Slide 1: Genetics and Evolution - Molecular Basis of Inheritance - Mutation

Definition of mutation
Types of mutations:
- Point mutations
  - Base substitution
    - Transition mutation
    - Transversion mutation
  - Insertion mutation
  - Deletion mutation
- Frameshift mutations
Examples of mutations in humans and other organisms
Importance of mutations in evolution and genetic diversity

Slide 2: Point Mutations

Definition of point mutations
Types of point mutations
- Base substitution
- Insertion
- Deletion
Impact of point mutations on DNA sequence
Examples of diseases caused by point mutations

Slide 3: Base Substitution Mutations

Definition of base substitution mutations
Types of base substitution mutations
- Transition mutation
- Transversion mutation
Effect of base substitution mutations on protein structure and function
Examples of diseases caused by base substitution mutations

Slide 4: Transition Mutations

Definition of transition mutations
Examples of transition mutations
Impact of transition mutations on DNA sequence and protein structure/function
Relation between transition mutations and genetic diseases

Slide 5: Transversion Mutations

Definition of transversion mutations
Examples of transversion mutations
Effect of transversion mutations on DNA sequence and protein structure/function
Association between transversion mutations and genetic disorders

Slide 6: Insertion Mutations

Definition of insertion mutations
Mechanism of DNA insertion
Impact of insertion mutations on DNA sequence and protein structure/function
Diseases caused by insertion mutations

Slide 7: Deletion Mutations

Definition of deletion mutations
Mechanism of DNA deletion
Effect of deletion mutations on DNA sequence and protein structure/function
Diseases associated with deletion mutations

Slide 8: Frameshift Mutations

Definition of frameshift mutations
Causes of frameshift mutations
Types of frameshift mutations
- Insertion frameshift mutation
- Deletion frameshift mutation
Consequences of frameshift mutations at the protein level
Disorders caused by frameshift mutations

Slide 9: Examples of Mutations in Humans

Sickle cell anemia - an example of base substitution mutation
Huntington’s disease - an example of insertion mutation
Cystic fibrosis - an example of deletion mutation
Duchenne muscular dystrophy - an example of frameshift mutation

Slide 10: Importance of Mutations in Evolution and Genetic Diversity

Role of mutations in creating genetic variability
Role of mutations in adaptation and evolution
Genetic diseases as a result of detrimental mutations
Mechanisms of DNA repair to minimize the impact of mutations

Slide 11: DNA Repair Mechanisms

Importance of DNA repair mechanisms
Types of DNA repair mechanisms
- Mismatch repair
- Nucleotide excision repair
- Base excision repair
- Homologous recombination repair
- Non-homologous end joining
Role of DNA repair mechanisms in maintaining genetic stability
Examples of genetic disorders caused by defective DNA repair

Slide 12: Genetic Disorders Caused by Mutations

Overview of genetic disorders
Examples of genetic disorders caused by mutations
- Down syndrome (trisomy 21)
- Turner syndrome (monosomy X)
- Klinefelter syndrome (XXY)
- Hemophilia
- Tay-Sachs disease
Impact of these genetic disorders on individuals and families

Slide 13: Mutations in Oncogenes and Tumor Suppressor Genes

Role of mutations in oncogenes and tumor suppressor genes in cancer development
Oncogenes:
- Definition and function
- Examples of oncogenes
Tumor suppressor genes:
- Definition and function
- Examples of tumor suppressor genes
Relationship between mutations in these genes and cancer development

Slide 14: Mutations and Antibiotic Resistance

How mutations contribute to antibiotic resistance in bacteria
Mechanisms of antibiotic resistance
- Target modification
- Drug efflux pumps
- Enzymatic inactivation of antibiotics
Role of horizontal gene transfer in spreading antibiotic resistance genes
Real-life examples of antibiotic-resistant bacteria and their impact on healthcare

Slide 15: Mutations and Genetic Engineering

Importance of mutations in genetic engineering
Mutagens used in inducing mutations for genetic engineering purposes
Applications of induced mutations in genetic engineering
- Crop improvement
- Production of therapeutic proteins
- Disease modeling in animals
Ethical considerations in genetic engineering using mutations

