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Flashcards in Genetics In Medicine Deck (15):
1

What are the symptoms of sickle cell anaemia?

anaemia, fever, severe pain, accompanied by sudden death

2

What causes sickle cell disease?

A single nucleotide mutation of A to T in beta-globin gene from Glu to Val

3

Where is sickle cell anaemia mainly?

African populations
Heterozygous form protects against malaria

4

What is epigenetics?

Some genes are turned on and off by other proteins and these proteins made by genes are turned on and off by other proteins- complex web

5

How might SCA be fixed in the future?

Gene editing

6

What are the symptoms of Huntington disease?

seizures, abnormal gait, personality change, dementia

7

What is the mutation in huntingtons disease?

Short tandem repeat

8

When is the age of onset of huntingtons?

40-50 years old but varies

9

What occurs from generation to generation in huntingtons disease?

becomes more severe and onset is ealier- anticipation

10

What influences age of onset of Huntingtons disease?

Multifactorial

11

How might huntingtons disease be cured?

Inhibition of Kynurenine biochemical pathway rescues yeast, fruitflies and mice from huntingtons

12

What can cause developmental disorders?

environment e.g. infection or maternal alcohol
or new mutation

13

What is the exome?

sequencing exons in a genome

14

What is a novo mutation?

An alteration in a gene that is present for the first time in one family member due to a mutation

15

How many variants do healthy people have?

around 35 homozygous DNA varients