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Flashcards in Genetic Diseases Deck (15)
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1
Q

What is the amino acid change in sickle cell anaemia

A

Glutamate to valine

2
Q

What mutation causes sickle cell anaemia

A

Point substitution

3
Q

Where is sickle cell anaemia most commonly found

A

Africa

4
Q

Carriers for sickle cell are resistant to what disease

A

Malaria

5
Q

What inheritance pattern does sickle cell anaemia have

A

Autosomal recessive

6
Q

What inheritance pattern does cystic fibrosis have

A

Autosomal recessive

7
Q

What inheritance pattern does achondroplasia have

A

Autosomal dominant

8
Q

What inheritance pattern does marfans syndrome have

A

Autosomal dominant

9
Q

What inheritance pattern does haemophilia have

A

X linked recessive

10
Q

What does sickle cell anaemia result in

A

Ischaemia

11
Q

The mutation in sickle cell anaemia affects with restriction site

A

MstII

12
Q

Does sickle cell anaemia result in more or less bands in PCR

A

Less

13
Q

What inheritance pattern does huntingtons disease show

A

Autosomal dominant

14
Q

What mutation does results in huntingtons disease

A

Expanded repeat of the CAG sequence

15
Q

What influences the age of onset for huntingtons

A

It’s multifactorial so is affected by genes and the environment