Solved by a verified expert:I want someone help me to restatement my commentary because I use many sentences from wikipedia. This is absolutely not permitted, so “I need a person help to reedit this commentary. Be sure to use the different sentences to keep the my original meaning.This is the commentary requirements:Use the internet to find one human genetic disorder that is caused by a point mutation. Write 0.5 page to 1 page (double spaced) describing the name of the gene, its biochemical function (i.e. what does the protein do in the cell?), the phenotype that occurs when the gene is mutant, and the type of mutation it is (missense, nonsense, etc). Do not quotes and cite any sources used.Simo
Li830461003Point mutations are
generally caused by a change in the single nucleotide, either by deletion,
insertion or base change, in the DNA or RNA material; this is a change in the
genetic material structure, the organism that is affected by the point mutation
is known as appoint mutant, that is the organism that the genetic material
changes. Point mutations sometime can cause a genetic disorder. For example,
sickle cell anemia is a specific genetic disorder in human populations. It is
caused by a point mutation of a single nucleotide at position 6 (GAG-GUG) in
the-globin
gene, and the glutamic acid being substituted by valine.
This is amissense
mutation.As we know, hemoglobin
which is used by human’s red blood cells to carry oxygen. And hemoglobin consists
of four globin subunits (two-globin
and two-globin).
The-globin
gene provides instruction for making-globin.
Because of the point mutation, the hydrophobic side chain of the valine residue
at position 6 of the beta chain in hemoglobin is able to associate with the
hydrophobic patch, causing hemoglobin S molecules to aggregate and form fibrous
precipitates. It will change the shape of red blood cell. Therefore, the
ability of these red blood cells will decrease. Sickle-cell disease is
associated with a number of acute and chronic health problems, such as severe
infections, attacks of severe pain, stroke, and an increased risk of death.
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