Introduction: Genetic mutations are associated with changes in the genomic sequence that are the main cause of diversity among organisms. The changes in genetic sequence can occur at any instance and are known to have different consequences. Mutations are often associated with a change that affects the nucleic acids in most organisms. Nucleic acids are considered as the building blocks of DNA. On the other hand, DNA are associated with the storage of information that is transferred to the offspring during reproduction. Mutations are associated with diversity and considered as an essential part in evolution. Genetic mutation is considered to be random. However, many researchers claim that mutations may not necessarily be random. Mutations are also considered to be an inescapable part of reproduction. Mutation rates never reach zero due to various factors like DNA replication, DNA proofreading, and high-level mechanisms.
(Loewe, L. 2008)
The difference between inherited mutations versus point mutations: There are different kinds of mutations that occur in the human body. It is important to understand the basic structure of DNA and the normal sequence. Changes in a single base pair are considered as point mutations. Point mutations occur during different stages of growth and development. On the other hand, inherited mutations affect the germ line of the organism. Inherited mutations take place for the benefit of the organism. Inherited mutations are associated with evolutionary traits and considered to be vital for proper growth and development. Many researchers consider point mutations to occur due to mismatching of pairs during DNA replication or external environmental factors like UV rays and carcinogens. However, there is a possibility of point mutations to be inherited in the germ line of the organism. In this case, the point mutation is said have been inherited. The paper highlights the importance of mutations in the human body, the detection of mutations and the advancements in personalized medication. (Loewe, L. 2008)
Technology in the detection of mutations and prediction of health
Mutations in organisms are associated with genetic disorders. It is important to detect mutations. Many of the techniques involve novel detection methods. Many technologies have been improved and developed to detect genetic mutations in different organisms. However, researchers have developed new mutation detection systems that are precise and accurate. Some of the most advance mutation detection methods have been mentioned here below;
Allele Specific Oligonucleotides (Predicts Chronic Diseases): The method was used to detect one or more specific mutations in the population. The method utilizes nucleotide probes that are specific for short nucleotide sequences. The technique is considered to be simple and cost-effective. The technique was employed for the detection of genes associated with chronic diseases like diabetes and cancer. (Farabee, MJ 2001).
Protein truncation test (PTT) (Predicts Breast cancer): Mutations that arise from termination of mRNA translation process are detected by the PTT technique. Most BRCA1 AND BRCA2 mutations are associated with truncated or short proteins. The advantage of PTT method is that, it can detect mutations of large kilo-bases. However, it cannot detect silent mutations and polymorphism. The technique is widely used for the detection of breast cancer.
Heteroduplex analysis (HDA) (Predicts neurological genetic disorders): The technique is based on the principle of denaturation and renaturation of DNA sequences. The process of denaturation is followed by renaturation. However, if a mutation is present in the sequence, the resultant DNA is likely to form a heteroduplex state. Thus, mutations in the DNA sequence can be confirmed. HDS method has been employed to detect point mutations. The technique has been utilized to detect hereditary diseases like Alzheimer’s and Parkinson’s. (Loewe, L. 2008)
DNA microarray technology (Predicts cancer and diabetes): DNA microarray technology is considered to be one of best methods to detect mutations. The technique is based on hybridization of DNA fragments with probed (colored) DNA fragments. Genes that are hybridized the least are colored green while genes hybridized the most are colored red.
Denaturing Gradient Gel Electrophoresis (DGGE) (Prediction of breast cancer): The method was utilized to detect selective retention of mutated BRCA1 alleles. The method is based on the principle of different sequences of double-stranded DNA and their corresponding denaturing conditions. The method is primarily utilized for the detection of breast cancer.
Utilizing genetic mapping to develop personalized medical treatment: Personalized medication has revolutionized the potential of patient care. Genetic mapping of an individual is considered to be a life-saving intervention. Genetic profiling is associated with the detection of genes associated with chronic diseases like cancer and neurological disorders. The treatment of genetic disorders is based on the pharmacological properties of drugs. However, not all patients with genetic disorders benefit from therapeutic drug interventions. The success of therapeutic drug intervention is associated with the genetic profile of the patient. Pharmacogenomics and pharmacogenetics form the basis of personalized medication. Pharmacogenetics is associated with the drug function in the body based on the genetics of the individual. Genetic mapping would help physicians and researchers to minimize the side-effects associated with drug interventions. Patients with a family history of acute diseases like cancer would benefit from gene mapping. Gene mapping would minimize the cost and time-associated in the drug development process. Since the drugs are based on the genetic profile of the patient, there is minimal rate of side-effects.
Risks of obtaining Personal Genome: Obtaining personal genomic sequence is associated with genetic discrimination. There is a high rate of social discrimination by employers and health insurers. Individuals may misinterpret data and lead to emotional and psychological distress. The technology may hamper the personal privacy of an individual since a small amount of DNA could be used to detect the person’s race, height, genetic diseases and facial structure. The risk of employment is associated with personal genomic verification.
Conclusions: Genetic mutations are associated with changes in the genomic sequence that are the main cause of diversity among organisms. The changes in genetic sequence can occur at any instance and are known to have different consequences.Mutations in organisms are associated with genetic disorders. It is important to detect mutations. Many of the techniques involve novel detection methods. Allele Specific Oligonucleotides, Protein truncation test (PTT), Heteroduplex analysis (HDA), DNA microarray technology, and Denaturing Gradient Gel Electrophoresis (DGGE) are some of the key techniques utilized to detect mutations in humans. The techniques have been utilized to predict the health of an individual based on the genetic profile.
Genetic profiling would help physicians to categorize patients based on the severity of the disease. The drug metabolism, pharmacokinetics and pharmacodynamics are controlled with the help of gene mapping. Gene mapping may also prevent the onset of the disease by correcting the defecting gene (Gene therapy). The risks involved in clinical trials and side-effects of traditional drug interventions are prevented with the help of genomic medicine. To conclude, gene mapping is considered to be the best medical intervention with minimal risks and high efficacy.
(Nair., R., S. 2010).
References
BBC Knowledge Explainer - DNA, Accessed February 25, 2014 at http://vimeo.com/60747882
Hain P. and Wambaugh N (2000) University of Nebraska, Transcription/Translation Overview, Accessed on February 25, 2014 at http://plantandsoil.unl.edu/pages/animation.php?a=protein_synthesis.swf&b=990818764
Namuth D and Wambaugh N (2000) University of Nebraska, Transcription/Translation Overview, Accessed on February 25, 2014 at http://plantandsoil.unl.edu/pages/animation.php?a=translation.swf&b=990818766
Farabee, MJ (2001) Introduction to Genetics. Accessed February 25, 2014, at: http://www2.estrellamountain.edu/faculty/farabee/BIOBK/biobookgenintro.html
Farabee, MJ (2001). Gene Interactions. Accessed February 25, 2014, at: http://www2.estrellamountain.edu/faculty/farabee/BIOBK/BioBookgeninteract.html
Loewe, L. (2008) Genetic mutation. Nature Education 1(1):113. Accessed February 25, 2014 at http://www.nature.com/scitable/topicpage/genetic-mutation-1127
Nair., R., S. (2010). Personalized medicine: Striding from genes to medicines. Perspect Clin Res. 2010 Oct-Dec; 1(4): 146–150. Accessed July 02, 2014 at http://www.ncbi.nlm.nih.gov/pmc/articles/PMC3043364/
