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Genetics
What are the key components of
         chromosomes?
A. DNA
  -heterochromatin
  -euchromatin
B. Proteins
C. Found in nucleus
D. You should
   understand the relationship between
   DNA and proteins (chromatin packing
   and histones)
Key terms
A. Eukaryotic chromosomes-made of DNA
   and proteins (histones)
B. Gene-heritable factor that controls
   specific characteristics
  -made up of a length of DNA, found on a
     specific chromosome location (a locus)
C. Allele-one specific form of a gene (all
   found at the same locus)
   -Example: Everyone has the gene for eye
   color. The possible alleles are
   blue, brown, green, etc.
More Key Terms
D. Genome-total genetic material of an
  organism or species (Example: The
  Human Genome)
E. Gene pool-total of all genes carried by
  individuals in a population
Mutations
A. Chromosome mutations-involve large
   sections of chromosomes (or the whole
   thing)
   -Ex: Down’s syndrome, Turner’s
   syndrome
Mutations
B. Gene mutation-involves changes in single base
  pairs
   -Some mutations may not have any effect on the
     cell and may involve:
      1. part of the sense strand of DNA which is
      not transcribed
      2. part of the DNA that a cell does not use
      3. changes in second or third bases of a
      codon (since the genetic code is degenerate
      the same base may still be coded for)
Mutations
B. Gene mutation-involves changes in single base pairs
   Example: Insertion or deletion of single organic bases
        -changes the DNA sequence that will be transcribed
            and translated

      original DNA sequence: ATG-TCG-AAG-CCC
                  transcribed: UAC-AGC-UUC-GGG
                    translated: tyr-ser-phe-gly

            addition of base A: ATA-GTC-GAA-GCC-C
                   transcribed: UAU-CAG-CUU-CGG
                     translated: thy-glu-leu-arg
Mutations: Base substitutions and
         sickle-cell anemia
A. Hemoglobin-protein that helps RBC carry
   oxygen
B. Hb is a gene that codes for hemoglobin
  -made of 146 amino acids
C. In some cases one base is substituted for
    another
    normal: (HbA)        base substitution: (HbS)
             CTC               CAC
             GAG               GUG
-after transcription and translation HbA produces
    glutamic acid and HbS produces valine
Mutations: base substitutions and
         sickle-cell anemia
D. The altered hemoglobin HbS is crystalline
   at low oxygen levels causing the RBC to
   become sickled and less efficient at
   oxygen transport
E. Symptoms of sickle cell anemia
   -physical weakness
   -heart or/and kidney damage
   -death
Mutations: base substitutions and
           sickle-cell anemia
F. In heterozygous people (one normal allele and one
  sickle cell allele)
  -the alleles are codominant, but the normal allele is
  expressed more strongly
     -in codominance both alleles are expressed (one is
     not dominant to the other)
  -some sickled cells present, but most are normal
  -some people show mild anemia (deficiency of the
  hemoglobin, often accompanied by a reduced
  number of red blood cells and causing paleness,
  weakness, and breathlessness)
Mutations: base substitutions and
           sickle-cell anemia
G. Advantages of being heterozygous
  -In areas where malaria is infested:
      -Plasmodium cannot live in erythrocytes with HbS
      -Heterozygous individuals have a reduced
      chance of contracting the protist that is carried by
      mosquitoes
Karyotyping
A. Karyotyping-process of finding the
   chromosomal characteristics of a cell
  -chromosomes are stained to show banding
     and arranged in pairs according to size and
     structure
                        -You should be able to
                            look at a karyotype
                            and determine the
                            sex of the individual
                            and if non-disjunction
                            has occurred
Amniocentesis and karyotyping
A. Amniocentesis
  -performed at around 16 wks
  -sample of amniotic fluid is taken and cultured
  -when there are enough cells, a karyotype can be
     performed
  -chromosomes are arranged into pairs to detect
     any abnormalities
  -can be used to detect Down’s syndrome (a.k.a.
     trisomy 21)
  -can be used to recognize sex or non-disjunction
Amniocentesis
Karyotyping and Chorionic villus
                sampling
Sampling is performed around 11 weeks of pregnancy
Cells are gathered from chorionic villi (cells from the zygote)
Cells are cultured, DNA is extracted and a karyotype is
  made
A Side by Side Comparison
Meiosis Key Terms
A. Diploid-having two sets of chromosomes
B. Homologous chromosomes-matching
   pairs of chromosomes
     -have the same genes
     -are not identical (one chromosome comes
     from each parent, thus alleles may be
     different)
     -found in diploid cells
C. Haploid-having only one set of
   chromosomes
More Meiosis Terms
D. Chromatids -two parts of a chromosome
E. Centromere -part of a chromosome that
  connects the chromatids
F. Reduction division-in organisms that reproduce
  sexually
  -reduction of the number of chromosomes by
  half (from a diploid nucleus to a haploid nucleus)
  -think of eggs and sperm; both are haploid
  (when they unite the diploid number is restored)
Meiosis
B. Produces gametes (sperm and egg)
C. Overview
  1. homologous chromosomes pair (diploid)
  2. two divisions (meiosis I and meiosis II)
  3. result=4 haploid cells
D. When gametes unite (to produce a diploid cell)
  a cell with homologous pairs is created
      -one set of chromosomes is from the mom
      and one set of chromosome is from the dad
chiasmata
          Meiosis (details)               Tetrad
A. Interphase -DNA replication

B. Prophase I
  -chromosomes condense
  -nucleolus becomes visible
  -spindle formation
  -synapsis-homologous chromosomes are side
     by side (they become a tetrad and are
     intersected at the chiasmata)
  -nuclear membrane begins to disappear
Meiosis (details)
C. Metaphase I: Bivalents move
  to equator
D. Anaphase I:
  -Homologous pairs split
  -One chromosome from each
  pair moves to opposite pole
E. Telophase I:
  -Chromosomes arrive at poles
  -Spindle disappears
Meiosis (details)
F. Prophase II – new spindle is formed at
  right angles to the previous spindle
G. Metaphase II – Chromosomes move to
  equator
H. Anaphase II –
  -Chromosomes separate
  -Chromatids move to opposite poles
Meiosis (details)
I. Telophase II
  -Chromosomes arrive at poles
  -Spindle disappears
  -Nuclear membrane reappears
  -Nucleolus becomes visible
  -Chromosomes become chromatin
  -Cytokinesis
Crossing over of homologous
           chromosomes
A. An important source of variation
    -creates new combinations
B. Happens during prophase I
C. Called a synapsis
D. Recombination-reassortment of genes into
    different combinations from those of the parents




