Point Mutation Essay

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Point mutations are generally categorised by what change occurs in the nitrogenous base and how it affects the codon it is a part of. They can occur anywhere in the genome and at any time during the cell cycle. When categorised by effect, point mutations are split up into three groups, missense, nonsense, and silent. Cells have repair mechanisms that correct mistakes such as these however they do not always work. If the repair mechanism fails to fix these mistakes, these mutations can have detrimental repercussions on the organism. Mutations that occur in the germline have the chance of being inherited by the next generation, which can result in its fixation within a population. A point mutation is the change of a single nucleotide within the genetic code during. The nucleotide can be substituted, deleted, or an extra nucleotide can be added in (Zeigler, 2014). Different types of point mutations result in varied protein function. Silent mutations do not change the coded amino …show more content…
People affected by this disease either have one (heterozygous) or two affected copies (homozygous) of the β-globin. The individuals with one affected copy are able to produce a mixture of both sickled haemoglobin and regular haemoglobin, while individuals with two affected copies produce only sickled haemoglobin cells. The homozygous variant of this disease most often results in fatality (at a young age) due to their compromised red blood cells. Since this disease is inherited autosomal recessively, the people (who live to reproductive age) with only one-affected copy are known as carries and are able to pass this mutated gene onto their offspring (Koch et al., 2000). If a carrier mates with an unaffected individual their offspring will have a fifty–per cent chance of being a carrier as well (based on Mendelian genetics). Through the continuation of reproduction this disease can be passed on from one generation to the

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