Human Variation In Health And Disease Flashcards
What is cytogenetics
The structure, property and behaviour of chromosomes
What are some examples of small variations in genome
Single base pair changes eg. single nt polymorphism, point mutation
Small insertions or deletions
What are some examples of large variants in genome
Deletion
Duplication
Large tandem repeat
Inversion
What are some environmental causes of genetic variation
Ionising radiation
UV
Chemicals
Retrotransposition caused genetic variation in genome. What is it
Elements that can amplify themselves t/out genome
They copy themselves into RNA nd back into DNA that integrates back into genome
What are some consequences of genetic variation
Can be no phenotypic change
Can have alternative phenotypes of no medical exposure
Individual becomes susceptible to disease
Pathogenicity increases
Give some examples of genetic, complex and environmental diseases
Genetic - DS, CF, sickle cell
Complex - diabetes 2, Alzheimer’s, cardiovascular disease, obesity
Environmental - measles, hepatitis, influenza
What is a monogenic disease
A change in one gene that causes a disease
What is a missense mutation
Alters function due to AA changing protein structure
What is a nonsense/frameshift mutation
When protein synthesis is suddenly cut off
What is a splicing mutation
The addition or removal of introns/exons
List some reasons we need molecular diagnoses
Better informed genetic counselling
Possible prognosis
Prenatal, preimplantation, presymptomatic diagnosis