                    Chiasmata formed during a synapsis
Crossover
    H                    E               Start
A                                    A genotype HE
B                                    B genotype HE
C                                    C genotype he
                                     D genotype he
D
    h                    e
                                 H                    E
                         A
           Crossover
        B and C become   B
         recombinants    C
                         D
                                 h                    e
    H                        E           Results
A                                     A genotype HE
B                                     B genotype He
C                                     C genotype hE
                                      D genotype he
D
    h                        e
Meiosis and genetic variation
A. The number of possible gametes
   produced by random orientation of
   chromosomes is 2n (where n is = to the
   haploid number of chromosomes)
B. In humans the production of 1 gamete has
   over 8 million possible combinations (223)
C. Recombination (in prophase I) + Random
   orientation of chromosomes (in
   metaphase I) = an infinite number of
   variations
Meiosis and Non-disjunction
A. Disjunction - when the homologous
   chromosomes separate in anaphase I
B. Aneuploidy -happens when chromosomes
   do not separate (in anaphase I or II)
  -caused by non-disjunction
  -result: one cell missing a chromosome and one
      cell having an extra chromosome
  -Total number of chromosomes = 2n 1
C. Polyploidy- having more than two complete
   sets of chromosomes (common in plants)
Karyotype of non-disjunction
                           Abnormal karyotype (aneuploidy)
Normal karyotype (2n=46)             2n + 1 = 47
Non-disjunction and Down’s
             syndrome
A. One of the parent gametes contains two
   copies of chromosome 21
B. The zygote then ends up with 3 copies
  -2 from one parent
  -1 from the other
C. Down’s syndrome = trisomy 21
D. Chances of non-disjunction of
   chromosomes increases with age in
   females (in males too, but less of an
   effect)
Non-disjunction and Down’s
             syndrome
E. Female age has a greater effect because:
   -gametes are produced before birth
   -more exposure to
   chemicals, radiation, etc.
F. Male age has less effect because they do
   not produce gametes until puberty
G. Genetics may also increase the likelihood
   of having a child with Down’s syndrome
Theoretical Genetics Key Terms
A. Dominant allele-the allele that always shows in
   the heterozygous state (Example: Bb=brown)
B. Recessive allele-the allele that only shows in
   the homozygous recessive state (Example:
   bb=blue)
C. Codominant alleles-pairs of alleles where two
   differing alleles are shown in the phenotype in
   a heterozygote
D. Homozygous -having two identical alleles of a
   gene (Example: BB or bb)
E. Heterozygous -having two different alleles of a
   gene (Example: Bb)
More Vocabulary
F. Carrier- a person who has a recessive
    allele, but does not express it (they are
    generally heterozygous, Bb)
G. Genotype-alleles that a person has
    (the letters) Ex: Bb
H. Phenotype- the physical characteristics
    the a person shows (caused by the
    genotype) Ex: brown hair or blue eyes
I. Test cross- crossing two or more
    genotypes to find the possible genetic
    outcomes
Mendel’s Monohybrid Crosses
A. Punnett square-shows possible outcomes from
   a test cross
B. Mendel studied characteristics of pea plants


                        Wrinkled and round peas
                       (round peas are dominant)
Gregor Mendel’s Findings
                              Dominant    Recessive
              Trait          Expression   Expression


1.     Form of ripe seed      Smooth       Wrinkled

2.   Color of seed albumen     Yellow       Green

3.     Color of seed coat      Grey         White

4.     Form of ripe pods      Inflated    Constricted

5.    Color of unripe pods     Green        Yellow

6.     Position of flowers     Axial       Terminal

7.      Length of stem          Tall        Dwarf
Mendel’s Monohybrid Crosses
C. Mendel found tall is dominant over short
D. His procedures were:
   1. Start with 2 pure breeding homozygous
   plants (This is the P generation.)
      -Plant 1=tall (TT)
      -Plant 2= short (tt)
   2. Cross-breed the plants
      -Place pollen from the tall plant in the short
      plant and vice versa.
Mendel’s Monohybrid Crosses
D. His procedures were:
   3. The F1 generation is the 1st group of
   offspring.
     -All were tall, and had a heterozygous
     genotype. (Tt)
     -This is an application of the law of
     segregation.
     -All offspring had a ‘T’ from one parent
     and a ‘t’ from the other parent
Mendel’s Monohybrid Crosses
D. His procedures were:
   4. The F1 offspring were then crossed. (Tt x Tt)
      -Possible outcomes can be found using a
      Punnett square
      GENOTYPES                   T         t
      -25% TT              T     TT        Tt
      -50% Tt
      -25% tt              t      Tt        tt
      PHENOTYPES
      -75% Tall -25% Short
Multiple alleles
A. When genes have more than two alleles
B. Example: Blood type has 4 phenotypes based
   on three alleles (IA, IB and i)
C. IA and IB are codominant and i is recessive
D. This is why parents can have kids with
   different blood types
      Phenotypes      Genotypes
      A               IAIA or IAi
      B               IBIB or IBi
      AB              IAIB
      O               ii
Multiple alleles
D. Perform a test cross for P: mother with O blood
    type and father with AB blood type. What are
    the possible phenotypes?

       Phenotypes        Genotypes
       A                 IAIA or IAi
       B                 IBIB or IBi
       AB                IAIB
       O                 ii
Multiple alleles
Perform a test cross for P: mother with O blood
  type and father with AB blood type. What are the
  possible phenotypes for F1?
                      P = ii x IAIB
                      i              i
           IA        IA i           IA i

           IB        IB i           IB i

  None of the children can have the same blood type as
                   either of the parents.
Codominance
A. When neither allele for a gene is recessive
B. Example: Blood type
C. Alleles A and B are both dominant (both are
   expressed)
D. i is recessive to alleles A and B
E. One letter is chosen and the possible alleles
   are written in upper case letters to illustrate
   codominance        Phenotypes     Genotypes
                      A              IAIA or IAi
                      B              IBIB or IBi
                      AB             IAIB
                      O              ii
Sex chromosomes and gender
Only possibility for P generation = XX and XY

             X            X         The sex of all babies
                                    is determined by the
  X         XX            XX        chromosomes in the
                                    sperm from the
  Y         XY            XY        man.

