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Paper 2
Topic 6: Inheritance, Variation and Evolution
Cystic Fibrosis
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Cards (13)
What inherited disorder is discussed in this video?
Cystic fibrosis
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What are the key characteristics of cystic fibrosis?
Disorder of
cell membranes
Controlled by a
single gene
Two
alleles
:
dominant
(normal function) and
recessive
(defective function)
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What is the difference between dominant and recessive alleles?
A dominant allele is expressed with one
copy
; a recessive allele needs two copies.
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What is the symbol for the dominant allele for normal cell membrane function?
Capital C
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What is the symbol for the recessive allele for defective cell membranes?
Lowercase c
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How many copies of the defective allele must a person inherit to have cystic fibrosis?
Two
copies of the defective allele
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What does it mean to be a carrier of the cystic fibrosis allele?
A carrier has one
defective
allele and one normal allele.
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How do you construct a Punnett square for cystic fibrosis inheritance?
Write down the
genotypes
of the
gametes
Combine male and female gametes
Determine offspring genotypes and phenotypes
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What is the expected genotype ratio of offspring from a cross between a heterozygous male and a homozygous normal female?
1:1 ratio of
carriers
to
non-carriers
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What percentage of offspring from a cross between a heterozygous male and a homozygous normal female will be carriers?
50%
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What are the expected outcomes of a cross between two carriers of the cystic fibrosis allele?
25%
homozygous
normal (not affected)
50%
heterozygous
carriers
25% homozygous for defective allele (have cystic fibrosis)
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What is the ratio of offspring from a cross between two carriers of cystic fibrosis?
1:2:1
ratio
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Why are the numbers in genetic crosses considered probabilities?
They are expected
outcomes
, not certainties.
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