Topic 5-2 Flashcards
what are the three main categories of chromosome mutations?
1) chromosome rearrangements
2) aneuploidy
3) polyploidy
alters the strucutre of chromosomes
chromosome rearrangements
alters the number of chromosomes
aneuploidy
one or more complete sets of chromosomes are added
polyploidy
what are the four types of chromosome rearrangements
- duplication
- deletion
- inversion
- translocation
chromosome rearrangements are usually the result of _______ or ________
crossover errors, dsDNA breaks
what is a chromosome duplication?
a mutation where a segment of the chromosome is duplicated
what is a chromosome deletion?
a mutation where a segment of the chromosome is deleted
what is a chromosome inversion?
a mutation where a segment of the chromosome is turned 180 degrees
what is a chromosome translocation?
a mutation where a segment of a chromosome moves to a non-homologous chromosome or to another place on the same chromosome
how are chromosome duplications/deletions detected?
loop structure in the normal chromosome (occurs in order for the homologous sequences of the chr to align)
chromosomal duplication/deletion is often the cause of ________ in humans
red/green colourblindness
what is the main problem with chr duplications?
abnormal development
what is the main problem with chr deletions?
- homozygous = lethal
- heterozygous = whole chr can be lost, recessive mutations can be unmasked, some genes require two copies to properly function
a type of chr deletion where one copy of a gene is not enough
haploinsufficiency