-The X chromosome is larger and carries more
    genes than the Y chromosome
   -Examples of genes on X, but not Y = color
      blindness and hemophilia
   -Many sex-linked traits are related to the X
      chromosome.
Sex linkage
A. Genes carried on sex chromosomes
   (usually X)
B. Example: Hemophilia-a blood disorder
   that prevents clotting
  -patients do not produce clotting factors that
     allow coagulation of blood, and thus torn
     blood vessels are prevented from closing
  -most common in boys (they get it from their
     mother’s X chromosome, as they only get
     one X, which means only one chance to get
     the dominant allele)
Sex linkage
C. Two parents without hemophilia:
      XHXh and XHY
                        XH            Xh
               XH      XHXH          XHXh

                Y       XHY          XhY
*The XhXh does is very rare
*Males cannot be heterozygous carriers because they
     only have one X.
*Females can be carriers and pass on the trait to the next
     generation. They can be heterozyg. or homozyg.
* XH -Normal and Xh –Hemophilia
Predict the genotypic and
    phenotypic ratios of monohybrid
    crosses for each of the following.
1. Sickle cell anemia: HbA=normal and HbS=sickle cell
      HbAHbS x HbAHbS
2. Colorblindness: XB=normal and Xb=colorblind
      XBXb x XbY
3. Hemophilia: XH=normal and Xh=hemophilia
      XhXh x XHY
4. Blood type: IAi x IBi
**You should be able to determine if alleles are codominant
   because both alleles will be represented by capital letters.
   You should also know if the inherited traits are sex-linked.
Mendel’s Law of Segregation
A. States: The separation of the pair of
   parental factors, so that one factor is
   present in each gamete. (This is how it is
   written in the IB book.)
B. The two alleles for each characteristic
   segregate during gamete production.
   This means that each gamete will contain
   only one allele for each gene. This allows
   the maternal and paternal alleles to be
   combined in the offspring, ensuring
   variation. (This is from wikipedia.)
Mendel’s Law of Segregation and
             Meiosis
A. Mendel looked at genes (on chromosomes)
B. Found that each gene appeared twice (in
   homologous pairs)
C. Figured out that when a synapsis occurs in
   prophase I followed by a separation in
   anaphase I, homologous chromosomes
   move to opposite poles
D. One chromosome from each pair ends up
   in a gamete
Mendel’s Law of Independent
           Assortment
A. States that allele pairs separate
   independently during the formation of
   gametes
B. Any one pair of characteristics may
   combine with any one of another pair of
   characteristics
C. See p. 163 in Green Book
Independent assortment and
               meiosis
A. Any combination of chromosomes is possible in
   metaphase I (there is no ‘master plan’ for the
   order that they line up on the metaphase plate
   before separation)
B. Mendel thought all genes were inherited
   separately and had no relationship
  -Ex: Pea plants could be green or yellow and wrinkled or
      round. Shape and color had nothing to do with each
      other, because the genes are on separate
      chromosomes. Any combination could have been
      produced
      (wrinkled/green, wrinkled/yellow, round/green, round
      yellow)
C. This is demonstrated in Dihybrid crosses.
D. Today we realize that there are many exceptions
Possible chromosome alignments




 A   Possible random outcomes B
Mendel’s Law of Independent Assortment
A. Any one of a pair of characteristics may combine
    with either one of another pair
B. Example:
    gene=shape of pea
    alleles=round (R) or wrinkled (r)
    gene=color of pea
    alleles = yellow (Y) or green (y)
    *When crossing two plants that are heterozygous
    for both traits the offspring will show all
    combinations. This shows that genes for shape
    and color are independent (unlinked).
Dihybrid crosses
                Parent genotypes: SsYy x SsYy
                 -S=smooth        s=wrinkled
                   -Y=Yellow       y=green

                   SY         Sy         sY     sy
Possible
allele
           SY      SSYY       SSYy       SsYY   SsYy
combos
from one   Sy      SSYy       SSyy       SsYy   Ssyy
parent

           sY      SsYY       SsYy       ssYY   ssYy

           sy      SsYy       Ssyy       ssYy   ssyy
F1 Genotypic ratios
     Possible ratios for                1:SSYY

       SsYy x SsYy                      2:SSYy
                                        1:SSyy
       SY   Sy     sY     sy            2:SsYY
                                        4:SsYy
SY     SSYY SSYy SsYY SsYy              2:Ssyy
                                        1:ssYY
Sy     SSYy SSyy SsYy Ssyy              2:ssYy
                                        1:ssyy

sY     SsYY SsYy ssYY ssYy       F1 Phenotypic ratios
                                   9: smooth-yellow
                                    3:smooth-green
sy     SsYy Ssyy   ssYy   ssyy
                                   3: wrinkled-yellow
                                   1: wrinkled-green
Perform a test cross for
             P: SSYY x ssyy
1. What will the genotype and phenotype ratios be
   for the F1 generation?
2. What will the phenotype and genotype ratios be
   for the F2 generation?
3. Determine the recombinants in each generation.
Perform a test cross for P generation: SSYY x ssyy

              SY        SY        SY        SY
    sy        SsYy      SsYy      SsYy      SsYy

    sy        SsYy      SsYy      SsYy      SsYy

    Sy        SsYy      SsYy      SsYy      SsYy

    Sy        SsYy      SsYy      SsYy      SsYy


All F1 generation offspring are heterozygous (SsYy).
  What will the outcome be if you cross two individuals
  from F2?
Autosomal Gene Linkage
A. Autosome -all chromosomes that are not
   sex chromosomes
B. Sex chromosomes -determine if an
   individual is male or female
C. Linkage group -a group of genes whose
   loci are on the same chromosome
D. Gene linkage is caused by pairs of genes
   being inherited together. The presence or
   absence of one can affect the other.
Autosomal Gene Linkage
A. In gene linkage, all of the genes on a
   chromosome are inherited together
B. Does not apply to Mendel’s law of independent
   assortment
C. The closer the loci of the two genes on the
   chromosome, the smaller the chance that
   crossing over will occur in a chiasmata
D. If no info. is given, assume the genes are not
   linked
Autosomal Gene Linkage
E. These genes do not
  follow the law of            F1 generation
  independent assortment.      PL PL PL PL
F. Example:
                          pl
  P=purple, p=red,
  L=long, l-round         pl
  P gen.=PPLL x ppll
                          pl

                          pl

                                  *all PpLl
Autosomal Gene Linkage
                                      F2 generation
F. Example continued:
   P=purple, p=red,
                                      PL Pl       pL    pL
   L=long,    l-round            PL
   F1 gen.=PpLl x PpLl
                                 Pl
-predicted results would be a
   ratio of 9:3:3:1               pL
-observed results were very
                                  pL
   different than predicted
   because the genes are for
   color and pollen shape are
   linked on the same
   chromosome.                See p. 87 in your review guide.
Gene linkage and Drosophila
A. When genes are linked actual outcomes do
   not match expected outcome
B. This would be evident in a dihybrid cross (a
   cross between two genes)
C. Linked genes are represented in vertical
   pairs with horizontal lines between them
  Example: b+=tan body        b=black body
           w+=long wings      w=short wings
  b+     w+ *The fly is tan and has long wings.

