Flashcards in Genetic Diseases Deck (15)
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1
What is the amino acid change in sickle cell anaemia
Glutamate to valine
2
What mutation causes sickle cell anaemia
Point substitution
3
Where is sickle cell anaemia most commonly found
Africa
4
Carriers for sickle cell are resistant to what disease
Malaria
5
What inheritance pattern does sickle cell anaemia have
Autosomal recessive
6
What inheritance pattern does cystic fibrosis have
Autosomal recessive
7
What inheritance pattern does achondroplasia have
Autosomal dominant
8
What inheritance pattern does marfans syndrome have
Autosomal dominant
9
What inheritance pattern does haemophilia have
X linked recessive
10
What does sickle cell anaemia result in
Ischaemia
11
The mutation in sickle cell anaemia affects with restriction site
MstII
12
Does sickle cell anaemia result in more or less bands in PCR
Less
13
What inheritance pattern does huntingtons disease show
Autosomal dominant
14
What mutation does results in huntingtons disease
Expanded repeat of the CAG sequence
15
