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Biology Unit 1
Genetic disorders and diagnoses
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Cards (74)
What is cystic fibrosis classified as?
A
homozygous recessive
genetic disorder
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What is the role of the CFTR protein in cystic fibrosis?
It regulates
chloride ion
transport in
cells
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How does the genotype of parents affect the inheritance of cystic fibrosis?
Both parents must be
carriers
to inherit
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Why do individuals with cystic fibrosis require a higher energy diet?
Thick mucus reduces
digestive enzyme
release
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What is the purpose of the newborn heel prick test?
To screen for
cystic fibrosis
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What is Huntington’s disease classified as?
A
dominant
genetic disorder
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At what age do symptoms of Huntington’s typically manifest?
Between
30
and
50
years old
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What neurotransmitter is lacking in Huntington’s disease?
GABA
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How does the inheritance of Huntington’s disease differ from cystic fibrosis?
Huntington's can be
inherited
from one parent
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What causes Down’s syndrome?
An extra copy of
chromosome 21
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What is non-disjunction in the context of Down’s syndrome?
Error in
meiosis
leading to an
extra chromosome
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What is the significance of familial pedigrees in genetics?
They record
inheritance
patterns of
disorders
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What are the limitations of genetic pedigree diagrams?
They do not definitively show
carriers
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What is the role of artificial clotting factors in haemophilia treatment?
To help stop bleeding in
patients
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What is the method used to assess clotting time in haemophilia patients?
A
blood test
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What is the phenotype of a carrier for a recessive disorder?
Non-affected
/
non-sufferer
phenotype
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What does a Punnett Square illustrate in genetics?
Possible
offspring
genotypes from parents
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How can genetic diagrams help in predicting disease inheritance?
They show
allele
combinations from
parents
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What is the definition of a gene?
A
sequence
of bases coding for
proteins
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What is the difference between homozygous and heterozygous genotypes?
Homozygous has identical
alleles
, heterozygous has different
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What does the term 'sex linkage' refer to in genetics?
A gene carried on the
X chromosome
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What is the phenotype of an affected individual in a recessive disorder?
They exhibit the disease
phenotype
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What is the significance of the ratio in genetic diagrams?
It indicates
probabilities
of offspring traits
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How does the inheritance of a recessive disorder differ from a dominant disorder?
Recessive requires both parents to be
carriers
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What is the role of genetic screening in inheritance patterns?
It provides definitive results on
carrier status
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What is the expected outcome of a genetic test for Huntington’s disease?
Confirmation of the
diagnosis
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What is the importance of understanding genetic disorders in health?
It aids in
diagnosis
and
treatment planning
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How can familial pedigrees help in understanding genetic disorders?
They illustrate
inheritance
patterns across
generations
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What is the significance of the chloride ion in cystic fibrosis?
It affects
mucus consistency
in the body
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What is the expected chance of being an unaffected carrier in cystic fibrosis?
50%
chance of being an unaffected carrier
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What is the role of the sweat test in cystic fibrosis diagnosis?
It measures
salt concentration
in sweat
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How does the inheritance of haemophilia differ from other genetic disorders?
It is
sex-linked
and primarily affects males
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What is the impact of mutations in oncogenes?
They can lead to
uncontrolled
cell growth
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What is the definition of a carrier in genetics?
One
allele
is
recessive
for a disorder
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What is the significance of understanding genotype and phenotype in genetics?
It helps predict
traits
and
disorders
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How do genetic diagrams assist in predicting offspring traits?
They show
allele
combinations from parents
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What is the role of genetic testing in diagnosing disorders?
It confirms the presence of
genetic conditions
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What is the expected ratio of unaffected to affected offspring in Huntington’s disease?
1:1
ratio of unaffected to affected
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What is the significance of the Punnett Square in genetics?
It predicts
offspring
genotype
probabilities
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How does the inheritance of Down’s syndrome occur?
Through non-disjunction during
meiosis
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