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Bioinformatics - Essay Example

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Mutations create variation within the gene pool. Less favorable (or deleterious) mutations can be reduced in frequency in the gene pool by natural selection, while more favorable (beneficial or advantageous) mutations may accumulate and result in adaptive evolutionary changes.
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Extract of sample "Bioinformatics"

Download file to see previous pages To function correctly, each cell depends on thousands of proteins to function in the right places at the right times. When a mutation alters a protein that plays a critical role in the body, a medical condition can result. A condition caused by mutations in one or more genes is called a genetic disorder. Some mutations alter a gene's DNA base sequence but do not change the function of the protein made by the gene. Studies in the fly Drosophila melanogaster suggest that if a mutation does change a protein, this will probably be harmful, with about 70 percent of these mutations having damaging effects, and the remainder being either neutral or weakly beneficial (Sawyer , et al 2007).If a mutation is present in a germ cell, it can give rise to offspring that carries the mutation in all of its cells. This is the case in hereditary diseases. On the other hand, a mutation can occur in a somatic cell of an organism. Such mutations will be present in all descendants of this cell, and certain mutations can cause the cell to become malignant, and thus cause cancer (Ionov , et al 1993).
Although many mutations are deleterious, mutations may have a positive effect given certain selective pressures in a population. For example, a specific 32 base pair deletion in human CCR5 (CCR5-32) confers HIV resistance to homozygotes and delays AIDS onset in heterozygotes(Sawyer , et al 2007). The CCR5 mutation is more common in those of European descent. One theory for the etiology of the relatively high frequency of CCR5-32 in the European population is that it conferred resistance to the bubonic plague in mid-14th century Europe. People who had this mutation were able to survive infection; thus, its frequency in the population increased(Ionov , et al 1993). It could also explain why this mutation is not found in Africa where the bubonic plague never reached. Newer theory says the selective pressure on the CCR5 Delta 32 mutation has been caused by smallpox instead of the bubonic plague(Galvani and Slatkin, 2003).
- Render the alignment into a box-shaded diagram. Identify the position of the mutation on the multiple sequence alignment. Can you deduce anything from these data Check that your sequences are appropriately gapped .
3'-AA/860 bp insert :
5'-TTTCATGA----- //----- TCATGAAA-3'
3'-AAAGTACT----- //----- AGTACTTT-5'
3'-TT/860 bp insert :
5'-AATCATGA----- //----- TCATGATT-3'
3'-TTAGTACT----- //----- AGTACTAA-5'
3'-CC/860 bp insert :
5'-GGTCATGA----- //----- TCATGACC-3'
3'-CCAGTACT----- //----- AGTACTGG-5'
3'-GG/860 bp insert :
5'-CCTCATGA----- //----- TCATGAGG-3'
3'-GGAGTACT----- //----- AGTACTCC-5'
Note that for each respective PCR product, the last eight bases at each 3'-end of the DNA are identical. Also note that only the first two and the last two base pair positions vary between the four PCR products. The PCR products were designed in this way to directly measure the effect of 3'-base composition on blunt vector and T-vector efficiency (Novy, Yaeger, and Kolb, 2008).
From the human protein sequence, present any Prosite motif and conserved sequence domains in a sequence diagram. Identify the position of the mutation on the diagram. Can you deduce anything from these data
Representative Sequence Length Mass (Da) A2QKA5
Checksum: FF7C4CB42EEB5629
385 41,846
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