568295
You and Your Genes
- Reproduction and Stem Cells
- Genetic Diseases
- Genetic Testing
- Genetic Information
- Genetic Information
- DNA
- The instructions for a cell
are within a gene
- CHROMOSOMES
- These occur in very long DNA
molecules called chromosomes
- Chromosomes are made of DNA
molecules
- Each DNA molecule consists of two
strands, which form a double helix
structure
- Each DNA molecule consists of two
strands, which form a double helix
structure
- These occur in very long DNA
molecules called chromosomes
- GENES
- Sections of DNA describe
how to make proteins
- Sections of DNA describe
how to make proteins
- The instructions for a cell
are within a gene
- VARIATION
- Genetic - dimples or not
- Environmental - cutting skin
may cause a scar
- Genetic - dimples or not
- ALLELES
- Can be either dominant or recessive
- TT - Homozygous dominant
tt - Homozygous recessive
Tt-heterozygous
- TT - Homozygous dominant
tt - Homozygous recessive
Tt-heterozygous
- Can be either dominant or recessive
- SEX CELLS
- Eggs produced in ovaries,
Sperm produced in Testes
- Each has 23 single chromosomes which will
pair up with eachother and fuse together
during fertilisation
- Each has 23 single chromosomes which will
pair up with eachother and fuse together
during fertilisation
- The pairing of chromosomes is
random
- This means that the offspring will
differ from the parents
- The child will share
similarites depends on which
came from the father or
mother, and which ones are
dominant or recessive
- The child will share
similarites depends on which
came from the father or
mother, and which ones are
dominant or recessive
- This means that the offspring will
differ from the parents
- SEX DETERMINATION
- XX = female
- XY = male
- XY = male
- XX = female
- Eggs produced in ovaries,
Sperm produced in Testes
- GENETIC DIAGRAMS
- Punnet Square
- Family Trees
- Punnet Square
- DNA
- Genetic Testing
- WHAT IS IT
- Can test adults, children
and embryos for a faulty
allele if there is family history
of a genetic disorder
- Can also test to see
if you can be
prescribed a drug
without suffering from
serious side effects
- Can also test to see
if you can be
prescribed a drug
without suffering from
serious side effects
- Embryos can be tested for
embryo selection
- Healthy ones can be
implanted as normal
(IVF - In vitro
fertilisation )
- Healthy ones can be
implanted as normal
(IVF - In vitro
fertilisation )
- Can test adults, children
and embryos for a faulty
allele if there is family history
of a genetic disorder
- AMNIOCENTESIS TESTING
- RISKS
- 0.5% (1 in 200) chance
of the test causing a
miscarraige
- Small chance of
infection
- 0.5% (1 in 200) chance
of the test causing a
miscarraige
- WHAT IS IT
- Carried out 14-16 weeks into pregnancy
- Needle inserted into uternus and a
small sample of amniotic fluid is
extracted
- Needle inserted into uternus and a
small sample of amniotic fluid is
extracted
- POSITIVE RESULTS
- Can be terminated between 16-18 weeks
- Can be terminated between 16-18 weeks
- Carried out 14-16 weeks into pregnancy
- RISKS
- CHORIONIC VILLUS TESTING
- WHAT IS IT
- Carried out 8-10 weeks into pregnancy
- Special catheter inserted into vagina
and cervix until it reaches the placenta
- Part of placenta has finger-like protusions called
chorionic villi. Samples are removed for testing
- Part of placenta has finger-like protusions called
chorionic villi. Samples are removed for testing
- Special catheter inserted into vagina
and cervix until it reaches the placenta
- POSITIVE RESULTS
- If there is a faulty
allele the pregnancy
can be terminated.
- Can be terminated much
earlier at (10 - 12 weeks
into pregnancy)
- Can be terminated much
earlier at (10 - 12 weeks
into pregnancy)
- If there is a faulty
allele the pregnancy
can be terminated.
