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Small-scale mutations. 1  Point mutation â a change in one base in the DNA sequence. 2  Substitution â when one or more bases in the sequence is replaced by the same number of bases (for example, a cytosine substituted for an adenine).3  Inversion â when a segment of a chromosome is reversed end to end.arge-scale mutations. 1  Copy number variation (CNV) is a type of mutation where large chunks of DNA are inserted, repeated or lost. 2  These regions of DNA can be between 10,000 and 5,000,000 bases long. 3  Duplication of genes. 4  When there is an increase in the number of copies of a gene.
if a person inherits from a parent a genetic mutation that causes a certain disease then he or she will usually get the disease sickle cell anemia cystic fibrosis and early onset familial alzheimer s disease are examples of inherited genetic disordersin other diseases a genetic variant may occurenetic mutation a permanent change in a gene that can be passed on to children the rare early onset familial form of alzheimer s disease is associated with mutations in genes on chromosomes 21 14 and 1 genetic risk factor a change in a gene that increases a person s risk of developing a disease