conceivable meaning of mutation is therefore a deficiency in DNA repair.
The DNA sequence of a gene can be altered in a number of ways. Gene mutations have varying effects on health, depending on where they occur and whether they alter the function of essential proteins to be nonfunctional or impaired . The types of mutations include:
1.
Missense mutation is a change in one DNA base pair that results in the substitution of one amino acid for another in the protein made by a gene.
2. Nonsense mutation is a change in one DNA base pair. The altered DNA sequence prematurely signals the cell to stop building a protein.
3. Insertion changes the number of DNA bases in a gene by adding a piece of DNA.
4. Deletion changes the number of DNA bases by removing a piece of DNA. Small deletions may remove one or a few base pairs within a gene, while larger deletions can remove an entire gene or several neighboring genes.
5. Duplication consists of a piece of DNA that is abnormally copied one or more times.
6. Frameshift mutation occurs when the addition or loss of DNA bases changes a gene’s reading frame. A reading frame consists of groups of 3 bases that each code for one amino acid. A frameshift mutation shifts the grouping of these bases and changes the code for amino acids.
7. Repeat expansion is when nucleotide repeats are short DNA sequences that are repeated a number of times in a row. A repeat expansion is a mutation that increases the number of times that the short DNA sequence is
repeated.
The majority of mutations are less than favorable. Most hereditary diseases are, by definition, linked with a mutation. An example is:
1. Dwarfism and Midgets,
2. Creutzfeldt-Jakob disease,
3. Hemophilia,
4. Cystic fibrosis, a lethal disorder that clogs the lungs with mucus and typically kills the patient before the age of 30 years;
5. Albinism is condition that results from an inherited defect in melanin metabolism, albinism is marked by an absence of pigment from the hair, skin, and eyes;
6. Down Syndrome, caused by an extra chromosome in the 21st chromosomal pair, is likely to have a wide, flat face and eyes that are slanted one feature is most common of all: mental retardation (Mongoloid);
7. Huntington disease, a condition that strikes people in their forties or fifties and slowly disables their nervous systems. It produces shaking and a range of other symptoms, including depression, irritability, and apathy, and is usually fatal. The gene associated with Huntington's is dominant.