  b+      w+ (genotype b+b+w+w+)
Gene linkage in Drosophila
Recombinants and gene linkage
A. Recombinants are formed as a result of
   crossing over (during prophase I)
B. They are found in combinations that did
   not exist in the parents
Polygenic Inheritance
A. When the inheritance/expression of a
   characteristic is controlled by more than one
   gene
B. Example: Human skin color
   -involves at least 3 independent genes
   -A, B and C represent alleles for dark
   -a, b and c represent alleles for light skin
   -P: AABBCC x aabbcc
   -F1: AaBbCc (all are heterozygous for all alleles)
   -F2:???
Polygenic Inheritance
B. Example: Human skin color
   -F2:???
   -to find out you can make a Punnett
   square
   -The more dominant alleles there are, the
   darker the skin
   -Dominant alleles are codominant (they
   are all expressed)
Polygenic inheritance (Other traits)
A. Height
B. Eye color
C. Finger prints
Polygenic Inheritance
Example: Flower color of beans
   -Genes A and B control color expression
   -AP and BP = purple
   -AW and BW = white
   -Each color has two alleles
   -Purple and white are codominant
   -Because of the codominance the flowers will be
   shaded depending on their genotypes
P: APAPBP BP x AWAWBWBW
     F1: APAWBPBW
        AP BP AP BP AP BP AP BP

 AWBW

 AWBW

 AWBW

 AWBW
F1: APAWBPBW x APAWBPBW
F2: See Punnett square (fill it in)
Determine which ones are white, purple and
intermediates.)
             AP BP AP BW AWBP AWBW

     AP BP

     AP BW

     AWBP

     AWBW
Polygenic inheritance and variation
             patterns
Two patterns are commonly expressed
A. Continuous variation – shows a continuum of
    variation among a population in a bell curve
    format
    - Example: In height expression people can be
    short, medium or tall (and everything in
    between)
B. Discontinuous variation – does not show a
    continuum (it is one or the other, there is no in-
    between expression of phenotype)
    - Example: Blood type can be A, B, AB or O
    (nothing in between)
Pedigree Charts
A. Used to show inheritance of traits over
   several generations
B. Affected individuals-shaded black
C. Unaffected individuals- left blank
D. Heterozygous individuals (carriers)-
   shaded grey or filled in half way
E. Example: Queen Victoria and
   hemophilia (recessive/sex-linked)
PCR
A. PCR=polymerase chain reaction
B. PCR=DNA photocopier
C. Used to make copies of specific DNA
   sequences (for study)
How a PCR works
1. DNA is heated (H bonds are broken)
2. RNA primers are added to start
   replication
3. As the DNA cools primers bind to the
   single strands (H bonds and
   complementary base pairing)
4. Nucleotides and DNA polymerase are
   added
How PCR works
5. Nucleotides bond with ‘exposed’ bases on
    the DNA strand
6. DNA polymerase joins them
7. Complimentary strands are formed
8. New strands can be heated, separated
    and copied
9. Animation
Gel electrophoresis
A. Technique used to separate molecules
   base on their rates of movement in an
   electric field
   -caused by charge and size of molecules
B. Commonly used in DNA profiling
Gel electrophoresis and DNA
               profiling
A. Scientists cut a mixture of DNA into segments
   by restriction enzymes
B. Place into a special gel with a current running
   through it
C. DNA separates into bands according to size
D. Mixture is compared to a control group
E. The more similar the DNA strands are the
   more closely they are related
F. See p. 30 in review guide or p. 66 in IB
   textbook for examples
Figure 3.
 Comparison of known gel results for normal
hemoglobin (AA), sickle cell disease (SS) and
    sickle cell trait (AS). S represents the
   molecular size marker. What results are
 present in the lanes marked with a question
                       mark?
Application of DNA profiling
A. Criminal investigations
    -collect blood or semen from suspect
    -if enough is not present use PCR
    -compare gel electrophoresis of suspect
    and victim
B. Indentify remains of deceased
    -take blood samples of living
    -compare with samples from dead
C. Paternal tests
Genetic screening
A. Test individuals in a population for
   presence of absence of a gene or allele
Genetic Screening
B. Advantages:
  1. pre-natal diagnostics (seek treatment or
     abortion) Ex: PKU or down’s syndrome
  2. Reduce frequency of alleles that cause
     genetic illnesses (opt to not reproduce or
     use IVF and select embyros without genetic
     defect)
  3. Genetic diseases that show symptoms in
     later life can be detected earlier (Ex:
     Huntington’s disease)
Genetic Screening
C. Disadvantages:
   1. Increased abortion rate
   2. Harmful psychological effects
     -could lead to discrimination (when
     seeking insurance or medical assistance)
     -fear of getting older (depression)
     -creates a genetic ‘underclass’
Human Genome Project
A. An international cooperative venture
   established to sequence the complete
   human genome
B. Hope to determine the location and
   structure of all genes in the human
   chromosomes
C. Genome-total genetic material of a cell
D. Completed in 2000 (about 10 years
   early)
Advantages of the Human Genome
             Project
A. Understand genetic diseases
B. Figure out if any of them can be
   prevented though screening
  -could also be negative (in terms of
     insurance or employers)
C. May lead to development of
   pharmaceuticals
D. Insight into evolution and migration
   patterns
Genetic Modification
A. Deliberate manipulation of genetic
   material
B. Genetic code is universal
  -it can be transferred between organisms
       because the bases are the same
C. Used to create new combinations of DNA
D. Mutation and recombination occur
   naturally (often are disadvantageous and
   do not remain in the population)
Genetic Modification
E. Genetic engineers direct the process of
   recombination
   -increase chances of favorable
   combinations
Technique for gene transfer
    Example-insulin production
A. Must have a vector (bacteriophage), a host
   (bacteria), restriction enzymes and DNA
   ligase
B. Plasmids (small circular DNA from bacteria)
   are cut using restriction enzymes
C. Sticky ends are created by adding C
   nucleotides
Technique for gene transfer
    Example-insulin production
D. mRNA that codes for insulin is extracted
    from the pancreas
E. Reverse transcriptase makes DNA from
    the mRNA
F. Sticky ends are creating by adding G
    nucleotides
G. Insulin gene and plamsid are mixed
H. They join together at the sticky ends (C
    pairs with G)
Technique for gene transfer
     Example-insulin production
I. Plasmid with the human insulin gene is
      called a recombinant
J. Host cell (usually E. coli) receives the gene
K. E. coli are cultured w/ new gene
L. Insulin produced by modified E. coli is
      extracted and eventually given to
      diabetics
Other examples of genetic
             modification
A. Insulin production in E. coli (discussed
   above)
B. Bacteria can be modified to produce
   growth hormone for cows
   -cows injected with hormone increase
   milk production by 10-20%
C. Breeding of plants to increase disease
   resistance
D. Dog breeding
Benefits of genetic modification
A. Less disease (possibly)
  -long term effects are unknown
B. More product
   -Ex: milk
C. Some are beneficial with no know side
   effects
   -Ex: Insulin production
Negative aspects of genetic
             modification
A. Introducing plasmids
   -hospitals fear them
   -can carry genes for antibiotic resistance
   -can be passed from one species to another
B. Don’t know long term effects (Example)
    -effects of using growth hormone in cows is unknown
    (some could be in our food)
    -cows needs extra antibiotics to stay healthy (we get
    these too)
C. Could create super bacteria
D. Less than perfect becomes unacceptable (if anyone can
    be genetically modified before birth)
Gene therapy
A. Treatment of genetic illness by
   modification of genotype, or base
   sequence, or allele (dominant for
   recessive)
B. Best if done with stem cells
C. Many attempts have not been successful
D. Read SCID example on p. 28
Cloning
A. Clone-group of individuals identical in
   genotype or a group of cells descended
   from a single parent cell
How Dolly was made
1. Udder cells removed from sheep 1
    a. cells grown in a culture to turn off their genes
2. Embryos removed from sheep 2
   a. Nuclei removed from embryos
3. Embryos and udder cells fused by electricity to
    form zygotes
4. Zygotes developed to embryos
5. Embryos implanted into Sheep 3 (the surrogate
    mother)
6. Dolly develops and becomes first born clone
    a. Identical to sheep 1
Ethical issues of cloning in humans
A. Possible to only clone a specific organ?
B. Does the whole person need to be
   cloned for organ donation?
  -if we take the heart, what do we do with the
       rest of the body
C. Read p. 32 in the review guide for
   arguments for and against therapeutic
   cloning of humans.

