Genetics In Medicine Flashcards
What are the symptoms of sickle cell anaemia?
anaemia, fever, severe pain, accompanied by sudden death
What causes sickle cell disease?
A single nucleotide mutation of A to T in beta-globin gene from Glu to Val
Where is sickle cell anaemia mainly?
African populations
Heterozygous form protects against malaria
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
How might SCA be fixed in the future?
Gene editing
What are the symptoms of Huntington disease?
seizures, abnormal gait, personality change, dementia
What is the mutation in huntingtons disease?
Short tandem repeat
When is the age of onset of huntingtons?
40-50 years old but varies
What occurs from generation to generation in huntingtons disease?
becomes more severe and onset is ealier- anticipation
What influences age of onset of Huntingtons disease?
Multifactorial
How might huntingtons disease be cured?
Inhibition of Kynurenine biochemical pathway rescues yeast, fruitflies and mice from huntingtons
What can cause developmental disorders?
environment e.g. infection or maternal alcohol
or new mutation
What is the exome?
sequencing exons in a genome
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
How many variants do healthy people have?
around 35 homozygous DNA varients
