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History of molecular biology - University of San Francisco
History of molecular biology - University of San Francisco

... When a disorder is caused by a mutation in a single gene, the inheritance pattern can be deduced by analyzing pedigrees, and data can be pooled from many large pedigrees When we do not know the actual genetic defect underlying the disease or if great number of diverse mutations in the disease gene e ...
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here

Stem Cells, Cancer, and Human Health
Stem Cells, Cancer, and Human Health

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... HGMD® Professional has adopted a policy of sub-categorizing mutations and polymorphisms. Seven different categories are captured. Get the number of entries for a certain category •DM disease-causing mutation •DM? likely disease-causing mutation •DP disease-associated polymorphism •FP in vitro or in ...
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Jumping Genes - University of South Alabama

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STATE UNIVERSITY OF NEW YORK COLLEGE OF TECHNOLOGY CANTON, NEW  YORK
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Chapter 16 Review

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Mutation



In biology, a mutation is a permanent change of the nucleotide sequence of the genome of an organism, virus, or extrachromosomal DNA or other genetic elements. Mutations result from damage to DNA which is not repaired or to RNA genomes (typically caused by radiation or chemical mutagens), errors in the process of replication, or from the insertion or deletion of segments of DNA by mobile genetic elements. Mutations may or may not produce discernible changes in the observable characteristics (phenotype) of an organism. Mutations play a part in both normal and abnormal biological processes including: evolution, cancer, and the development of the immune system, including junctional diversity.Mutation can result in several different types of change in sequences. Mutations in genes can either have no effect, alter the product of a gene, or prevent the gene from functioning properly or completely. Mutations can also occur in nongenic regions. One study on genetic variations between different species of Drosophila suggests that, if a mutation changes a protein produced by a gene, the result is likely to be harmful, with an estimated 70 percent of amino acid polymorphisms that have damaging effects, and the remainder being either neutral or weakly beneficial. Due to the damaging effects that mutations can have on genes, organisms have mechanisms such as DNA repair to prevent or correct mutations by reverting the mutated sequence back to its original state.
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