生体分子研究と治療学ジャーナル

概要

Clinical Trials on Mutations and their Abnormal Changes

Michael Harrison

The genome is composed of one or longer DNA molecules and mutations can occur anywhere in these molecules at any time. The most serious changes occur in genes, which are the functional units of DNA. Mutant forms of genes are called mutated alleles. Genes are usually composed of regulatory regions that turn on / off transcription of the gene at appropriate times during development, and coding regions that carry the genetic code of functional molecules, generally the structure of proteins. .. Proteins are primarily chains of hundreds of amino acids. Cells make 20 common amino acids. This is the unique number and sequence of these amino acids that give the protein its unique function. Each amino acid is three of the four possible base pairs of DNA (A–T, T–A, G–C, and C–G,)

Therefore, mutations that alter the DNA sequence can alter the amino acid sequence and reduce or nullify the function of the protein. Changes in the DNA sequence of the gene’s regulatory regions can adversely affect the timing and availability of the gene’s proteins, leading to severe cellular dysfunction. Many mutations, on the other hand, are silent and have no apparent effect at the functional level. Some silent mutations are of the type that are in the DNA between genes or do not result in significant amino acid changes.

Here, protein domain names act as modules, every with a specific and impartial characteristic, that may be combined collectively to supply genes encoding new proteins with novel properties. For example, the human eye makes use of 4 genes to make structures that experience light three for cone cell or color vision one for rod cell for night time imaginative and prescient. Other kinds of mutation now and again create new genes from formerly noncoding DNA.