PATHOLOGY

Detailed explanation-1: -Controlling the production of specific proteins. Which of the following would be the most immediate result of a gene mutation in an organism? A change in a protein produced by the organism.

Detailed explanation-2: -By the same token, any random change in a gene’s DNA is likely to result in a protein that does not function normally or may not function at all. Such mutations are likely to be harmful. Harmful mutations may cause genetic disorders or cancer. A genetic disorder is a disease caused by a mutation in one or a few genes.

Detailed explanation-3: -Cancer is the most common human genetic disease; it is caused by mutations occurring in a number of growth-controlling genes. Sometimes faulty, cancer-causing genes can exist from birth, increasing a person’s chance of getting cancer.

Detailed explanation-4: -Missense: A missense variant is a type of substitution in which the nucleotide change results in the replacement of one protein building block (amino acid) with another in the protein made from the gene. The amino acid change may alter the function of the protein.

Detailed explanation-5: -Mutations caused by insertion or deletion of nitrogenous bases in the DNA sequence leads to the most damage to DNA since it completely changes the reading frame for the process of protein synthesis. Insertion or deletion that results in frameshift mutation are considered as the most damaging mutation.