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Genetics Factoids. Human Genome: 3,000,000,000 base pair

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Genetics Factoids. Human Genome: 3,000,000,000 base pairs (200 vol. of a 1,000 p. telephone book) ... entire sequence of a human chromosome for the first time ... – PowerPoint PPT presentation

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Title: Genetics Factoids. Human Genome: 3,000,000,000 base pair


1

2
Catch the Wave!
3
Developments in Genetics
  • Steve Meixel, MD
  • Department of Family Medicine OU-Tulsa

4
Genetics in Primary Care (GPC)A Faculty
Development Initiative
  • The GPC is a 3 year contract funded by
  • Maternal and Child Health Bureau
  • Bureau of Health Professions
  • H.R.S.A.
  • Co-funded by the
  • Natl Human Genome Proj. Research Institute
  • Agency for Healthcare Research and Quality
  • N.I.H.

5
Our lives are being approached by waves of new
genetic information and technology.
6
These waves are getting bigger and making more of
an impact on our lives. Just consider the rapid
developments in genetics over its brief history
7
Genetics History
  • 2000 Draft of Entire Human
    Genome
  • 1999 1st Human Chromosome(22)
    sequenced (OU helped)
  • Drug Firms Consortium
  • 1997 Dolly (a sheep) cloned
  • 1995 1st Non-viral Genome sequenced
    (H. Flu.)
  • 1990 Human Genome Project
    begins
  • 1974 Restriction Enzymes cut up DNA to
    sequence genes
  • 1953 Watson and Crick define
    structure for DNA
  • 1902 Garrod Alkaptonuria
    (1st case of recessive inheritance)
    Inborn error of metabolism as a cause of
    disease
  • 1865 Mendel describes laws of genetics (from pea
    plants)

8
The Genetic Wave is continually building.
Consider these facts, developments, and comments
9
Genetics Factoids
  • Human Genome 3,000,000,000 base pairs (200 vol.
    of a 1,000 p. telephone book)
  • 80,000 Genes 1,000-500,000 bases/gene
  • 1665 Disease Genes found (so far) e.g.familial
    breast and colon cancer, Alzheimers disease,
    hemochromatosis, neurofibromatosis..

10
An Analogy
  • GENOME LIBRARY
  • CHROMOSOME BOOK
  • BAND CHAPTER
  • GENE SENTENCE
  • BASE PAIR LETTER

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12
Genetics Factoids
  • Human Genome 3,000,000,000 base pairs (200 vol.
    of a 1,000 p. telephone book)
  • 80,000 Genes 1,000-500,000 bases/gene
  • 1665 Disease Genes found (so far) e.g.familial
    breast and colon cancer, Alzheimers disease,
    hemochromatosis, neurofibromatosis..

13
Gene vs. Chromosome
  • There are thousands of genes on Each chromosome.
  • Each gene has a different function.
  • There is no one theme for each chromosome.

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15
Karyotype- normal male
16
Chromosome 22
  • 1st chromosome to be decoded (12/99)
  • 33,000,000 base pairs (gt900 genes)
  • Involved with Immune system, cancer, mental
    retardation, heart disease.
  • To see the entire sequence of a human chromosome
    for the first time is like seeing an ocean liner
    emerge out of the fog, when all youve seen
    before were rowboats.
  • F. Collins (Dir. Of National Human
    Genome Research Institute of NIH)

17
Biotechnology
  • The manipulation of biologic matter, such as DNA,
    for commercial uses.
  • We are only on the threshold of discovery, at
    about the same stage that computer technology
    developers were in the 1950s. But the potential
    of biotechnology is almost unimaginable. R
    ichard W. Oliver

18
Biotechnology Projects
  • Bacteria that gobble up pollutants.
  • Soil microorganisms that make a biodegradable
    plastic.
  • Biosilk
  • genetically altered spider web
  • strongest fiber known (gt steel)
  • Glue from barnacles (worlds strongest adhesive).
  • Industrial Tree grows 100 ft in one year.

19
Biotechnology
20
As the waves of genetics grow their impact on our
lives gets larger. For example
21
National Plant Genome Project
  • Crops resistant to -disease -insects
    -drought
  • Improve harvest yields
  • Extend growing season
  • Pesticide free foods

22
Medical Applications
  • Cloning of organs
  • Gene therapy
  • Replace defective gene with normal ones
  • Add a gene that suppresses tumor growth
  • No more misattributed paternity or mistaken
    identity
  • Know risk for disease (alter lifestyle)

23
Case 1
  • Caroline 20 year old who just found out she is
    pregnant. The man she suspects is the father was
    killed in an automobile accident. He was cremated
    at the request of his parents. He had social
    security benefits which may be used to support
    this child if paternity is confirmed.

