Chromosome structure mutations Flashcards
Chromosome structure mutations
Alteration to the whole sections of chromosomes, affecting several genes as a result of;
Duplication, Deletion, inversion or translocation
Chromosome structure mutation - duplication
A section of a chromosomes becomes attached to its matching (homologous) chromosome- leading to repeated genes.
Example - proto-oncogenes can become oncogenes due to gene duplication - these oncogenes have high potential to cause cancer.
Evolutionary importance of gene duplication
Duplication of a gene produces a second copy of the gene which is free from selection pressure - it can become altered by single gene mutation without affecting the original genes which produces the protein as normal.
These duplicated genes which could mutate to produce new DNA sequences which could in turn confer a positive advantage to the organism and increase its fitness and chance of survival.
Chromosomes structure mutation - deletion
Section of the chromosome is removed as a region of DNA (or multiple) is left out during replication- therefore some genes are deleted.
Example - Cri du Chat syndrome.
Chromosome structure mutation - inversion
Chromosome breaks in two places and rotates 180°. The sequence of the genes in this section are reversed.
Often results in non viable gametes since the chromosome pairing cannot occur.
Chromosome structure mutation - translocation
A section of a chromosome becomes attached to a different chromosome (not its chromosome homologous partner)
This results in problems pairing chromosomes during gamete formation and lead to non viable gametes.
Effect of chromosome mutations
The substantial changes in chromosome mutations often make them lethal.