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Genetics ib

  • 2. What are the key components of chromosomes? A. DNA -heterochromatin -euchromatin B. Proteins C. Found in nucleus D. You should understand the relationship between DNA and proteins (chromatin packing and histones)
  • 3. Key terms A. Eukaryotic chromosomes-made of DNA and proteins (histones) B. Gene-heritable factor that controls specific characteristics -made up of a length of DNA, found on a specific chromosome location (a locus) C. Allele-one specific form of a gene (all found at the same locus) -Example: Everyone has the gene for eye color. The possible alleles are blue, brown, green, etc.
  • 4. More Key Terms D. Genome-total genetic material of an organism or species (Example: The Human Genome) E. Gene pool-total of all genes carried by individuals in a population
  • 5. Mutations A. Chromosome mutations-involve large sections of chromosomes (or the whole thing) -Ex: Down’s syndrome, Turner’s syndrome
  • 6. Mutations B. Gene mutation-involves changes in single base pairs -Some mutations may not have any effect on the cell and may involve: 1. part of the sense strand of DNA which is not transcribed 2. part of the DNA that a cell does not use 3. changes in second or third bases of a codon (since the genetic code is degenerate the same base may still be coded for)
  • 7. Mutations B. Gene mutation-involves changes in single base pairs Example: Insertion or deletion of single organic bases -changes the DNA sequence that will be transcribed and translated original DNA sequence: ATG-TCG-AAG-CCC transcribed: UAC-AGC-UUC-GGG translated: tyr-ser-phe-gly addition of base A: ATA-GTC-GAA-GCC-C transcribed: UAU-CAG-CUU-CGG translated: thy-glu-leu-arg
  • 8. Mutations: Base substitutions and sickle-cell anemia A. Hemoglobin-protein that helps RBC carry oxygen B. Hb is a gene that codes for hemoglobin -made of 146 amino acids C. In some cases one base is substituted for another normal: (HbA) base substitution: (HbS) CTC CAC GAG GUG -after transcription and translation HbA produces glutamic acid and HbS produces valine
  • 9. Mutations: base substitutions and sickle-cell anemia D. The altered hemoglobin HbS is crystalline at low oxygen levels causing the RBC to become sickled and less efficient at oxygen transport E. Symptoms of sickle cell anemia -physical weakness -heart or/and kidney damage -death
  • 10. Mutations: base substitutions and sickle-cell anemia F. In heterozygous people (one normal allele and one sickle cell allele) -the alleles are codominant, but the normal allele is expressed more strongly -in codominance both alleles are expressed (one is not dominant to the other) -some sickled cells present, but most are normal -some people show mild anemia (deficiency of the hemoglobin, often accompanied by a reduced number of red blood cells and causing paleness, weakness, and breathlessness)
  • 11. Mutations: base substitutions and sickle-cell anemia G. Advantages of being heterozygous -In areas where malaria is infested: -Plasmodium cannot live in erythrocytes with HbS -Heterozygous individuals have a reduced chance of contracting the protist that is carried by mosquitoes
  • 12.
  • 13. Karyotyping A. Karyotyping-process of finding the chromosomal characteristics of a cell -chromosomes are stained to show banding and arranged in pairs according to size and structure -You should be able to look at a karyotype and determine the sex of the individual and if non-disjunction has occurred
  • 14. Amniocentesis and karyotyping A. Amniocentesis -performed at around 16 wks -sample of amniotic fluid is taken and cultured -when there are enough cells, a karyotype can be performed -chromosomes are arranged into pairs to detect any abnormalities -can be used to detect Down’s syndrome (a.k.a. trisomy 21) -can be used to recognize sex or non-disjunction
  • 16. Karyotyping and Chorionic villus sampling Sampling is performed around 11 weeks of pregnancy Cells are gathered from chorionic villi (cells from the zygote) Cells are cultured, DNA is extracted and a karyotype is made
  • 17. A Side by Side Comparison
  • 18. Meiosis Key Terms A. Diploid-having two sets of chromosomes B. Homologous chromosomes-matching pairs of chromosomes -have the same genes -are not identical (one chromosome comes from each parent, thus alleles may be different) -found in diploid cells C. Haploid-having only one set of chromosomes
  • 19. More Meiosis Terms D. Chromatids -two parts of a chromosome E. Centromere -part of a chromosome that connects the chromatids F. Reduction division-in organisms that reproduce sexually -reduction of the number of chromosomes by half (from a diploid nucleus to a haploid nucleus) -think of eggs and sperm; both are haploid (when they unite the diploid number is restored)
  • 20. Meiosis B. Produces gametes (sperm and egg) C. Overview 1. homologous chromosomes pair (diploid) 2. two divisions (meiosis I and meiosis II) 3. result=4 haploid cells D. When gametes unite (to produce a diploid cell) a cell with homologous pairs is created -one set of chromosomes is from the mom and one set of chromosome is from the dad
  • 21. chiasmata Meiosis (details) Tetrad A. Interphase -DNA replication B. Prophase I -chromosomes condense -nucleolus becomes visible -spindle formation -synapsis-homologous chromosomes are side by side (they become a tetrad and are intersected at the chiasmata) -nuclear membrane begins to disappear
  • 22. Meiosis (details) C. Metaphase I: Bivalents move to equator D. Anaphase I: -Homologous pairs split -One chromosome from each pair moves to opposite pole E. Telophase I: -Chromosomes arrive at poles -Spindle disappears
  • 23. Meiosis (details) F. Prophase II – new spindle is formed at right angles to the previous spindle G. Metaphase II – Chromosomes move to equator H. Anaphase II – -Chromosomes separate -Chromatids move to opposite poles
  • 24. Meiosis (details) I. Telophase II -Chromosomes arrive at poles -Spindle disappears -Nuclear membrane reappears -Nucleolus becomes visible -Chromosomes become chromatin -Cytokinesis
  • 25. Crossing over of homologous chromosomes A. An important source of variation -creates new combinations B. Happens during prophase I C. Called a synapsis D. Recombination-reassortment of genes into different combinations from those of the parents Chiasmata formed during a synapsis
  • 26. Crossover H E Start A A genotype HE B B genotype HE C C genotype he D genotype he D h e H E A Crossover B and C become B recombinants C D h e H E Results A A genotype HE B B genotype He C C genotype hE D genotype he D h e
