what are the three categories of loss-of-function mutations quizlet?
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['base substitution. change the base of a single DNA nucleotide.', 'transition. base substitution in which a purine replace a pyrimidine or a pyrimidine.', 'transversion. ... ', 'insertion. ... ', 'deletion. ... ', 'frameshift mutation. ... ', 'in-frame deletion or insertion. ... ', 'expanding trinucleotide repeats.']
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Genetic disorders can be caused by a mutation in one gene (monogenic disorder), by mutations in multiple genes (multifactorial inheritance disorder), by a combination of gene mutations and environmental factors, or by damage to chromosomes (changes in the number or structure of entire chromosomes, the structures that ...
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By changing a gene's instructions for making a protein, a mutation can cause the protein to malfunction or to be missing entirely. When a mutation alters a protein that plays a critical role in the body, it can disrupt normal development or cause a medical condition.
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['Mutation.', 'Genetic Recombination.', 'Chromosomal Abnormalities.', 'Natural Selection.', 'Reproductive isolation.']
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['hypercholesterolemia.', 'semiautobiographical.', 'abetalipoproteinemia.', 'hyperlipoproteinemia.', 'overenthusiastically.', 'microminiaturization.', 'chlamydobacteriaceae.', 'chemodifferentiation.']
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Genetic changes that are described as de novo (new) mutations can be either hereditary or somatic. In some cases, the mutation occurs in a person's egg or sperm cell but is not present in any of the person's other cells.
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frameshift mutation / frame-shift mutation; frameshift. A frameshift mutation is a genetic mutation caused by a deletion or insertion in a DNA sequence that shifts the way the sequence is read. A DNA sequence is a chain of many smaller molecules called nucleotides.
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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.
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To date, more than 520 different mutations in the PAH gene have been characterized in PKU patients and recorded in the PAH Mutation Analysis Consortium Database (http://www.pahdb.mcgill.ca).
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['Albinism. Albinism is a group of genetic conditions. ... ', 'Angelman syndrome. A rare syndrome causing physical and intellectual disability. ... ', 'Ankylosing spondylitis. ... ', 'Apert syndrome. ... ', 'Charcot-Marie-Tooth disease. ... ', 'Congenital adrenal hyperplasia. ... ', 'Cystic fibrosis. ... ', 'Down syndrome.']
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['mutation.', 'random mating between organisms.', 'random fertilization.', 'crossing over (or recombination) between chromatids of homologous chromosomes during meiosis.']
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There are three major DNA repairing mechanisms: base excision, nucleotide excision and mismatch repair.
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The key difference between forward and reverse mutation is that forward mutation is the mutation that alters the phenotype from wild type to mutant while reverse mutation is the mutation that alters the phenotype from mutant to wild type. A mutation is an alteration of the nucleotide sequence of a gene or a genome.
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Terms in this set (13) Chemicals that cause mutations if cells are exposed to them at high frequencies or for prolonged periods of time. Chemical mutagens cause a change in DNA that alters the function of proteins, as a result, cellular processes are impaired.
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['monostotic fibrous dysplasia – only one bone is affected. ... ', 'polyostotic fibrous dysplasia – two or more bones are affected.', 'McCune-Albright syndrome – fibrous dysplasia can be associated with hormone disturbances and skin pigment changes.']
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There are three types of DNA Mutations: base substitutions, deletions and insertions. Single base substitutions are called point mutations, recall the point mutation Glu -----> Val which causes sickle-cell disease. Point mutations are the most common type of mutation and there are two types.
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['Initiation. ... ', 'Elongation. ... ', 'Termination. ... ', 'Post-translation processing of the protein.']