Block 1: Inheritance of disease : week 1 Flashcards
what are the different chromosome structures in relation to the centromere?
Metacentric- The centromere is in the middle. The p and q arm are equal lengths
Submetacentric- The centromere is slighlty off
Acrocentric- the centromere is serverly off and the p arm is very short.
what type of staining do chromosomes undergo?
Giemsa staining
or
flouresent staining
what are the steps of meiosis and explain what happens at each step?
interphase
prophase 1- recombination
metaphase 1- chomosomes line on the equator, random assortment and crossing over occurs
anaphase 1- the chomosomes are pulled to either side
telophase1- two separate cells form
prophase 2- chromosomes condense and the nuclear envelope breaks down, if needed.
metaphase- chromosomes attach to spindle via their centrosomes
anaphase- chromtids are pulled to either side
telophase- new cellls formed
what type of cells undergo meiosis to produces gametes?
germ cells
difference between somatic and germline mutations.
Somatic mutations only effect that individual where as germline mutations effect the germ cells and can also be inherited.
whats a missense mutation?
A missense muation results in a change in a DNA base pair, can result in another AA.
whats a nonsense mutation?
Change in one DNA base which results in the formation of a stop codon.
what is a insertion or deletion mutation?
An insertion is the addition of a new base and a deltion is the removal of the base. This can result in a frameshift.
what is prevalance?
Prevalence is the proportion of a population who have a specific characteristic in a given time period.
# of people in sample with characteristic Prevalence = ━━━━━━━━━━━━━━━━━━━ Total # of people in sample
what is incidence?
Incidence is a measure of the number of new cases of a characteristic that develop in a population in a specified time period.