Gene mutation is a permanent alteration in the DNA nucleotide sequence, such that the sequence is different from what is commonly found. Mutations range in size; they can affect anywhere from a single base pair, to a large segment of a chromosome. Gene mutations can be categorized in two major ways, hereditary and acquired or somatic mutation. Hereditary mutations are mutations inherited from a parent. These mutations are present in virtually every cell of the body, and are present throughout a person’s life. Since these mutations are present in the parent’s sperm or egg cells, which are called germ cells, these mutations can also be called germline mutations.
Acquired mutations, on the other hand, occur at some point during a person’s life, …show more content…
“Insertions are mutations in which extra base pairs are inserted into a new place in the DNA.” Deletions are the opposite of insertions. While extra base pairs are added in insertions, in deletions, “a section of DNA is lost, or deleted.” Both insertion and deletion cause a frameshift in the DNA nucleotide sequence. In substitution, one base pair is substituted for another (i.e. a change in a single nucleotide such as switching a Thymine (T) with a Guanine …show more content…
An individual with this disorder either has a missing chromosome (Monosomy) or one or more extra copies of a chromosome (one extra is trisomy, two extra is tetrasomy).
Most genetic disorders, however, are categorized as complex. Complex or multifactorial disorders are not a result of a mutation in one gene or a change in the chromosome, rather they result from “a complex interplay of mutated genes and the environment”.
Genetic disorders are the cause of genetic diseases like sickle cell anemia. Sickle cell anemia is a severe hereditary disease in which “a mutated form of hemoglobin distorts the red blood cells into a crescent shape at low oxygen levels.” Sickle cell disease is a result of a single nucleotide change in the DNA sequence of hemoglobin-Beta gene found on chromosome 11. This missense mutation substitutes the nucleotide Adenine (A) for Thymine (T), resulting in an mRNA sequence that codes for the amino acid Valine (V) instead of glutamic acid
Acquired mutations, on the other hand, occur at some point during a person’s life, …show more content…
“Insertions are mutations in which extra base pairs are inserted into a new place in the DNA.” Deletions are the opposite of insertions. While extra base pairs are added in insertions, in deletions, “a section of DNA is lost, or deleted.” Both insertion and deletion cause a frameshift in the DNA nucleotide sequence. In substitution, one base pair is substituted for another (i.e. a change in a single nucleotide such as switching a Thymine (T) with a Guanine …show more content…
An individual with this disorder either has a missing chromosome (Monosomy) or one or more extra copies of a chromosome (one extra is trisomy, two extra is tetrasomy).
Most genetic disorders, however, are categorized as complex. Complex or multifactorial disorders are not a result of a mutation in one gene or a change in the chromosome, rather they result from “a complex interplay of mutated genes and the environment”.
Genetic disorders are the cause of genetic diseases like sickle cell anemia. Sickle cell anemia is a severe hereditary disease in which “a mutated form of hemoglobin distorts the red blood cells into a crescent shape at low oxygen levels.” Sickle cell disease is a result of a single nucleotide change in the DNA sequence of hemoglobin-Beta gene found on chromosome 11. This missense mutation substitutes the nucleotide Adenine (A) for Thymine (T), resulting in an mRNA sequence that codes for the amino acid Valine (V) instead of glutamic acid