Research Paper about Gene Mutation
In biology, a mutation changes a DNA sequence, and a gene mutation is a change in one or more genes. Alterations in the nucleotide sequence of the genome of an organism, virus, or extrachromosomal DNA result from mutations. Viral genomes contain either DNA or RNA. Mutations result from errors during DNA or viral replication, mitosis, meiosis, or other types of damage to DNA, such as pyrimidine dimers caused by exposure to ultraviolet radiation.
(Medline 2018). There are several types of mutations as Deletion, Point mutation, Silent mutation, and Missense mutations. Deletion changes DNA sequence by removing at least one nucleotide in a gene, whereas point mutation changes a single nucleotide in DNA. The silent modification does not affect the sequence of amino acids in a protein; on the other hand, missense mutations replace one protein building block (amino acid) with another (Medline 2018).
Reflection/Implications:
As a result, most genes belong to larger gene families of shared ancestry, detectable by their sequence homology. The most common genetic disorders that derive from gene mutations are down syndrome, cystic fibrosis, thalassemia, and sickle cell anemia, to name a few. Several methods produce novel genes, commonly through the duplication and mutation of an ancestral gene or by recombining parts of different genes to form new combinations with new functions. For example, Sickle cell anemia (sickle cell disease) is one of the most common inherited blood disorders derived from gene mutations. The disease primarily affects African Americans, and it’s estimated that nearly 100,000 Americans are affected with sickle cell anemia ( ). The condition requires the inheritance of two sickle cell genes. This blood disorder is caused by inherited abnormal hemoglobin (the oxygen-carrying protein within the red blood cells). Under a microscope, this abnormal hemoglobin causes a distorted (sickled in appearance) red blood cell.
Other types of mutation occasionally create new genes from previously noncoding DNA. Changes in chromosome number may involve even more significant mutations, where segments of the DNA within chromosomes break and then rearrange. For example, cancer is a mutation that creates an abnormal protein or prevents a protein’s formation. These two types of mutations are called Acquired mutations and Germline mutations. Acquired mutations are the most common cause of cancer, and they occur from damage to genes in a particular cell during a person’s life.
In comparison, Germline mutations are less common. A germline mutation occurs in sperm and an egg. A single mutation will not likely cause cancer; usually, it results from multiple mutations over a lifetime. For example, in the case of breast cancer, breast cells divide many times and form a tumor ( ). A tumor is an abnormal mass; cancer occurs because of acquired mutations (sporadic cancer). Factors that cause these mutations include tobacco, radiation, viruses, and age. Acquired mutations are not found in every cell in the body and are not passed on from parent to child.
Citations:
Gene Mutation. (2005–2021). https://www.cancer.net/navigating-cancer-care/cancer-basics/genetics/genetics-cancer
