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Chapter 3. A. Gene function Genes and protein synthesis and mutation B. Genetic diseases Identification of genes Pedigrees/DNA markers Diseases (CF, PKU, Albinism, Huntington Disease, DMD) C. Use/Misuse of genetic information Genetic tests Prenatal testing

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slide1

Chapter 3

  • A. Gene function
        • Genes and protein synthesis and mutation
  • B. Genetic diseases
        • Identification of genes
        • Pedigrees/DNA markers
        • Diseases (CF, PKU, Albinism,
          • Huntington Disease, DMD)
  • C. Use/Misuse of genetic information
        • Genetic tests
        • Prenatal testing
        • PCR (polymnerase chain reaction)
        • Eugenics (positive/negative)
slide2

Chapter 4

  • Genetic engineering

Restriction enzymes/plasmids

Genetically engineered insulin

Gene therapy

  • Use of Genetic information
  • Human Genome

Genomics/Bioinformatics

slide3

Chapter 4

  • Genetic engineering

Restriction enzymes

        • Used to cut DNA at special sequences
        • e.g EcoR1 cuts at ---GAATTC---
        • ---CTTAAG---
        • palindrome -race car-
slide4

Chapter 4

  • Genetic engineering

Restriction enzymes

        • Used to cut DNA at special sequences
        • e.g EcoR1 cuts at ---GAATTC---
        • ---CTTAAG---
        • palindrome -race car-
slide5

Chapter 4

  • Genetic engineering

Restriction enzymes

        • Used to cut DNA at special sequences
        • e.g EcoR1 cuts at ---GAATTC---
        • ---CTTAAG---
        • palindrome -race car-
slide6

Chapter 4

  • Genetic engineering

Restriction enzymes

        • Used to cut DNA at special sequences
        • e.g EcoR1 cuts at ---GAATTC---
        • ---CTTAAG---
        • palindrome -race car-
slide8

fig. 4-2

Plasmid circular piece of non-chromosomal DNA

slide11

Gene Therapy

Put good gene into someone who doesn’t have it

SCIDS

bubble babies

slide13

Gene Therapy:

      • Is it possible?
      • Is it right (ethical)?
slide17

Chapter 4

  • Genetic engineering

Restriction enzymes/plasmids

Genetically engineered insulin

Gene therapy

  • Use of Genetic information
  • Human Genome

Genomics/Bioinformatics

slide18

Sequencing DNA

          • if interested…see fig 4.7
slide20

Genome

complete genetic material of an organism

Human Genome project:

Proposed in 1986

Funded in 1989

Preliminary report in 2001 (94%)

Completed in 2003

slide21

Genome results

  • 95% of human DNA is non-coding (not genes)
  • Fewer genes found than expected (35,000)
  • Many genes have unknown
  • Only 1% of our genes are unique

(similar to 46% of genes in yeast)

  • 200 genes like bacteria
  • mutation rates differ in different parts of genome
  • Many sites (15) for variability

(each individual is genetically unique)

23 =

23 = 8

223 = 8,388,608

223 =

2n

slide22

study of the genome

Genomics

e.g., identify individual genes

information generated is called bioinformatics

uses molecular biology and computer science

  • 95% of human DNA is non-coding
  • introns (non-coding) and exons (coding)
        • see figs 4.9 and 4.10
slide23

comparative and functional

Genomics

  • similarities and relationships
  • simple vs. complex
  • gene families
  • gene functions
    • ……

study the protein content of an organism

Proteomics

Normal function

Disease processes

Repair/drug interaction…..

slide24

Chapter 1

  • A. Properties of living things
        • list them and relate them to further materials
  • B. Scientific Method
      • subject matter and limitations
        • inductive vs. deductive reasoning
      • (specific to general) (general to specific; if…then)
      • Hypothesis: must be testable (falsifiable)
      • Experiments/observations test hypothesis
          • must be reproducible
          • must have appropriate controls
slide25
B. Scientific Method (cont)

Ethics:

deontological: written code, individual rights

emphasis on actions

(right vs wrong)

utilitarian: greatest good for most

emphasis onconsequences

genes chromosomes and dna

0

Genes, Chromosomes and DNA

Mendel and Peas

simple inheritance patterns

phenotype/genotype, dominant recessive

heterozygous/homozygous, Mendels “laws”

B. Chromosomal Basis of Inheritance

Chromosomes

Cell division: mitosis and meiosis

Gene linkage, crossing over, nondisjunction

Molecular basis of Inheritance

DNA structure and replication

slide27

Chapter 3

  • A. Gene function
        • Genes and protein synthesis and mutation
        • (diagram)
  • B. Genetic diseases
        • Identification of genes
        • Pedigrees/DNA markers
        • Diseases (PKU, Albinism, CF,
          • Huntington Disease, DMD)
  • C. Use/Misuse of genetic information
        • Genetic tests
        • Prenatal testing
        • PCR (polymnerase chain reaction)
        • Eugenics (positive/negative)
slide28

How proteins are made (protein synthesis):

tRNA

RNA Polymerase ribosomes (protein, rRNA)

DNA mRNA protein

4 "letters” 4 "letters” 20 "letters"

transcriptiontranslation

(in nucleus) (in cytoplasm)

slide29

Chapter 4

  • Genetic engineering

Restriction enzymes/plasmids

Genetically engineered insulin

Gene therapy

  • Use of Genetic information
  • Human Genome

Genomics/Bioinformatics