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DNA
DNA
Terms:
Chromosome – thread-like
structure made mostly of DNA
Gene – a segment of DNA that
controls protein production
DNA – deoxyribonucleic acid;
material that contains genetic
information; provides instructions
for making protein
DNA
DNA
Every trait (or characteristic) in your body comes from
instructions from your mother and father
Father Mother
DNA
Genes
Segments of DNA that
code for specific traits
The instructions are coded in the DNA as genes. Genes
are located in chromosomes.
Gene for height
For example…
Gene for eye-color
This is not an accurate example. It’s just used to illustrate a point.
DNA
Father Mother
Chromosomes and their genes are passed to the offspring
(children) through sperm and egg cells (gametes)
Sperm cells
23 chromosomes
Egg cells
23 chromosomes
DNA
Father Mother
Chromosomes and their genes are passed to the offspring
(children) through sperm and egg cells (gametes)
DNA
Father Mother
9 months later…
The offspring is born
DNA
Half of the offspring’s chromosomes are from mommy, and
half are from daddy
Father Mother
Hence humans have a total of 46 chromosomes
DNA
Different species have different numbers of chromosomes
DNA
Central dogma
DNA –(transcription)-> RNA –(translation)-> protein
DNA
Central dogma
DNA –(transcription)-> RNA –(translation)-> protein
Every 3 nucleotide
bases code for 1
specific amino acid
(codon)
DNA
Proteins fold
into complex
structures
Proteins can become
enzymes which catalyze
essential chemical
reactions
DNA
DNA screening – process of testing individuals for
gene(s) associated with particular genetic disorders.
To test fetuses, cells from the amniotic fluid are extracted
by amniocentesis, and the DNA is examined.
DNA SCREENING
Human genetic disorders
Progeria
Physical Effects:
-Premature aging, prematurely
old
-Few exceed 13 years old
-90% die from complications
from atherosclerosis
DNA SCREENING
Huntington disease
Physical Effects:
-Progressive brain disorder
causing uncontrolled
movements and loss of
cognition
-May live for 15-20 years after
onset of symptoms
-Trouble eating, swallowing,
talking, etc.
Human genetic disorders
DNA SCREENING
Tay Sachs Disease
Physical Effects:
-Nerve cells destroyed in brain
and spinal cord
-Symptoms appear 3-6 months
after birth
-Loss of motor control and
atrophy of muscles, seizures
-Death
Human genetic disorders
DNA SCREENING
Phenylkentonuria (PKU)
Physical Effects:
-Permanent intellectual
disability, seizures
-Symptoms appear a few
months after birth
-May have a “musty” odour
Human genetic disorders
DNA SCREENING
Albinism
Physical Effects:
-Lack of melanin in skin, hair,
and/or eyes
-May have vision problems
-Sensitivity to UV light
Human genetic disorders
DNA SCREENING
Familial
hypercholesterolemia
(FH)
Physical Effects:
-Very high levels of cholesterol
in blood
-Buildup of excess cholesterol
in various bodily tissues
-High risk of atherosclerosis
Human genetic disorders
DNA SCREENING
Sickle cell anemia
Physical Effects:
-Shortness of breath, fatigue,
delayed growth and
development in children
-May experience painful
episodes of anemia resulting in
organ damage
Human genetic disorders
DNA SCREENING
Colour blindness
Physical Effects:
-Inability to perceive various
colours
Human genetic disorders
DNA SCREENING
Colour blindness test:
DNA SCREENING
Colour blindness test
Colour blindness test:
Hemophilia A
Physical Effects:
-Excessive bleeding from minor
cuts
-Extensive bruises
Human genetic disorders
DNA SCREENING
Duchenne muscular
dystrophy
Physical Effects:
-Muscle weakness, delayed
motor development in children
-Wheelchair dependence by
adolescence
-Enlargement and weakening
of the heart
Human genetic disorders
DNA SCREENING
Down syndrome
Physical Effects:
-Broad flat face, slanting eyes,
short, growth failure, mental
disabilities, congenital heart disease
-An extra chromosome #21 is
present, totaling 47 chromosomes
Human genetic disorders
DNA SCREENING
Cloning – process of creating identical genetic copies of
an organism
DNA SCREENING
Plant cloning can be done by extracting cells from the root
and growing them in a nutrient solution
DNA SCREENING
Genes can also be added to other organisms.
Transgenic organism – organism whose genetic
information has been altered with the insertion of genes
from another species.
DNA SCREENING
i.e. Transgenic mice: Genes can be inserted into mice so
that they can be studied (i.e. gene for obesity).
DNA SCREENING
i.e. Recombinant bacteria: Genes can be inserted into
bacteria so that they can produce chemicals/drugs (i.e.
producing insulin)
DNA SCREENING
Condition Final # of
chromosomes
Affected
chromosome
Characteristic
Turner’s
syndrome
45 X chromosome
(sex
chromosome)
Short, facial hair, undeveloped
breast, degenerate ovaries,
infertile.
DNA SCREENING
Condition Final # of
chromosomes
Affected
chromosome
Characteristic
Klinefelter’s
syndrome
47 or more X chromosome Tall, longer limbs, poor beard
growth, feminized physique,
loose chest hairs, underdeveloped
penis and testes, infertile
DNA SCREENING
Condition Final # of
chromosomes
Affected
chromosome
Characteristic
Jacob’s
syndrome
47 or more Y chromosome Normal male, tall, “aggressive”
(often unnoticed, 1/1000 males)
DNA SCREENING
Condition Final # of
chromosomes
Affected
chromosome
Characteristic
Super
female
47 or more X chromosome Normal female, “aggressive”,
taller, delayed motor skills, often
unnoticed, 1/1000 females
DNA SCREENING

