Molecular Flashcards
What is the preferred sample type for DNA or RNA extraction?
EDTA whole blood
What are the key steps in PCR and the temperatures at which they take place?
- Denaturation (DNA separated into 2 strands) - 95C
- Annealing of primers (68C)
- Elongation (72C)
What is used in Sanger sequencing to prematurely terminate DNA sequence?
Di-deoxynucleotides
What level of DNA testing are HFE and TPMT?
Level 1 DNA test (standard)
Consent is implied by request testing
What level of DNA testing is BRCA1 and HD?
Level 2 DNA test (i.e. the test has the potential to lead to complex clinical issues.)
Must obtain written informed patient consent.
Most common mutations associated with Type 1 hereditary haemochromatosis (HFE gene)?
- C282Y – the amino acid tyrosine issubstituted
for a cysteine at position 282, and - H63D – the amino acid aspartate is substituted
for a histidine at position 63.
Mutations of HFE gene associated with milder phenotype of haemochromatosis (type1)?
H63D
S65C
Inheritance pattern of Hereditary Haemochromatosis (type 1)
Autosomal recessive.
Conditions that are included in Medicare rebatable Reproductive Carrier Screen
Cystic Fibrosis
Spinal Muscular Atrophy
Fragile X syndrome
Butyrylcholinesterase deficiency affects metabolism/recovery from..
Succinylcholine
Prolonged paralysis can occur from reduced metabolism
Testing for suspected Butrylcholinesterase deficiency
- Enzyme level
- Dibucaine inhibition (Phenotype)
- BCHE gene (AR inheritance - Heteroygous or homozygous)
Normal enzyme - will be largely inhibited by dibucaine
What does CGH stand for?
Comparative genomic hybridisation
What does ARMS stand for?
Amplification-refractory mutation system
What does MHTFR stand for?
Methylenetetrahydrofolate reductase
What does MLPA stand for?
Multiplex ligation-dependent probe amplification
