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Molecular Basis of Genotype-Phenotype Relationship: Frameshift and Suppressor Mutations

This article explores the molecular mechanisms underlying the relationship between genotype and phenotype, with a focus on frameshift and suppressor mutations. It also discusses point mutations at the molecular level and the consequences they have on gene products. Additionally, it covers the detection and isolation of target molecules, as well as separation techniques such as gel electrophoresis and blotting.

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Molecular Basis of Genotype-Phenotype Relationship: Frameshift and Suppressor Mutations

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  1. Molecular Basis for Relationship between Genotype and Phenotype genotype DNA DNA sequence transcription RNA translation amino acid sequence protein function phenotype organism

  2. Frameshift Mutations and Suppressor Mutations frameshift mutations: insertions or deletions of nucleotides that cause a shift in the translational reading frame suppressor mutations: mutations that counteract or suppress the effects of another mutation wild-type CAUCAUCAUCAUCAU HIS HIS HIS HIS HIS addition of A deletion of A CAUACAUCAUCAUCAU__ HIS THR SER SER SER . CAUACUCAUCAUCAU HIS THR HIS HIS HIS deletion of U addition of G CAUCACAUCAUCAU__ HIS HIS ILE ILE . CAUCACGAUCAUCAU HIS HIS ASP HIS HIS

  3. Mutation: Levels of Hereditary Change Gene (Point) Mutation: One allele changes to a different allele. Effects are limited to that locus. Chromosome Mutation: Changes occur at the chromosome level. Multi-locus effects are not unusual.

  4. Molecular Basis for Relationship between Genotype and Phenotype genotype DNA DNA sequence transcription RNA translation amino acid sequence protein function phenotype organism

  5. Point mutations at the molecular level Base substitution: change in base of nucelotide pair Base additions: insertion of nucleotide pairs Base deletions: deletion of nucleotide pairs

  6. Point mutations at the molecular level

  7. Consequences of Point Mutations within Genes Refer to Figure 16-2, Griffiths etal., 2015.

  8. Point Mutations Can Alter mRNA Splicing Refer to Figure 16-3, Griffiths etal., 2015.

  9. Point Mutations on Gene Products Refer to Figure 16-4, Griffiths etal., 2015.

  10. Detection and Isolation of Target Molecules For Nucleic Acids 1. cDNA of a specifc gene 2. Homologous DNA of gene from related organism 3. Synthetic DNA based on amino acid sequence of protein For Proteins 1. Antibodies

  11. Separation of Molecules by Gel Electrophoresis Subject molecules to electrical field in a matrix. Separation of molecules is based on: 1. net charge 2. size 3. shape

  12. Blotting Techniques SouthernAnalysis DNA fragments are electrophoresed and probed with DNA or cDNA for specific sequence. NorthernAnalysis RNA molecules are electrophoresed and probed with cDNA for specific sequence. WesternAnalysis Proteins are electrophoresed and probed with antibody for specific protein.

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