  • 27. Meiosis and genetic variation A. The number of possible gametes produced by random orientation of chromosomes is 2n (where n is = to the haploid number of chromosomes) B. In humans the production of 1 gamete has over 8 million possible combinations (223) C. Recombination (in prophase I) + Random orientation of chromosomes (in metaphase I) = an infinite number of variations
  • 28. Meiosis and Non-disjunction A. Disjunction - when the homologous chromosomes separate in anaphase I B. Aneuploidy -happens when chromosomes do not separate (in anaphase I or II) -caused by non-disjunction -result: one cell missing a chromosome and one cell having an extra chromosome -Total number of chromosomes = 2n 1 C. Polyploidy- having more than two complete sets of chromosomes (common in plants)
  • 29. Karyotype of non-disjunction Abnormal karyotype (aneuploidy) Normal karyotype (2n=46) 2n + 1 = 47
  • 30. Non-disjunction and Down’s syndrome A. One of the parent gametes contains two copies of chromosome 21 B. The zygote then ends up with 3 copies -2 from one parent -1 from the other C. Down’s syndrome = trisomy 21 D. Chances of non-disjunction of chromosomes increases with age in females (in males too, but less of an effect)
  • 31. Non-disjunction and Down’s syndrome E. Female age has a greater effect because: -gametes are produced before birth -more exposure to chemicals, radiation, etc. F. Male age has less effect because they do not produce gametes until puberty G. Genetics may also increase the likelihood of having a child with Down’s syndrome
  • 32. Theoretical Genetics Key Terms A. Dominant allele-the allele that always shows in the heterozygous state (Example: Bb=brown) B. Recessive allele-the allele that only shows in the homozygous recessive state (Example: bb=blue) C. Codominant alleles-pairs of alleles where two differing alleles are shown in the phenotype in a heterozygote D. Homozygous -having two identical alleles of a gene (Example: BB or bb) E. Heterozygous -having two different alleles of a gene (Example: Bb)
  • 33. More Vocabulary F. Carrier- a person who has a recessive allele, but does not express it (they are generally heterozygous, Bb) G. Genotype-alleles that a person has (the letters) Ex: Bb H. Phenotype- the physical characteristics the a person shows (caused by the genotype) Ex: brown hair or blue eyes I. Test cross- crossing two or more genotypes to find the possible genetic outcomes
  • 34. Mendel’s Monohybrid Crosses A. Punnett square-shows possible outcomes from a test cross B. Mendel studied characteristics of pea plants Wrinkled and round peas (round peas are dominant)
  • 35. Gregor Mendel’s Findings Dominant Recessive Trait Expression Expression 1. Form of ripe seed Smooth Wrinkled 2. Color of seed albumen Yellow Green 3. Color of seed coat Grey White 4. Form of ripe pods Inflated Constricted 5. Color of unripe pods Green Yellow 6. Position of flowers Axial Terminal 7. Length of stem Tall Dwarf
  • 36. Mendel’s Monohybrid Crosses C. Mendel found tall is dominant over short D. His procedures were: 1. Start with 2 pure breeding homozygous plants (This is the P generation.) -Plant 1=tall (TT) -Plant 2= short (tt) 2. Cross-breed the plants -Place pollen from the tall plant in the short plant and vice versa.
  • 37. Mendel’s Monohybrid Crosses D. His procedures were: 3. The F1 generation is the 1st group of offspring. -All were tall, and had a heterozygous genotype. (Tt) -This is an application of the law of segregation. -All offspring had a ‘T’ from one parent and a ‘t’ from the other parent
  • 38. Mendel’s Monohybrid Crosses D. His procedures were: 4. The F1 offspring were then crossed. (Tt x Tt) -Possible outcomes can be found using a Punnett square GENOTYPES T t -25% TT T TT Tt -50% Tt -25% tt t Tt tt PHENOTYPES -75% Tall -25% Short
  • 39. Multiple alleles A. When genes have more than two alleles B. Example: Blood type has 4 phenotypes based on three alleles (IA, IB and i) C. IA and IB are codominant and i is recessive D. This is why parents can have kids with different blood types Phenotypes Genotypes A IAIA or IAi B IBIB or IBi AB IAIB O ii
  • 40. Multiple alleles D. Perform a test cross for P: mother with O blood type and father with AB blood type. What are the possible phenotypes? Phenotypes Genotypes A IAIA or IAi B IBIB or IBi AB IAIB O ii
  • 41. Multiple alleles Perform a test cross for P: mother with O blood type and father with AB blood type. What are the possible phenotypes for F1? P = ii x IAIB i i IA IA i IA i IB IB i IB i None of the children can have the same blood type as either of the parents.
  • 42. Codominance A. When neither allele for a gene is recessive B. Example: Blood type C. Alleles A and B are both dominant (both are expressed) D. i is recessive to alleles A and B E. One letter is chosen and the possible alleles are written in upper case letters to illustrate codominance Phenotypes Genotypes A IAIA or IAi B IBIB or IBi AB IAIB O ii
  • 43. Sex chromosomes and gender Only possibility for P generation = XX and XY X X The sex of all babies is determined by the X XX XX chromosomes in the sperm from the Y XY XY man. -The X chromosome is larger and carries more genes than the Y chromosome -Examples of genes on X, but not Y = color blindness and hemophilia -Many sex-linked traits are related to the X chromosome.
  • 44. Sex linkage A. Genes carried on sex chromosomes (usually X) B. Example: Hemophilia-a blood disorder that prevents clotting -patients do not produce clotting factors that allow coagulation of blood, and thus torn blood vessels are prevented from closing -most common in boys (they get it from their mother’s X chromosome, as they only get one X, which means only one chance to get the dominant allele)
  • 45. Sex linkage C. Two parents without hemophilia: XHXh and XHY XH Xh XH XHXH XHXh Y XHY XhY *The XhXh does is very rare *Males cannot be heterozygous carriers because they only have one X. *Females can be carriers and pass on the trait to the next generation. They can be heterozyg. or homozyg. * XH -Normal and Xh –Hemophilia
  • 46. Predict the genotypic and phenotypic ratios of monohybrid crosses for each of the following. 1. Sickle cell anemia: HbA=normal and HbS=sickle cell HbAHbS x HbAHbS 2. Colorblindness: XB=normal and Xb=colorblind XBXb x XbY 3. Hemophilia: XH=normal and Xh=hemophilia XhXh x XHY 4. Blood type: IAi x IBi **You should be able to determine if alleles are codominant because both alleles will be represented by capital letters. You should also know if the inherited traits are sex-linked.
