Different types of genetic changes by which they can alter phenotype

Different types of genetic changes by which they can alter phenotype

Types of Genetic Changes and Common Mechanisms by Which They Lead to Phenotypic Alterations

Chromosome abnormalitiesChanges in the number or structure of chromosomes
DNA deletionsDeletions of DNA sequences
DNA insertionsInsertions of DNA sequences
Single Base Changes
MissenseSingle base substitutions leading to a change in amino acid sequence
NonsenseSingle base substitution leading to replacement of an amino acid codon with a stop codon
Splice siteDestruction or creation of a signal regulating the splicing of exons and introns
SynonymousSubstitution of one base for another that does not change the amino acid sequence of a protein coding gene. Some synonymous changes affect transcription, mRNA splicing/transport, or translation, leading to phenotypic abnormalities
Frameshift changesSequence variants (e.g., deletion, insertion, or splice site) leading to a change in the normal open reading frame of a protein coding gene
Regulatory changesSequence changes altering the level of gene expression
DNA expansionRepeat sequences (e.g., triplet repeat disorders) that can change in size over time
Silent DNA changesDNA changes occurring in either noncoding or coding regions of a gene that do not cause phenotypic changes
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