Postnatal Screening Flashcards
1
Q
What is postnatal screening used for and what are tests
A
Detect metabolic disorders such as PKU
Heel prick tests
2
Q
What is PKU
A
Mutation In gene coding for enzyme that converts amino acid phenylalanine to tyrosine
INSTEAD
Phenylalanine concerts to phenylpyruvate which affects baby’s mental development
3
Q
Treatment of pku
A
Placed on diet that lacks phenylalanine
4
Q
Autosomal recessive disorders, male or female and generations, carriers?
A
- Cystic fibrosis
- males and females equally
- may skip generations
- carriers that don’t show
5
Q
Autosomal dominant
Conditions, gender ,carrier?
A
- Huntington’s
- male and female equally
- no carriers
6
Q
Autosomal Incomplete dominance, conditions, gender, carriers
A
- sickle cell disease
- makes and females equally
- Cartier can have it less severe
7
Q
Sex linked recessive
A
- haemophilia ,colour blind
- male inherit from mother - XX
- male can’t inherit from father -Y
- female only if father is affected and mother is carrier - XCXC