Slide 16: Mutations and Evolutionary Adaptation

How mutations drive evolutionary adaptation
Beneficial mutations and natural selection
Role of mutations in creating new traits and characteristics
Examples of evolutionary adaptations driven by mutations in various organisms

Slide 17: Mutations and Genomic Medicine

Mutations as diagnostic and prognostic markers in genomic medicine
Genetic testing and counseling for mutations
Precision medicine and targeted therapies based on specific mutations
Future perspectives of using mutations in personalized medicine

Slide 18: Effects of Mutations on Protein Structure

Impact of mutations on protein structure and function
Silent mutations and their minimal effect on protein structure
Missense mutations and their varying effects on protein structure and function
Nonsense mutations and the production of truncated proteins
Frameshift mutations and the alteration of the entire protein sequence

Slide 19: Effects of Mutations on Gene Regulation

Mutations in regulatory regions and their impact on gene expression
Promoter mutations and their effects on transcription initiation
Enhancer mutations and the disruption of transcriptional regulation
Repressor mutations and the loss of gene repression
Mutations in microRNA binding sites and altered post-transcriptional regulation

Slide 20: Environmental Factors and Mutagenesis

Environmental factors that can induce mutations
- Chemical mutagens
- Radiation-induced mutagenesis
- High-energy particles and their mutagenic effects
Effects of mutagens on DNA integrity and repair mechanisms
Strategies for minimizing exposure to mutagens in the environment
Importance of mutagenesis research in public health and environmental protection

Slide 21: Mutations in Non-Coding DNA

Importance of non-coding DNA in gene regulation and genome organization
Mutations in regulatory regions, such as promoters and enhancers
Impact of non-coding mutations on gene expression and phenotype
Examples of diseases caused by mutations in non-coding DNA
Understanding the role of non-coding mutations in complex traits and diseases

Slide 22: Germline vs. Somatic Mutations

Definition and distinction between germline and somatic mutations
Occurrence of germline mutations in the germ cells (sperm and egg)
Transmission of germline mutations to the offspring and their hereditary nature
Somatic mutations in non-reproductive cells and their effect on an individual
Relationship between germline and somatic mutations in cancer development

Slide 23: Mutation Rates and Factors Influencing Mutations

Definition and determination of mutation rates
Spontaneous vs. induced mutations
Factors influencing mutation rates:
- DNA replication errors
- Exposure to mutagens
- DNA repair efficiency
- Length and stability of DNA sequences
Examples of factors influencing mutation rates in different organisms

Slide 24: Mutation Detection Techniques

Importance of mutation detection for diagnosis and research
Traditional mutation detection techniques:
- Sanger sequencing
- Allele-specific PCR
- Restriction fragment length polymorphism (RFLP)
- Southern blotting
Next-generation sequencing (NGS) for comprehensive mutation analysis
Advantages and limitations of different mutation detection methods

Slide 25: DNA Mutational Signatures

Definition and significance of DNA mutational signatures
Mutational patterns associated with specific mutagens or DNA repair deficiencies
Use of mutational signatures in cancer research and forensic genetics
Techniques for identifying and interpreting mutational signatures
Examples of mutational signatures and their implications

Slide 26: Mutational Load and Genetic Load

Concept of mutational load and genetic load
Definition and calculation of mutational load
Impact of mutational load on individual fitness and population health
Genetic load as a measure of detrimental mutations in a population
Factors influencing mutational and genetic load in different species

Slide 27: Mutation and Evolutionary Conservation

Conserved genes and their significance in evolutionary biology
Relationship between mutations and evolutionary conservation
Role of conserved mutations in understanding evolutionary relationships
Examples of highly conserved genes and their functional importance
Conservation of mutations in disease-associated genes across species

Slide 28: Mutation and Genetic Variation in Populations

Importance of genetic variation in populations
Sources of genetic variation: mutations, recombination, and gene flow
Role of mutations in generating new alleles and genetic diversity
Impact of genetic variation on population fitness and adaptation
Genetic variation as a substrate for natural selection

