Mutations

I. In what ways can genetic information be altered?

A. Genetic information can be altered in many ways such as an error in mitosis or meiosis; however, most
of these alterations occur because of mutations. One type of mutation is point mutations, which are
chemical changes in just one base pair of a gene. If a point mutation occurs in a gamete or in a cell
that gives rise to gametes, it may be transmitted to offspring and to a succession of future generations.
If the mutation has an adverse effect on the phenotype of a human or other animal, the mutant
condition is referred to as a genetic disorder, or hereditary disease. Some different types of point
mutations are base-pair substitutions and insertions and deletions. Mutations can also be caused by
mutagens which interact with DNA to cause mutations.
II. What are some of the effects of these alterations?
A. Base- pair substitution is the replacement of one nucleotide and its partner in the complementary DNA
strand with another pair of nucleotides. Some substitutions are called silent mutations because, owing
to the redundancy of the genetic code, they have no effect on the encoded protein. Substitutions are
usually missense mutations; this means that the altered codon still makes sense, even if it’s not
completely right. However, nonsense mutations are where a codon is turned into a stop codon, which
will lead to a shorter polypeptide than is originally supposed to be encoded. This leads to
nonfunctional proteins.
B. Insertions and deletions are additions or losses of nucleotide pairs in a gene. These mutations have a
disastrous effect on the resulting protein more often than substitutions. Because mRNA is read as a
series of nucleotide triplets during translation, the insertion or deletion of the nucleotides may alter the
reading frame of the genetic message. This is called a frameshift mutation. Unless the frameshift is
very near the end of the gene, it will produce a protein that is almost certain to be nonfunctional.
C. Mutagens can cause incorrect base-pairing during DNA replication, interfere with correct DNA
replications by inserting themselves into the DNA and distorting the double helix, and still other
mutagens cause chemical changes in bases that change their pairing properties.
III. Describe 2 diseases affecting humans that are covered in your textbook which are caused by mutations.
A. One disease that is caused by mutations is cancer. Cancer usually occurs only after many mutations.
However, one of the main things which onsets cancer is a mutation in proto-oncogenes which help
control cell growth and division. When a proto-oncogene has mutated, it is called an oncogene. When
this happens, cell growth and division are affected in mainly two ways. First, either the ras gene
becomes hyperactive which leads to excessive cell division, or the tumor-suppressor gene (p53 gene) is
rendered useless.
B. Another disease caused by mutations is sickle-cell disease. This can be caused by the change of a
single nucleotide in the DNA’s templates strand, which ultimately leads to the production of an
abnormal protein. Individuals who are homozygous for the mutant allele, the sickling of red blood
cells cause by the altered hemoglobin produces the multiple symptoms associated with sickle-cell
disease.