- Carried out 8-10 weeks into pregnancy
- RISKS
- Chance of miscarriage at 2% (1 in 50)
- Small chance of infection
- Chance of miscarriage at 2% (1 in 50)
- WHAT IS IT
- RELIABILITY
- True Positive
- Test Result: Subject has disorder
Reality: Subject has disorder
- Test Result: Subject has disorder
Reality: Subject has disorder
- False Positive
- Test Result: Subject
has disorder Reality:
Subject does not have
the disorder
- Healthy embryo would be terminated
- Test Result: Subject
has disorder Reality:
Subject does not have
the disorder
- True Negative
- Test Result: Subject does not
have the disorder Reality: Subject
does not have the disorder
- Test Result: Subject does not
have the disorder Reality: Subject
does not have the disorder
- False Negative
- Test Result: Subject does not have the disorder
Reality: Subject has the disorder
- Birth of child with the disorder
- Test Result: Subject does not have the disorder
Reality: Subject has the disorder
- If subject was a parent, they may
decide not to have children if the
result was a false positive
- True Positive
- ETHICAL
CONSIDERATIONS
- Should child be terminated?
- Tell child of possible Huntington's?
- Death of healthy embryos?
- Should child be terminated?
- WHAT IS IT
- Reproduction and
Stem Cells
- ASEXUAL REPRODUCTION
- CLONES
- When a cell grows and
divides into two
- CLONES
- STEM CELLS
- EMBRYONIC
- WHAT ARE THEY
- Embryonic stem cells are
unspecialised that can
develop into any type of
cell, including more
embryonic cells
- Embryonic stem cells are
unspecialised that can
develop into any type of
cell, including more
embryonic cells
- Both can be used to
treat some illnesses or
injuries
- E.g. Skin can be grown as a treatment
for serious burns and sight can now
be restored to people who are blind
due to damage of their corneas
- E.g. Skin can be grown as a treatment
for serious burns and sight can now
be restored to people who are blind
due to damage of their corneas
- After the 16 cell stage, they start to
become specialised, with some genes
switched off and some on
- This leads to the production of proteins.
- If specialised divide, it can
only make the same type
of cell
- This leads to the production of proteins.
- WHAT ARE THEY
- ADULT
- WHAT ARE THEY
- Adult stem cells are
unspecialised cells that can
develop into many, but not all,
types of cell
- Adult stem cells are
unspecialised cells that can
develop into many, but not all,
types of cell
- WHAT ARE THEY
- EMBRYONIC
- IDENTICAL TWINS
- CLONES
- Two organisms with the same
genetic information
- Artificial clones - taking nucleus from adult
body cell and transferring it into an empty,
unfertilised egg (Dolly the Sheep)
- Two organisms with the same
genetic information
- The developing embryo split into two
- CLONES
- ASEXUAL REPRODUCTION
- Genetic Diseases
- HUNTINGTONS DISEASE
- DISEASE AND CAUSE
- Huntington's is a genetic disorder
that affects the centrel nervous
system. It is caused by a faulty
dominant allele on chromosome 4
- Huntington's is a genetic disorder
that affects the centrel nervous
system. It is caused by a faulty
dominant allele on chromosome 4
- SYMPTOMS
- Late onset, a tremor,
clumsiness, ,memory loss, an
inability to concentrate and
mood changes
- Late onset, a tremor,
clumsiness, ,memory loss, an
inability to concentrate and
mood changes
- DISEASE AND CAUSE
- CYSTIC FIBROSIS
- DISEASE AND CAUSE
- It affects the cell membranes,
causing a thick mucus to be
produced in the lungs, gut and
pancreas
- Caused by a recessive allele (can be a carrier)
- It affects the cell membranes,
causing a thick mucus to be
produced in the lungs, gut and
pancreas
- SYMPTOMS
- Difficulty breathing, chest
infections, difficulty digesting
food
- Difficulty breathing, chest
infections, difficulty digesting
food
- DISEASE AND CAUSE
- HUNTINGTONS DISEASE
Medienanhänge
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