Can Mutations Always Lead To Disease

Rationale

The purpose of this study is to determine if mutations always lead to diseases. Mutation can either lead to diseases or be beneficial to an organism. After further research, there has been evidence that supports certain point mutations can confer beneficial traits to an organism (insert citation). , of which it this demonstrates, that point mutation is detrimental in the homozygous condition. This lead to the research question of whether the point mutation in the homozygous condition always lead to diseases. LINK TO RECESSIVE THERFEORE HAS TO BE IN A HOMOZYGOUS CONDITION TO EXPRESS THE TRAIT. However, if in a heterozygous conditions, the trait will not be expressed. The second broad research question was developed after further evidence

The third research question developed through a mixture of the first two; however, a certain type of point mutation introduced. The third broad research question was established; Does hemoglobin mutations have beneficial traits. These were further refined to specifically consider the haemoglobin mutation and what effects it had on a human body. Point mutation is where there is a change in a single nucleotide (Adenine, Thymine, Guanine and Cytosine). Other types of mutations include insertion, deletion, duplication, frameshift and repeat expansion. (Genetics Home Reference, 2018) Diseases that occur due to mutations, are caused when there is a missing or malformed protein, which leads to a development of a disease. However, linking back to the claim. Not all mutations always cause disease. There is a small percentage of mutations that have been proven to have a positive effect on the human body, this leads to a new version of a protein that helps an individual adapt better to the change in environment (Genetics Home Reference , 2018). A summary of this refinement and the specific research question is Does haemoglobin mutation confer greater beneficial traits to

From this survey, they found one copy of the mutated gene reduced a person’s risk of developing malaria by 29%. However, when someone had two copies of the mutated gene it reduced the risk of malaria by 93%. One in five people studied had at least once copy of the gene mutation which was predicted to heavily spread throughout the country (Randerson, 2001). From the data collected, they found that one in ten surveyed from Burkina Faso, had the haemoglobin mutation that protected them from the malaria disease. The haemoglobin mutation has become very common with those people in the African region, this suggests that these naturally occurring mutations are an evolutionary response made by the body, as mutations are when a new version of a protein that helps an individual adapt better to the change present in the environment (Medicine, Do all gene mutations affect health and development?,