Article
DNA mutation motifs in the genes associated with inherited diseases.
PloS one - 1 Jan 2017
Růžička Michal, Kulhánek Petr, Radová Lenka, Čechová Andrea, Špačková Naďa, Fajkusová Lenka, Réblová Kamila
Abstract excerpt
Mutations in human genes can be responsible for inherited genetic disorders and cancer. Mutations can arise due to environmental factors or spontaneously. It has been shown that certain DNA sequences are more prone to mutate. These sites are termed hotspots and exhibit a higher mutation frequency than expected by chance. In contrast, DNA sequences with lower mutation frequencies than expected by chance are termed...
Topics
- Cystic Fibrosis Transmembrane Conductance Regulator
- DNA
- Factor VIII
- Genetic Predisposition to Disease
- Germ-Line Mutation
- Humans
- Models, Molecular
- Molecular Dynamics Simulation
- Nucleic Acid Conformation
- Nucleotide Motifs
- Receptors, LDL