Genetics Flashcards
(20 cards)
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
Which cancers do HER2 and the Philidelphia chromosomes contribute to?
Breast, blood (leukemia)
What is meant by ‘wild type’?
Normal genome found without mutation
When reading genetic information, what do the codes C and P mean?
C = change in base pairs, P = change in peptide sequence
What is penetrance?
The likelihood of a mutation to cause disease
What are the two types of Mendelian inheritance and the three types of non-Mendelian?
Autosomal/X-linked, mosaicism mitochrondrial and methylation.