  • 47. Mendel’s Law of Segregation A. States: The separation of the pair of parental factors, so that one factor is present in each gamete. (This is how it is written in the IB book.) B. The two alleles for each characteristic segregate during gamete production. This means that each gamete will contain only one allele for each gene. This allows the maternal and paternal alleles to be combined in the offspring, ensuring variation. (This is from wikipedia.)
  • 48. Mendel’s Law of Segregation and Meiosis A. Mendel looked at genes (on chromosomes) B. Found that each gene appeared twice (in homologous pairs) C. Figured out that when a synapsis occurs in prophase I followed by a separation in anaphase I, homologous chromosomes move to opposite poles D. One chromosome from each pair ends up in a gamete
  • 49. Mendel’s Law of Independent Assortment A. States that allele pairs separate independently during the formation of gametes B. Any one pair of characteristics may combine with any one of another pair of characteristics C. See p. 163 in Green Book
  • 50. Independent assortment and meiosis A. Any combination of chromosomes is possible in metaphase I (there is no ‘master plan’ for the order that they line up on the metaphase plate before separation) B. Mendel thought all genes were inherited separately and had no relationship -Ex: Pea plants could be green or yellow and wrinkled or round. Shape and color had nothing to do with each other, because the genes are on separate chromosomes. Any combination could have been produced (wrinkled/green, wrinkled/yellow, round/green, round yellow) C. This is demonstrated in Dihybrid crosses. D. Today we realize that there are many exceptions
  • 51. Possible chromosome alignments A Possible random outcomes B
  • 52. Mendel’s Law of Independent Assortment A. Any one of a pair of characteristics may combine with either one of another pair B. Example: gene=shape of pea alleles=round (R) or wrinkled (r) gene=color of pea alleles = yellow (Y) or green (y) *When crossing two plants that are heterozygous for both traits the offspring will show all combinations. This shows that genes for shape and color are independent (unlinked).
  • 53. Dihybrid crosses Parent genotypes: SsYy x SsYy -S=smooth s=wrinkled -Y=Yellow y=green SY Sy sY sy Possible allele SY SSYY SSYy SsYY SsYy combos from one Sy SSYy SSyy SsYy Ssyy parent sY SsYY SsYy ssYY ssYy sy SsYy Ssyy ssYy ssyy
  • 54. F1 Genotypic ratios Possible ratios for 1:SSYY SsYy x SsYy 2:SSYy 1:SSyy SY Sy sY sy 2:SsYY 4:SsYy SY SSYY SSYy SsYY SsYy 2:Ssyy 1:ssYY Sy SSYy SSyy SsYy Ssyy 2:ssYy 1:ssyy sY SsYY SsYy ssYY ssYy F1 Phenotypic ratios 9: smooth-yellow 3:smooth-green sy SsYy Ssyy ssYy ssyy 3: wrinkled-yellow 1: wrinkled-green
  • 55. Perform a test cross for P: SSYY x ssyy 1. What will the genotype and phenotype ratios be for the F1 generation? 2. What will the phenotype and genotype ratios be for the F2 generation? 3. Determine the recombinants in each generation.
  • 56. Perform a test cross for P generation: SSYY x ssyy SY SY SY SY sy SsYy SsYy SsYy SsYy sy SsYy SsYy SsYy SsYy Sy SsYy SsYy SsYy SsYy Sy SsYy SsYy SsYy SsYy All F1 generation offspring are heterozygous (SsYy). What will the outcome be if you cross two individuals from F2?
  • 57. Autosomal Gene Linkage A. Autosome -all chromosomes that are not sex chromosomes B. Sex chromosomes -determine if an individual is male or female C. Linkage group -a group of genes whose loci are on the same chromosome D. Gene linkage is caused by pairs of genes being inherited together. The presence or absence of one can affect the other.
  • 58. Autosomal Gene Linkage A. In gene linkage, all of the genes on a chromosome are inherited together B. Does not apply to Mendel’s law of independent assortment C. The closer the loci of the two genes on the chromosome, the smaller the chance that crossing over will occur in a chiasmata D. If no info. is given, assume the genes are not linked
  • 59. Autosomal Gene Linkage E. These genes do not follow the law of F1 generation independent assortment. PL PL PL PL F. Example: pl P=purple, p=red, L=long, l-round pl P gen.=PPLL x ppll pl pl *all PpLl
  • 60. Autosomal Gene Linkage F2 generation F. Example continued: P=purple, p=red, PL Pl pL pL L=long, l-round PL F1 gen.=PpLl x PpLl Pl -predicted results would be a ratio of 9:3:3:1 pL -observed results were very pL different than predicted because the genes are for color and pollen shape are linked on the same chromosome. See p. 87 in your review guide.
  • 61. Gene linkage and Drosophila A. When genes are linked actual outcomes do not match expected outcome B. This would be evident in a dihybrid cross (a cross between two genes) C. Linked genes are represented in vertical pairs with horizontal lines between them Example: b+=tan body b=black body w+=long wings w=short wings b+ w+ *The fly is tan and has long wings. b+ w+ (genotype b+b+w+w+)
  • 62. Gene linkage in Drosophila
  • 63. Recombinants and gene linkage A. Recombinants are formed as a result of crossing over (during prophase I) B. They are found in combinations that did not exist in the parents
  • 64. Polygenic Inheritance A. When the inheritance/expression of a characteristic is controlled by more than one gene B. Example: Human skin color -involves at least 3 independent genes -A, B and C represent alleles for dark -a, b and c represent alleles for light skin -P: AABBCC x aabbcc -F1: AaBbCc (all are heterozygous for all alleles) -F2:???
  • 65. Polygenic Inheritance B. Example: Human skin color -F2:??? -to find out you can make a Punnett square -The more dominant alleles there are, the darker the skin -Dominant alleles are codominant (they are all expressed)
  • 66. Polygenic inheritance (Other traits) A. Height B. Eye color C. Finger prints
  • 67. Polygenic Inheritance Example: Flower color of beans -Genes A and B control color expression -AP and BP = purple -AW and BW = white -Each color has two alleles -Purple and white are codominant -Because of the codominance the flowers will be shaded depending on their genotypes
  • 68. P: APAPBP BP x AWAWBWBW F1: APAWBPBW AP BP AP BP AP BP AP BP AWBW AWBW AWBW AWBW
  • 69. F1: APAWBPBW x APAWBPBW F2: See Punnett square (fill it in) Determine which ones are white, purple and intermediates.) AP BP AP BW AWBP AWBW AP BP AP BW AWBP AWBW
  • 70. Polygenic inheritance and variation patterns Two patterns are commonly expressed A. Continuous variation – shows a continuum of variation among a population in a bell curve format - Example: In height expression people can be short, medium or tall (and everything in between) B. Discontinuous variation – does not show a continuum (it is one or the other, there is no in- between expression of phenotype) - Example: Blood type can be A, B, AB or O (nothing in between)
