5

1. heel prick
   ⤷ for blood sample
2. PKU newborn genetic test
   - PKU = autosomal rec. condition
   - absence of phenylalanine hydroxylase
   ⤷ converts phenylalanine to tyrosine
   - build up of Phe = toxic
   - treated by diet adjustments

Question 6

name + explain: ways of prenatal genetic screening (4)

Answer 6

1. chorionic villus sampling
   - invasive
   - extracting stem cells from chorion
2. amniocentesis
   - invasive
   - extract stem cells from amniotic fluid
3. ultrasound
   - non invasive
   - not really genetic test but very common
4. fetal cell sorting
   - fetal cells can enter mother’s blood in low amounts
   - isolating fetal cells from maternal blood

Question 7

explain: huntington’s disease + how to test for it

Answer 7

• genetically inherited neurodegenerative disease
• autosomal dom
• advances to dementia, depression, immobility

TESTING
- HD gene has variable number of CAG triplet repeats
- if length = more than 34 repeats -> prot. prod. functions abnormally
⤷ can result in HD
- can be diagnosed by amplifying repeat region by PCR
⤷ analyze size of DNA amplicon