Genetic Diseases Flashcards Preview

Medical Cell Biology And Genetics > Genetic Diseases > Flashcards

Flashcards in Genetic Diseases Deck (15)
Loading flashcards...
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

What influences the age of onset for huntingtons

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