mutasi

Mutasi, or mutation, is a heritable change in the genetic material of an organism. It can involve alterations to the DNA sequence within a gene or larger structural changes that affect whole chromosomes. Mutations can occur in germline cells, which are passed to offspring, or in somatic cells, which affect only the individual. Over generations, mutations provide the raw material for evolution by generating genetic variation, and their effects can be neutral, deleterious, or, in rare cases, beneficial.

Mutations are commonly classified by scale and mechanism. At the smallest scale, point mutations substitute, insert, or delete a single nucleotide, sometimes causing a frameshift. Larger-scale changes include insertions, deletions, duplications, inversions, and translocations. Chromosomal mutations involve segments or whole chromosomes and can alter gene dosage or arrangement. Mutations can arise spontaneously during DNA replication or be induced by mutagens, such as certain chemicals, ionizing radiation, or biological agents. The environment and genetic background influence the ultimate effect of a mutation.

Mutasi has wide-ranging implications. In individuals, mutations can cause inherited disorders or contribute to cancer when changes accumulate in somatic cells. In populations, they generate genetic diversity that can be acted upon by natural selection. Scientists detect and study mutations using DNA sequencing, targeted assays, and comparative genome analyses, and they assess their pathogenicity with guidelines and databases. Cellular repair mechanisms, including proofreading and various DNA repair pathways, work to correct errors and limit mutation rates. Mutation rates vary by organism, genomic region, and exposure to mutagens.