  • 71. Pedigree Charts A. Used to show inheritance of traits over several generations B. Affected individuals-shaded black C. Unaffected individuals- left blank D. Heterozygous individuals (carriers)- shaded grey or filled in half way E. Example: Queen Victoria and hemophilia (recessive/sex-linked)
  • 72.
  • 73. PCR A. PCR=polymerase chain reaction B. PCR=DNA photocopier C. Used to make copies of specific DNA sequences (for study)
  • 74. How a PCR works 1. DNA is heated (H bonds are broken) 2. RNA primers are added to start replication 3. As the DNA cools primers bind to the single strands (H bonds and complementary base pairing) 4. Nucleotides and DNA polymerase are added
  • 75. How PCR works 5. Nucleotides bond with ‘exposed’ bases on the DNA strand 6. DNA polymerase joins them 7. Complimentary strands are formed 8. New strands can be heated, separated and copied 9. Animation
  • 76. Gel electrophoresis A. Technique used to separate molecules base on their rates of movement in an electric field -caused by charge and size of molecules B. Commonly used in DNA profiling
  • 77. Gel electrophoresis and DNA profiling A. Scientists cut a mixture of DNA into segments by restriction enzymes B. Place into a special gel with a current running through it C. DNA separates into bands according to size D. Mixture is compared to a control group E. The more similar the DNA strands are the more closely they are related F. See p. 30 in review guide or p. 66 in IB textbook for examples
  • 78. Figure 3. Comparison of known gel results for normal hemoglobin (AA), sickle cell disease (SS) and sickle cell trait (AS). S represents the molecular size marker. What results are present in the lanes marked with a question mark?
  • 79. Application of DNA profiling A. Criminal investigations -collect blood or semen from suspect -if enough is not present use PCR -compare gel electrophoresis of suspect and victim B. Indentify remains of deceased -take blood samples of living -compare with samples from dead C. Paternal tests
  • 80. Genetic screening A. Test individuals in a population for presence of absence of a gene or allele
  • 81. Genetic Screening B. Advantages: 1. pre-natal diagnostics (seek treatment or abortion) Ex: PKU or down’s syndrome 2. Reduce frequency of alleles that cause genetic illnesses (opt to not reproduce or use IVF and select embyros without genetic defect) 3. Genetic diseases that show symptoms in later life can be detected earlier (Ex: Huntington’s disease)
  • 82. Genetic Screening C. Disadvantages: 1. Increased abortion rate 2. Harmful psychological effects -could lead to discrimination (when seeking insurance or medical assistance) -fear of getting older (depression) -creates a genetic ‘underclass’
  • 83. Human Genome Project A. An international cooperative venture established to sequence the complete human genome B. Hope to determine the location and structure of all genes in the human chromosomes C. Genome-total genetic material of a cell D. Completed in 2000 (about 10 years early)
  • 84. Advantages of the Human Genome Project A. Understand genetic diseases B. Figure out if any of them can be prevented though screening -could also be negative (in terms of insurance or employers) C. May lead to development of pharmaceuticals D. Insight into evolution and migration patterns
  • 85. Genetic Modification A. Deliberate manipulation of genetic material B. Genetic code is universal -it can be transferred between organisms because the bases are the same C. Used to create new combinations of DNA D. Mutation and recombination occur naturally (often are disadvantageous and do not remain in the population)
  • 86. Genetic Modification E. Genetic engineers direct the process of recombination -increase chances of favorable combinations
  • 87. Technique for gene transfer Example-insulin production A. Must have a vector (bacteriophage), a host (bacteria), restriction enzymes and DNA ligase B. Plasmids (small circular DNA from bacteria) are cut using restriction enzymes C. Sticky ends are created by adding C nucleotides
  • 88. Technique for gene transfer Example-insulin production D. mRNA that codes for insulin is extracted from the pancreas E. Reverse transcriptase makes DNA from the mRNA F. Sticky ends are creating by adding G nucleotides G. Insulin gene and plamsid are mixed H. They join together at the sticky ends (C pairs with G)
  • 89. Technique for gene transfer Example-insulin production I. Plasmid with the human insulin gene is called a recombinant J. Host cell (usually E. coli) receives the gene K. E. coli are cultured w/ new gene L. Insulin produced by modified E. coli is extracted and eventually given to diabetics
  • 90. Other examples of genetic modification A. Insulin production in E. coli (discussed above) B. Bacteria can be modified to produce growth hormone for cows -cows injected with hormone increase milk production by 10-20% C. Breeding of plants to increase disease resistance D. Dog breeding
  • 91. Benefits of genetic modification A. Less disease (possibly) -long term effects are unknown B. More product -Ex: milk C. Some are beneficial with no know side effects -Ex: Insulin production
  • 92. Negative aspects of genetic modification A. Introducing plasmids -hospitals fear them -can carry genes for antibiotic resistance -can be passed from one species to another B. Don’t know long term effects (Example) -effects of using growth hormone in cows is unknown (some could be in our food) -cows needs extra antibiotics to stay healthy (we get these too) C. Could create super bacteria D. Less than perfect becomes unacceptable (if anyone can be genetically modified before birth)
  • 93. Gene therapy A. Treatment of genetic illness by modification of genotype, or base sequence, or allele (dominant for recessive) B. Best if done with stem cells C. Many attempts have not been successful D. Read SCID example on p. 28
  • 94. Cloning A. Clone-group of individuals identical in genotype or a group of cells descended from a single parent cell
  • 95. How Dolly was made 1. Udder cells removed from sheep 1 a. cells grown in a culture to turn off their genes 2. Embryos removed from sheep 2 a. Nuclei removed from embryos 3. Embryos and udder cells fused by electricity to form zygotes 4. Zygotes developed to embryos 5. Embryos implanted into Sheep 3 (the surrogate mother) 6. Dolly develops and becomes first born clone a. Identical to sheep 1
  • 96. Ethical issues of cloning in humans A. Possible to only clone a specific organ? B. Does the whole person need to be cloned for organ donation? -if we take the heart, what do we do with the rest of the body C. Read p. 32 in the review guide for arguments for and against therapeutic cloning of humans.