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Point mutations
- single nucleotide substitution
- a. transition: pur-->pur, pyr-->pyr (4 types)
- b. transversion: pur-->pyr etc (8 types)
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Frameshift
nucleotide insertion or deletion: causes nonsynonymous substitution (if in exons)
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Deletion
- Loss of spacers: Not even transcription
- Loss of introns: no translation
- Loss of exon: no protein coding
- or gene or chromosome loss (during recombination)
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Duplication
- Gain of introns, exons or spacers (during recombination or transposable elements)
- Tandem: gene duplicated tandemly, ie ABCDE chromosome adds ABBCDE in that order on the chromatid
- Transposition: gene duplicated not next to itself, ie AB-CDE chromatid adds B at location under C so now chromatid is AB-CBDE
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Inversion
- Reversal of normal chromosomal 5-3' direction of some DNA seq (during recomb or transposition)
- Paracentric: NOT involving Centromere, ie AB-CDE chromatid (- is centromere) is now BA-CDE
- Pericentric: involving Centromere, ie AB-CDE becomes AC-BDE
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Translocation
- Movement of chromosomal regions to different chromosomes to DIFFERENT chromosomes (usually by transposition)
- Reciprocal: the loss of one to another chromosome is reciprocated, ie AB-CDE + F-GH becomes FB-CDE + A-GH
- Non-Reciprocal: ie, AB-CDE + F-GH becomes B-CDE + AF-GH
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