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inherited disorders
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Cards (20)
What is the main symptom of cystic fibrosis?
Difficulty breathing
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How does cystic fibrosis affect the lungs and digestive system?
It causes thick, sticky mucus to clog the lungs and digestive system
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What is the life expectancy for individuals with cystic fibrosis?
It is
reduced
compared to individuals
without
the condition
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What type of allele causes cystic fibrosis?
A faulty
recessive
allele
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How many copies of the faulty gene must a child inherit to be born with cystic fibrosis?
Two copies, one from each parent
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What is the genotype of an individual who has cystic fibrosis?
Homozygous recessive (ff)
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What genotype will a carrier of cystic fibrosis have?
Heterozygous
(Ff)
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What is the probability of two heterozygous parents (Ff) having a child with cystic fibrosis?
25%
or 1 in
4
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What is the probability of offspring from a heterozygous (Ff) and homozygous dominant (FF) parent having cystic fibrosis?
0%
chance
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What is polydactyly?
An inherited condition where a person has
extra fingers
or
toes
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What type of allele causes polydactyly?
A
dominant
allele
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What is the probability of offspring having polydactyly if one parent has the condition?
50%
or 1 in
2
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What does genetic testing analyze?
A person's DNA to see if they carry
alleles
that cause
genetic
disorders
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What is antenatal testing?
Testing done to analyze an individual's
DNA
or
chromosomes
before they are born
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What is neonatal testing also known as?
The newborn
blood spot
test
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What does pre-implantation genetic diagnosis (PGD) involve?
Testing embryos for genetic variants before
implantation
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What is the process of in vitro fertilization (IVF)?
Eggs
are collected and fertilized in a
Petri
dish
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What happens to embryos that do not contain the disorder allele during PGD?
They are
implanted
into the
uterus
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What are the key characteristics of cystic fibrosis and polydactyly?
Cystic Fibrosis:
Affects lungs,
pancreas
, liver, and
intestine
Caused by a faulty
recessive
allele
Symptoms include difficulty
breathing
Requires
two
copies of the faulty gene (ff)
Polydactyly:
Inherited
condition with extra fingers or toes
Caused by a
dominant
allele
Requires only
one
copy of the dominant allele (PP or Pp)
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What are the types of genetic testing and their purposes?
Types of Genetic Testing:
Antenatal
Testing: Analyzes DNA before birth
Neonatal
Testing: Newborn blood spot test for early detection
Pre-implantation Genetic Diagnosis
(PGD): Tests embryos for
genetic
disorders before implantation
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