Genetics Flashcards
What is precision medicine?
A branch of medicine which identifies and treats people who will benefit from specific treatment
What is the proteome?
The entire set of proteins that can be expressed by a cell’s genetic information
What is the difference between a mutation and a polymorphism?
A polymorphism affects 1% + of the population and doesn’t cause disease in its own right. Mutation casuses disease
Name the main anatomical parts of the chromosome.
Satellite, p arm, centromere, q arm
What is an unbalanced translocation?
When genes end up with too much/too little information
What is the term for a chromosome in which the short arm doesn’t really matter (i.e. Y chromosome)?
Acrocentric
Describe a Robertsonian translocation.
The short arms usually join and are lost
Name the two main trisomies.
21 - Down’s, 18 - Edward’s
Name the three main sex chromosome abnormalities.
45 X - Turner’s, 47 XXX - triple X, 47 XXY - Klinefelters
Why is X-chromosome aneuploidy better tolerated?
X inactivation
What is the difference in result between lots of unbalanced translocation vs a little?
Miscarriage vs dysmorphia
Describe FISH.
Fluorescent in situ hybridisation. Hybridises with a fluorescent tag.
Which genetic screening test is more useful for the entire genome?
Array CGH
Which genetic screening test is more useful for smaller mutation?
NGS - next generation sequencing
What is mosaicism?
When a person has two different sets of DNA, each expressing different phenotypes. Somatic unlike X-inactivation
