mutations Flashcards
define mutation
a change in DNA structure, amount or arrangement
where do mutations usually occur
in somatic cells- cells undergoing meiosis
define muatgen
chemicals or radiation which increase the rate of mutation
give some examples of mutagens
1) ionising radiation
2) chemicals such as polycyclic hydrocarbons
what is a carcinogen
a mutation which causes caner
list the two different types of mutation and give an example of what it may cause
1) chromosome mutation- down syndrome
2) gene mutation- sickle cell anemia
define a chromosome mutation
a mutation causing large changes in chromosome structure and number affecting many genes and visible under a light microscope
define a gene mutation
small changes in the base sequence, only affecting a single gene, and is a result of a fault in DNA replication
what are the different types of mutation
1) deletion- a base is lost or deleted
2) insertion- an extra-base is added or inserted
3) substitution- one base is substituted for another
what affects can a substitution mutation have
1) changes in the amino acid produced= missense mutation
2) no change in aminoacid produced= scilent mutation
3) changes the amino acid to a STOP= nonsense mutation
outline sickle cell anaemia
1) a substitution mutation in beta hemoglobin resulting in the 6th amino acid (glutamic acid) being replaced by valine
2) changes the primary structure which in turn alters secondary, tertiary, and quaternary structure
3) causes haemoglobin to stick together forming long fibres making the sickle shaped
4) change in shape of red blood cells decreases ability to bind to oxygen
If a homozygous individual who has sickle cell anaemia (HBs HBs) what will happen to their cells
are their cells will be effected and poteinally fateal
fif an individual is heterozygous for sickle cell anemia ( HBa HBs) what will happen
an example of codominance- half their cells will be affected and oxygen carriage dorps 20%
define cancer
uncontrolled cell division resulting in the production of a tumour made p of undifferentiated cells
what is meant by a malignant tumor
when cells of te tumour break off and are carried in the blood stream forming a secondary tumour