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02 dna

  • 1. DNA
  • 2. DNA
  • 3. Terms: Chromosome – thread-like structure made mostly of DNA Gene – a segment of DNA that controls protein production DNA – deoxyribonucleic acid; material that contains genetic information; provides instructions for making protein DNA
  • 4. DNA
  • 5. Every trait (or characteristic) in your body comes from instructions from your mother and father Father Mother DNA
  • 6. Genes Segments of DNA that code for specific traits The instructions are coded in the DNA as genes. Genes are located in chromosomes. Gene for height For example… Gene for eye-color This is not an accurate example. It’s just used to illustrate a point. DNA
  • 7. Father Mother Chromosomes and their genes are passed to the offspring (children) through sperm and egg cells (gametes) Sperm cells 23 chromosomes Egg cells 23 chromosomes DNA
  • 8. Father Mother Chromosomes and their genes are passed to the offspring (children) through sperm and egg cells (gametes) DNA
  • 9. Father Mother 9 months later… The offspring is born DNA
  • 10. Half of the offspring’s chromosomes are from mommy, and half are from daddy Father Mother Hence humans have a total of 46 chromosomes DNA
  • 11. Different species have different numbers of chromosomes DNA
  • 12. Central dogma DNA –(transcription)-> RNA –(translation)-> protein DNA
  • 13. Central dogma DNA –(transcription)-> RNA –(translation)-> protein Every 3 nucleotide bases code for 1 specific amino acid (codon) DNA
  • 14. Proteins fold into complex structures Proteins can become enzymes which catalyze essential chemical reactions DNA
  • 15. DNA screening – process of testing individuals for gene(s) associated with particular genetic disorders. To test fetuses, cells from the amniotic fluid are extracted by amniocentesis, and the DNA is examined. DNA SCREENING
  • 16. Human genetic disorders Progeria Physical Effects: -Premature aging, prematurely old -Few exceed 13 years old -90% die from complications from atherosclerosis DNA SCREENING
  • 17. Huntington disease Physical Effects: -Progressive brain disorder causing uncontrolled movements and loss of cognition -May live for 15-20 years after onset of symptoms -Trouble eating, swallowing, talking, etc. Human genetic disorders DNA SCREENING
  • 18. Tay Sachs Disease Physical Effects: -Nerve cells destroyed in brain and spinal cord -Symptoms appear 3-6 months after birth -Loss of motor control and atrophy of muscles, seizures -Death Human genetic disorders DNA SCREENING
  • 19. Phenylkentonuria (PKU) Physical Effects: -Permanent intellectual disability, seizures -Symptoms appear a few months after birth -May have a “musty” odour Human genetic disorders DNA SCREENING
  • 20. Albinism Physical Effects: -Lack of melanin in skin, hair, and/or eyes -May have vision problems -Sensitivity to UV light Human genetic disorders DNA SCREENING
  • 21. Familial hypercholesterolemia (FH) Physical Effects: -Very high levels of cholesterol in blood -Buildup of excess cholesterol in various bodily tissues -High risk of atherosclerosis Human genetic disorders DNA SCREENING
  • 22. Sickle cell anemia Physical Effects: -Shortness of breath, fatigue, delayed growth and development in children -May experience painful episodes of anemia resulting in organ damage Human genetic disorders DNA SCREENING
  • 23. Colour blindness Physical Effects: -Inability to perceive various colours Human genetic disorders DNA SCREENING
  • 27. Hemophilia A Physical Effects: -Excessive bleeding from minor cuts -Extensive bruises Human genetic disorders DNA SCREENING
  • 28. Duchenne muscular dystrophy Physical Effects: -Muscle weakness, delayed motor development in children -Wheelchair dependence by adolescence -Enlargement and weakening of the heart Human genetic disorders DNA SCREENING
  • 29. Down syndrome Physical Effects: -Broad flat face, slanting eyes, short, growth failure, mental disabilities, congenital heart disease -An extra chromosome #21 is present, totaling 47 chromosomes Human genetic disorders DNA SCREENING
  • 30. Cloning – process of creating identical genetic copies of an organism DNA SCREENING
  • 31. Plant cloning can be done by extracting cells from the root and growing them in a nutrient solution DNA SCREENING
  • 32. Genes can also be added to other organisms. Transgenic organism – organism whose genetic information has been altered with the insertion of genes from another species. DNA SCREENING
  • 33. i.e. Transgenic mice: Genes can be inserted into mice so that they can be studied (i.e. gene for obesity). DNA SCREENING
  • 34. i.e. Recombinant bacteria: Genes can be inserted into bacteria so that they can produce chemicals/drugs (i.e. producing insulin) DNA SCREENING
  • 35. Condition Final # of chromosomes Affected chromosome Characteristic Turner’s syndrome 45 X chromosome (sex chromosome) Short, facial hair, undeveloped breast, degenerate ovaries, infertile. DNA SCREENING
  • 36. Condition Final # of chromosomes Affected chromosome Characteristic Klinefelter’s syndrome 47 or more X chromosome Tall, longer limbs, poor beard growth, feminized physique, loose chest hairs, underdeveloped penis and testes, infertile DNA SCREENING
  • 37. Condition Final # of chromosomes Affected chromosome Characteristic Jacob’s syndrome 47 or more Y chromosome Normal male, tall, “aggressive” (often unnoticed, 1/1000 males) DNA SCREENING
  • 38. Condition Final # of chromosomes Affected chromosome Characteristic Super female 47 or more X chromosome Normal female, “aggressive”, taller, delayed motor skills, often unnoticed, 1/1000 females DNA SCREENING

Editor's Notes

  1. Fake colour-blind test