2. Hemophilia
• An inherited blood disorder that slows the
blood clotting process
• This means that the factors that cause the
blood to clot are missing
• In the past life expectancy was age 11 but
now it is only about 10 years less than
average
3. • Hemophilia is a sex linked disorder, it is
found on the X chromosome
• (Remember females are XX and males are
XY)
• A mother who is a carrier has a 50%
chance of passing the faulty chromosome
to her daughter
• An affected father will always pass on the
affected gene to his daughter
6. • Affected males usually are infertile, some
degree of language learning impairment may
be present, as well they may have more
feminine body characteristics
7.
8. What is the difference
between sex
chromosomes and
somatic chromosomes?
9. • Sex Chromosomes: X and Y, these
chromosomes code for sex characteristics
• Somatic Chromosomes: 1-22, these code
for all other characteristics in the body
regardless of sex
10. Asexual Reproduction
• Type of reproduction that involves only one
parent
• Produces offspring that are generally
identical to the parent
11. • Asexual reproduction is beneficial because
it allows populations to continue even if
their is a lack of males
• The downside is that because offspring are
identical to parents, genetic variation is
lacking and the population is susceptible to
disease
• e.g. Bananas
12. Sexual Reproduction
• Reproduction involving the union or fusion
of a male and female gamete
• Because 1/2 of the genetic material comes
from each parent there is much more
genetic variation within offspring
14. Recombinant DNA
• Type of DNA that is artificially created by
inserting a strand or more of DNA into a
different set of DNA
• Called rDNA
15. • Used to introduce specific characteristics
into different crops, bacteria and animals
• commonly used to create strains of crops
that are draught resistance, etc
16. Steps in Creating
Recombinant DNA
• 1. Isolate gene
• 2. Prepare target DNA, a circular piece of
DNA(called plasmid) is taken from one
organism, special proteins are used to cut
open the DNA
• 3. Insert DNA into Plasmid, the gene that is
being inserted is put into the plasmid ring
and the ring is closed again
17. • 4. Insert Plasmid back into cell, the DNA
that contains the human gene is inserted
into a bacteria
• 5. Plasmid multiply, when the bacteria
multiplies, whatever the new gene codes
for presents itself in the new offspring
• 6. Target cells reproduce
• 7. Cells produce proteins
18. Genetic Screening
• Process that allows for the identification of
inherited diseases, paternity, mutations, etc
19. Adult
• Can be used in presymptomatic testing for
adult-onset disorders like Huntington’s or
for estimating the risk of developing adult-
onset cancers or Alzheimers
20. pre-natal testing
• Ultrasound-can be used to check for
abnormal development
• Amniocentesis-a sample of amniotic fluid is
taken, can be used to check for Downs
syndrome, neural tube defects, etc
• Karyotype-done with samples taken from
amniocentesis etc
21. Explain why you think
genetic testing can have
positive effects and
negative effects in a
paragraph
23. deme and gene pool
• Deme-a term for an isolated population
that interbreed with each other and share a
distinct gene pool
• Gene pool-the complete set of unique
alleles in a population
24. • a large gene pool indicates extensive
genetic diversity, this means that the
population will be able to withstand
disease, etc
• a small gene pool can lead to deme’s which
can lead to susceptibility to certain diseases
etc within that population, e.g. hemophilia
in the royal family, tay-sachs in Ashkenazi
jewish populations, etc
27. Genetic Drift
• frequency of traits can change in a
population due to chance events
• this is NOT adaptation to environmental
conditions
• Occurs with the founder effect and
bottleneck effect
28. • Founder effect: small group splinters off and
starts a new colony
• just by chance some rare alleles may be at
high frequency, others may be missing
• skews the gene pool of the new population
• e.g. colonization of ‘New World’-human
populations that started from small groups
of colonists
29.
30. • Bottleneck effect: when a large population
is drastically reduced by a disaster i.e.
famine, natural disaster, loss of habitat
• loss of variation by chance event, alleles lost
from gene pool
• this narrows the gene pool
31.
32. • Bottleneck example: Cheetahs
• all share a small number of alleles-less that
1% diversity, as if ALL cheetahs are identical
twins
• 2 bottlenecks-10,000 years ago(Ice Age),
last 100 years (poaching and loss of habitat)
