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Genome and Mutations

QuestionAnswer
What are the functions of the non-coding regions of the genome? Transcribed but not translated to make tRNA and rRNA or to regulate transcription.
What is a mutation? A change in an organisms DNA which can result in no protein or an altered protein being produced.
What is a single gene mutation? the alteration of a DNA nucleotide sequence as a result of the substitution, insertion or deletion of nucleotides.
What are the three results of a substitution? Missense mutations, nonsense mutations or splice-site mutations.
What is meant by a missense mutation? One amino acid being changed for another which may lead to a non-functional protein or have little effect on the protein.
What is meant by a nonsense mutation? A premature stop codon is produced which results in a shorter protein.
What is meant by a splice-site mutation? Some introns being retained and/or some exons not being included in the mature transcript.
What is the result of an insertion or deletion? Frame-shift mutations
What is meant by a frameshift mutation? All of the codons and all of the amino acids after the mutation are changed. This has a major effect on the structure of the protein produced.
What is a chromosome mutation? A change in the number or sequence of genes on a chromosome.
What are the chromosome mutations called? Translocation, Inversion, Deletion, Duplication
What is duplication? Duplication is where a section of a chromosome is added from its homologous partner.
What is deletion? Deletion is where a section of a chromosome is removed.
What is inversion? Inversion is where a section of chromosome is reversed.
What is translocation? Translocation is where a section of a chromosome is added to a chromosome, not its homologous partner.
Explain the importance of duplication in evolution. Duplication allows potential beneficial mutations to occur in a duplicated gene whilst the original gene can still be expressed to produce its protein.
What is meant by the frequency of mutation? How often the mutation occurs.
What is meant by “genome”. All of an organisms hereditary information encoded within its DNA.
What is a gene? DNA sequences that code for protein.
What is the function of the coding regions of the genome? Transcribed and translated to make proteins.
Created by: MISSCBIO
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