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Human Heredity and Biotechnology Chapter 11.1

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Human Heredity and Biotechnology Chapter 11.1 & 11.3 with a scattering from Chapter 13 – PowerPoint PPT presentation

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Title: Human Heredity and Biotechnology Chapter 11.1


1
Human Heredity and Biotechnology Chapter 11.1
11.3 with a scattering from Chapter 13
2
Recessive Genetic Disorders
  • Began with the study of alkaptonuria
  • Passed like any recessive trait
  • Heterozygous condition results in carriers
  • Disorder Table cystic fibrosis albinism
  • Disorder Table galactosemia Tay Sachs

3
Dominant Genetic Disorders
  • Only need one dominant allele to inherit the
    disease
  • No carriers
  • Disorder Table Huntingtons Disease
    Achondroplasia

4
PEDIGREE
  • chart which shows the
  • inheritance of a trait
  • from one generation
  • to the next
  • Allows geneticists to trace the transmission of a
    trait through a family.
  • square male
  • circle female
  • colored shape has trait
  • half colored shape carrier
  • slash deceased

5
Alexandrina Victoria, born May 1819 British
Monarch
  • Queen Victoria was a carrier of hemophilia.
  • She had nine children and passed hemophilia on to
    several of them.
  • All of her children married into the royal
    families of various countries of Europe.
  • In this way, all of the Royal Families of Europe
    inherited the gene for hemophilia.

6
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7
How many generations are represented? How many
males? afflicted males? normal males? How many
females? afflicted females? normal females? Any
carriers? Sex-linked or autosomal trait? Dominant
or recessive trait? Any twins? deceased
individuals?
8
HUMAN CHROMOSOMES
  • Humans contain.
  • 46 individual chromosomes
  • 23 chromosome pairs
  • SEX CHROMOSOMES (1 pair)
  • determine the sex
  • of an individual
  • AUTOSOMES (22 pairs)
  • do not determine the sex
  • of an individual

9
KARYOTYPE
  • is a photomicrograph
  • of the chromosomes
  • in a dividing cell
  • chromosomes are grouped
  • and placed into pairs
  • female - 46 XX
  • male - 46 XY

10
Telomeres protective caps on ends on
chromosomes made of protein and DNA may play a
role in cancer and aging
11
Mutations
  • Caused by mutagens (anything that may cause a
    mutation)
  • Virus, chemicals, toxins, UV light, etc.
  • 3 types
  • Somatic cell mutations affect body cells
  • will affect individual, but not offspring
  • Germ cell mutations affect germ cells
  • Will affect offspring, but not the individual
  • Lethal mutations
  • Will cause death either before or shortly after
    birth

12
Chromosome Mutations
  • Deletion
  • A piece of a chromosome is lost
  • Inversion
  • A piece of a chromosome breaks off, flips over,
    and reattaches
  • Translocation
  • A piece of a chromosome breaks off and reattaches
    to another chromosome
  • Nondisjunction
  • Homologues do not separate

13
Deletion
14
Inversion
15
Translocation
16
NONDISJUNCTION
  • may arise when chromosomes dont separate
  • properly during meiosis, this is called
  • not coming
    apart

17
Nondisjunction
  • Leads to either monosomy (45) or trisomy (47) in
    a cell
  • Trisomy on 21 Downs Syndrome
  • Trisomy on sex chromosomes (23) can lead to XXY
    (Klinefelters syndrome) or XYY
  • Monosomy on sex chromosomes (23) can lead to XO
    (Turners Syndrome)

18
DOWN SYNDROME (also called trisomy 21)
  • male or female having an extra chromosome in pair
    21
  • (instead of 2 chromosomes in pair there are 3)

  • 47 XX or 47 XY

19
Nondisjunction on 21 Trisomy 21 (Down
Syndrome)
20
TURNER SYNDROME
  • female that is missing a sex chromosome
    - 45 XO

21
KLINEFELTER SYNDROME
  • male having an extra sex chromosome
  • 47 XXY or 48 XXXY

22
Which mutations are shown?
23
Fetal Testing
  • Genetic testing for couples with family history
    of genetic diseases
  • pre-pregnancy DNA testing genetic counseling
  • post-pregnancy PKU testing
  • during pregnancy
  • Amniocentesis
  • Chorionic villi sampling
  • Fetal blood sampling

24
HUMAN GENOME PROJECT
  • Began in 1990 -
  • an attempt to sequence
  • all of the human DNA.
  • Genome an organisms DNA
  • Mapping of the human
  • genome completed in 2003.

25
GENE THERAPY
  • process in which an absent or faulty gene is
    replaced by a normal, working gene
  • various approaches have been taken
  • Bone marrow removed, modified in the laboratory
    and placed back in the body
  • Modified viruses have been used to carry
    replacement genes into the body
  • Inhalation of genetically engineered viruses
    containing good genes has been attempted
  • up to this point, gene therapy has not been very
    successful

26
Manipulating DNA
  • Today, we have expanded our use of genetic
    information and we are able to use techniques for
    manipulating (modifying) DNA.
  • We can.
  • extract DNA from cells,
  • cut it into small pieces,
  • identify the genes and sequences in DNA
  • make copies

27
Cell Transformation.
  • process by which a cell takes in DNA from an
    outside source
  • the external DNA may become part
  • of the cells DNA

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29
  • Recombinant DNA taking DNA from one organism
    and combining it with another organism
  • we have inserted the genes for human insulin and
    human growth hormone into bacteria

30
Transgenic Organism an organism containing genes
from another organism
  • cow containing genes
  • for producing
  • human milk proteins
  • bacterium containing
  • recombinant DNA

31
Cloning
  • process of producing an identical copy of an
    organism
  • we have successfully cloned frogs, salamanders,
    mice, sheep and other organisms

32
DOLLY
33
  • What is genetic engineering?
  • it is simply.
  • genetic modification
  • Throughout the ages,
  • man has applied his knowledge
  • of genetics to the world around him
  • especially to plants and animals.

34
Selective Breeding
  • the process of breeding animals or plants with
    desired characteristics
  • Man has used selective breeding to develop plants
    and animals with desirable traits.
  • Nearly all domestic animals dogs, cats, horses,
    and most crop plants have been produced by
    selective breeding.

35
Selective Breedingof plants
36
Selective Breedingof animals
37
Hybridization
  • crossing dissimilar individuals to bring together
    the best traits of both organisms
  • hybrids (produced by
  • such crosses) are
  • often healthier and
  • hardier than either
  • of the parents

38
Hybridization
ZEDONK cross between a zebra and a donkey
39
Hybridization
LIGER cross between a lion and a tiger
40
Hybridization
male DONKEY and female HORSE
MULE Offspring (mules) are
almost always sterile. The mule has greater
endurance, is stronger and less excitable than a
horse.
41
Inbreedingcontinued breeding of individuals with
similar characteristics - used to maintain
characteristics in a breed
42
Inbreeding
43
  • While selective breeding often limits variation,
    scientists are also interested in preserving the
    genetic diversity in organisms.
  • WHY?
  • Genetic diversity (variation) in a population
  • can be increased by inducing mutations.
  • Mutations may be induced by the
  • use of chemicals and radiation.

44
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