Mutasi titik (point mutation)

dan mutasi kromosom

(chromosome rearrangement)
Apa itu mutasi?
• The term mutation refers to both (1) the change in the genetic material and (2) the process by which the
change occurs.
• An organism that exhibits a novel phenotype resulting from a mutation is called a mutant
• Mutations that involve changes at specific sites in a gene are referred to as point mutations.
Kategori mutasi
• In multicellular organisms, we can distinguish betweet two broad categories of mutations: somatic mutations
and germ-line mutations. Somatic mutations arise in somatic tissues, which do not produce gametes. Germ-
line mutations arise in cells that ultimately produce gametes
Types of Gene Mutations
Base substitutions

• Base substitutions are of two types.

• In a transition, a purine is replaced by a different purine or, alternatively, a pyrimidine is replaced by a
different pyrimidine
• In a transversion, a purine is replaced by a pyrimidine or a pyrimidine is replaced by a purine.
Insertions and deletions

• Insertions and deletions within sequences that encode proteins may lead to frameshift mutations, changes in
the reading frame of the gene
• Frameshift mutations usually alter all amino acids encoded by nucleotides following the mutation, and so
they generally have drastic effects on the phenotype
• Mutations not affecting the reading frame are called in-frame insertions and deletions, respectively.
Expanding nucleotide repeats

• Mutations in which the number of copies of a set of nucleotides increases in number are called expanding
nucleotide repeats.
Efek substitusi basa pada protein yang dihasilkan
Types of Chromosome Mutations