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Our biological system consists of many components, ranging from the tiniest cell to different types of molecules. These cells have a nucleus that works as the control centre because of its content. Nucleic acids present in the form of DNA and RNA govern almost all processes. How? Let me give you a little briefing about it. DNA is present in the genes that influence the genotype and phenotype of organisms. The characteristics of an individual are determined by the genes transmitted to him by his parents in equal amounts. This DNA also codes for the synthesis of RNA and proteins, which are the most important molecules. Therefore, genes containing these DNA molecules are the fundamental segment of heredity and genetics.
All traits, be they genotype or phenotype, are controlled by genes. If a person is short in height, it is because either the mother or father, or both of them, are short in height. Genetics explain the behaviour, diseases, and other necessary aspects associated with an individual. If an individual exhibits varied characteristics from their parents, it is likely that the genes were recessive in the parents, but the child has a set of recessive genes and thus shows new characteristics. This can be a very common cause of genetic diseases. This way, genes pass on from generation to generation; however, they can also be altered with time due to mutation, technologies, environmental changes like the impact of disasters, and more.
There are multiple types of gene mutations that can lead to various disorders. Not every mutation is harmful; however, most of them are. People may carry mutations with no specific alteration in the phenotype, but they can affect the progeny if expressed. Pathogenic variation affecting the gene quality or quantity will lead to disturbed instructions and thus the overall genetic composition and cell functioning. Different approaches, like reverse and forward genetics, can be used in the study of functional genetics. Let’s study each of them along with the similarities and differences between them as well.
When the altered gene sequence is identified and studied for a change in a particular phenotype, this is known as the forward genetics approach. So, an altered phenotype is observed, followed by the identification of the gene responsible for the alteration.
Nucleotides make up these sequences in the gene that later form the blueprint of the genome. Any changes arising in the gene sequence, like deletion, addition, substitution, or inversion, will impact the phenotype. The mutant phenotype can generally happen either due to an induced mutation or a spontaneous mutation. Here, the former occurs naturally due to errors in the genomic processes, while the latter is caused by mutagens and technologies.
In this approach, the main tool is random mutation, where mutagens are integrated anywhere in the genome to obtain the required phenotype. The mutant allele producing the required phenotype is known by using genetic markers and crossbreeding methods. By the end, the relationship between the mutant allele and the mutant phenotype is confirmed by microarrays.
Contrary to forward genetics, reverse genetics is an approach where the gene sequence is already known. The mutant phenotype is analysed with respect to the changes in the altered gene. Specifically engineered gene sequences are also used to study possible phenotypic changes. Hence, in this approach to functional genomics, the aim is to find the possible phenotypes arising from changes in the gene sequence.
Different tools are used to induce mutations in the gene sequences so that they produce variable phenotypes. Various induced mutations in the gene will help to know what all the possible functions or phenotypes of the genes are. Gene knockout, or gene disruption, is one of the tools that change the gene sequence by eliminating or inactivating a gene or its part. Similarly, the addition of a cloned gene or the silencing of a gene will alter the gene sequence, which will eventually affect the overall gene function. Affecting the gene sequence will produce a changed phenotype in the present or successive generations, which can be studied to determine the function of the gene or the phenotype associated with the gene.
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Forward and reverse genetics are important approaches to functional genomics as they help to understand the relationship between genotype and phenotype. Moreover, they assist in the understanding of genes' importance in biological pathways and genetic disorders. They are also an excellent aid in the discovery of potential drug targets as they can be broadly studied in various biological models.
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