24
Case 1
  • Is it possible to establish paternity in this
    case without any sample from the father?
  • YesFamily studies

25

Parentage testing reconstruction of a deceased
alleged fathers DNA profile by testing his
parents
S size GF alleged fathers father GM
alleged fathers mother C child M mother R
control DNA X mixed DNA, child with GF, child
with GM
Paternal contribution
Maternal contribution
S GF X C X GM M R
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SNPs Single Nucleotide Polymorphisms
  • Minute variations that determine how one persons
    DNA differs from anothers
  • 3,000,000 SNPs in human genome
  • Help identify predisposition to disease
  • Help identify response to drugs

28
Pharmacogenomics
  • How a persons genetic inheritance affects the
    bodys response to drugs.
  • E.g. Iceland Study test individual genetic
    profiles against panels of drugs
  • Choose drug with greatest benefit
  • Avoid side effects -
  • No trial-and-error

29
As our knowledge of genetics grows so does its
effect on our lives. But is the use of this
knowledge all good?
30
Ethical, Legal and Social Implications
  • Genetic facts and risks about a patient extend to
    family members.
  • Insurance coverage could be jeopardized.
  • Employers may want genetic information before
    hiring.

31
Stem Cell Research
  • Kerry rips Bush on stem cell order.
  • Tulsa World 8/8/04
  • Maddoxs Milestone
  • Cubs pitcher registers 300th win.

32
  • Our bodies are made of more than 200 cell types.
    But a skin cell cannot become a liver cell.
  • Stem cells are the blank slate cells of the body.
    They have the ability to divide become any of
    the 200 different types of cells.

33
  • The fertilized egg (zygote) repeatedly divides,
    and in about 5 days, there is a hollow ball of
    cells called a blastocyst.
  • The blastocyst is smaller than a grain of sand
    contains 2 different types of cells, the
    trophoblast an inner mass of cells which are
    the embryonic stem cells.

34
  • Embryonic stem cells are in the developing embryo
    for just a couple of weeks after fertilization.
    Scientists have been able to isolate these cells
    keep them growing in the lab.
  • Embryonic stem cells can divide indefinitely.
    Scientists are just learning how to control the
    cells into becoming specific types of cells like
    nerve cells or heart muscle cells.

35
  • Adult stem cells are descendents of embryonic
    stem cells, different types have been found in
    different tissues, such as skin, fat, breast,
    blood, lung and brain. These types of stem cells
    stay in the body for decades.
  • The blood stem cells can divide make more blood
    stem cells as well as the different types of
    blood cells like red, white and platelets.
    Recently scientists found that some adult stem
    cells may form other tissue types.

36
  • Stem cells have lots of possibilities.
  • If we learn how to change stem cells into healthy
    heart muscles cells, can they be used to treat
    some types of heart diseases?

37
  • On Aug. 9, 2001, President Bush decided that
    federal funds can be used to support stem cell
    research. However, it is limited to work on the
    approximately 60 cell lines that were developed
    before the announcement.
  • Currently there is much debate about the limits
    this announcement places on research in the U.S.

38
The Genetic Wave is building. We can let it
pass us by, be overwhelmed by it, or benefit from
its energy like a surfer.
39
Lets go surfing!
40
http//www.tulsa.ouhsc.edu/genetics/homepage.htm
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The end(or should I sayThe beginning?) Tha
nk you !
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47
  • Given the right environment, embryonic stem cells
    can become any one of many different types of
    tissue. Recently Dr. George Daley his team of
    researchers at the Whitehead Institute found a
    way to transform those cells into egg-like cells.
  • Using genetic engineering, Dr. Daleys team
    caused embryonic stem cells from mice to grow
    into structures that resembled early embryos. In
    these structures, the researchers found
    isolated the egg sperm cells that combine to
    create embryos.
  • The team them allowed the egg cells to grow
    develop into cells that resembled natural egg
    cells. The next step for the researchers involves
    experiments to determine whether the egg-like
    cells have exactly the same biological properties
    as natural produced egg cells.

48
  • A fertilized egg cell is immortal in other
    words, it can give rise to countless generations.
    Therefore, the Daley teams technology could
    provide an endless supply of cells tissues.
  • -Dec. 2003.
  • The following (all text) is by
    http//www.mos.org/cstarticle/2479/6.html

49
SCREEN for Familial Disease (The PPV of this set
of questions is not known)
  • SCSome Concerns Do you have Some (any)
    Concerns about diseases or conditions that seem
    to run in the family?
  • RReproduction Have there been any problems
    with pregnancy, infertility or birth defects in
    your family?
  • EEarly Disease, Death or Disability Have any
    members of your family died or become sick at an
    early age? or has there been any early death,
    disease or disablility in your family?
  • EEthnicity Certain diseases that run in
    families are more common in certain ethnic
    groupsHow would you describe your ethnicity, or
    Where were your grandparents born?
  • NNon-Genetic Are there any other risk factors
    or non-medical conditions that run in your
    family?

50
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