Genetic Diseases Flashcards
What is the amino acid change in sickle cell anaemia
Glutamate to valine
What mutation causes sickle cell anaemia
Point substitution
Where is sickle cell anaemia most commonly found
Africa
Carriers for sickle cell are resistant to what disease
Malaria
What inheritance pattern does sickle cell anaemia have
Autosomal recessive
What inheritance pattern does cystic fibrosis have
Autosomal recessive
What inheritance pattern does achondroplasia have
Autosomal dominant
What inheritance pattern does marfans syndrome have
Autosomal dominant
What inheritance pattern does haemophilia have
X linked recessive
What does sickle cell anaemia result in
Ischaemia
The mutation in sickle cell anaemia affects with restriction site
MstII
Does sickle cell anaemia result in more or less bands in PCR
Less
What inheritance pattern does huntingtons disease show
Autosomal dominant
What mutation does results in huntingtons disease
Expanded repeat of the CAG sequence
What influences the age of onset for huntingtons
It’s multifactorial so is affected by genes and the environment