Slide 29: Future Perspectives in Mutations Research

Emerging technologies for studying mutations
- Single-cell sequencing
- Genome editing tools (CRISPR-Cas9)
- Nanopore sequencing
- High-throughput mutation detection methods
Potential applications of mutation research in medicine and biotechnology
Ethical considerations and implications of manipulating mutations
Collaborative efforts and databases for sharing mutation data
Future directions and challenges in the field of mutation research

Slide 30: Summary

Recap of key points covered in the lecture:
- Definition and types of mutations
- Impact of mutations on DNA sequence, protein structure, and gene regulation
- Examples of diseases caused by mutations
- Importance of mutations in evolution and genetic diversity
- Role of mutations in cancer development, genetic engineering, and genomic medicine
Remind students about the significance of understanding mutations in biology
Encourage further reading and exploration of the topic
Open the floor for questions and discussion

</p>

</div>
				</div>

function transformCallouts() {
      var slides = document.querySelectorAll('.reveal .slides section');
      slides.forEach(function (slide) {
        var data = document.getElementsByTagName("Success");
        for (let i = 0; i < data.length; i++) {
          data[i].classList.add("callout");
          data[i].classList.add("callout-success");
        }

var data = document.getElementsByTagName("Default");
        for (let i = 0; i < data.length; i++) {
          data[i].classList.add("callout");
          data[i].classList.add("callout-default");
        }

var data = document.getElementsByTagName("Warning");
        for (let i = 0; i < data.length; i++) {
          data[i].classList.add("callout");
          data[i].classList.add("callout-warning");
        }

var data = document.getElementsByTagName("Primary");
        for (let i = 0; i < data.length; i++) {
          data[i].classList.add("callout");
          data[i].classList.add("callout-primary");
        }

var data = document.getElementsByTagName("Danger");
        for (let i = 0; i < data.length; i++) {
          data[i].classList.add("callout");
          data[i].classList.add("callout-danger");
        }
      });
    };

function addrfit() {
      var slides = document.querySelectorAll('.reveal');
      slides.forEach(function (slide) {
        var temp = document.getElementsByTagName("h2");

if (temp.length > 0) {
          for (let i = 0; i < temp.length; i++) {
            temp[i].classList.add("r-fit-text");
          }
        }

var temp3 = document.getElementsByTagName("h1");

if (temp3.length > 0) {
          for (let i = 0; i < temp3.length; i++) {
            temp3[i].classList.add("r-fit-text");
          }
        }

var temp6 = document.getElementsByClassName("text-container");

if (temp6.length > 0) {
          for (let i = 0; i < temp6.length; i++) {
            var charcount = 0;
            var ptags = temp6[i].getElementsByTagName("p");
            try {
              for (let j = 0; j < ptags.length; j++) {
                temp = ptags[j].outerText.replaceAll(" ", "");
                temp = temp.replaceAll("\n", "");
                charcount += temp.length;
              }
            } catch (err) {
              console.log(err);
            }

var font = 35;

if (charcount > 50 && charcount < 100) {
              font = 35;
            } else if (charcount > 100 && charcount < 120) {
              font = 33;
            } else if (charcount > 120 && charcount < 150) {
              font = 33;
            } else if (charcount > 150 && charcount < 170) {
              font = 31;
            } else if (charcount > 170 && charcount < 200) {
              font = 30;
            } else if (charcount > 200 && charcount < 230) {
              font = 29;
            } else if (charcount > 230 && charcount < 250) {
              font = 28;
            } else if (charcount > 250 && charcount < 270) {
              font = 27;
            } else if (charcount > 270 && charcount < 300) {
              font = 25;
            } else if (charcount > 300 && charcount < 330) {
              font = 23;
            } else if (charcount > 330 && charcount < 360) {
              font = 24;
            } else if (charcount > 360 && charcount < 390) {
              font = 22;
            } else if (charcount > 390 && charcount < 420) {
              font = 21;
            } else if (charcount > 420) {
              font = 20;
            }

temp6[i].style.fontSize = `${font}px`;
          }
        }
      })
    }

Reveal.addEventListener('ready', addrfit);
    Reveal.addEventListener('ready', transformCallouts);
  </script>