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Date: March 8, 2016
Aim #59: How can chromosomal abnormalities cause
genetic disorders?
Do Now: Warm-Up Notebook
Date
Title of Activity
3/8
Nondominance
Page #
103
HW:
1) Complete Pedigree Packet
2) Classical Genetics Quiz Thursday (p.5) and Friday (p.1 & p.7)
–
Review Session Wednesday morning Room 142
3) Human Phys. Unit 7b Packet due Friday (March 18th)
Aim #59: How can chromosomal
abnormalities cause genetic
disorders?
22 pairs of body
chromosomes
Karyotype
•A tool used by doctors to
help diagnose genetic
disorders due to
chromosomal
abnormalities.
•All 46 chromosomes are
arranged in homologous
pairs by NUMBER
1 pair of sex
chromosomes
Sex Chromosomes
•There are TWO sex
chromosomes (X and Y)
and depending on which
combination you receive
will determine if you are
a male or a female.
•XX- Female
•XY- Male
How are genetic disorders inherited in our
autosomes?
• Carrier: person who has
the recessive allele, but
does not have the disease
because the second allele
is normal:
Cc
Cc
Cc
• If both parents are
carriers, what percentage
of children will have the
disease?
Great Grandparents
Great Grandparents
Pedigree Chart
- A diagram that
shows the presence or
absence of a particular
c
trait through each
generation.
CcCc
cc
Recessive gene on a body chromosome
Aa
?
aa
aa
Aa
Aa
Aa
aa
aa
?
Aa
aa
Date: March 9, 2016
Aim #59: How can chromosomal abnormalities cause
genetic disorders?
Do Now: Warm-Up Notebook
Date
Title of Activity
Page #
3/9
Thinking Critically About Genetics 104
HW:
1) PRACTICE!!
2) Classical Genetics Quiz Thursday (p.5) and Friday (p.1 & p.7)
–
Review Session Wednesday morning Room 142
3) Human Phys. Unit 7b Packet due Friday (March 18th)
Tay-Sachs disease
Recessive disorder
• Cause: gene for an
enzyme that breaks
down fat is mutated
• Symptoms: mental
deficiency, blindness,
death in early childhood
• Testing: look for
enzyme
Need 2 recessive alleles present to have the disease
Dominant Gene Disorders
Unlike a recessive disorder where you
need to inherit two recessive genes, if
you inherit the one dominant gene,
then you have the disease
cc
Cc
Cc
cc
c Cc
cc
Cc
cc
Hypercholestoremia
Dominant disorder
• Cause: gene for receptors
on the cell membrane
that take cholesterol into
the cell and break it down
are mutated
• Symptoms: cholesterol in
blood, heart disease
• Incidence: 1 in 250- 500
people
•Normal total cholesterol levels:
• Testing: blood test for
Children 112-200 mg/dl
cholesterol
Adults 122-218 mg/dl
Sex linked genetic disorders
• Genes that are
defective are
carried on the X
chromosome
Colorblindness
• A condition where a person cannot see certain colors,
usually red and green.
– Males are colorblind if they receive only one copy
of the allele (c = colorblind allele)
» XC Y
– Females need two copies of the allele to get the trait
» XC XC = colorblind female
» XC X = not colorblind, it is a carrier because it
can pass the trait on to offspring.
Human Genome Project
Scientists studied and mapped the human genome
(determined the entire nucleotide sequence of
DNA). Why is this so important?
Why is it important to diagnose
these diseases?
TREATMENT
Summary
• How do chromosomal mutations lead to genetic disorders?
• Why might an individual with normal vision be considered to have
the color blindness gene?
• How could the human genome project lead to the elimination of
disease?