Edexcel IAL Biology A-level

2.15-2.18 - Gene Expression

Flashcards

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What is a gene?

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What is a gene?

A length of DNA on a chromosome that

codes for the production of one or more
polypeptide chains and functional RNA.

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What is meant by the term genotype?

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What is meant by the term genotype?

The genotype is the genetic makeup of

an organism which includes the different
alleles which the organism possesses.

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Define the term phenotype

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Define the term phenotype

An organism’s observable
characteristics. It is determined by the
interactions between the genotype and
the environment.
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What are alleles?

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What are alleles?

Different versions of the same gene

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What is a dominant allele?

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What is a dominant allele?

A version of a gene where only one copy

is needed for it to be expressed

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What is a recessive allele?

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What is a recessive allele?

A version of a gene where two copies

are needed for it to be expressed

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What is meant when an organism is
homozygous?

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What is meant when an organism is homozygous?

When an organism has two copies of the

same allele (two recessive or two
dominant)

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What is meant when an organism is
heterozygous?

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What is meant when an organism is heterozygous?

When an organism has two different

versions of the same gene (one
dominant and one recessive)

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What is codominance?

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What is codominance?

Two dominant alleles that both contribute

to the phenotype, either by showing a
blend of both characteristics, or the
characteristics appearing together
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What is an autosome?

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What is an autosome?

A chromosome that is not an X or Y

chromosome

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What is a sex chromosome?

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What is a sex chromosome?

A chromosome that determines the sex of

an organism, e.g. X and Y chromosomes in
humans and other mammals

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Define monohybrid inheritance

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Define monohybrid inheritance

Where one phenotypic characteristic is

controlled by a single gene

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What do family pedigrees show?

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What do family pedigrees show?

The inheritance of an allele over multiple generations

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What is a sex-linked characteristic?

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What is a sex-linked characteristic?

- A characteristic where the gene responsible for

its located on a sex chromosome
- This makes it more common in one sex than
another

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Give one example of a sex-linked trait

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Give one example of a sex-linked trait

Red/Green colourblindness is a
sex-linked trait as it is inherited on the X
chromosome and so much more
common in males
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What is red/green colour blindness?

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What is red/green colour blindness?

An X-linked genetic condition which

results in an inability to distinguish
between red and green due to a lack of
red or green photoreceptors
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 Why is red/green colour blindness
significantly more common in males?

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Why is red/green colour blindness significantly more
common in males?
- The faulty gene which causes red/green colour
blindness is located on the X chromosome
- Males only inherit one copy of the X chromosome
and so they cannot inherit another non-faulty copy
of the gene

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What is cystic fibrosis?

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What is cystic fibrosis?

An inherited autosomal recessive genetic condition

which impairs the functioning of the gaseous
exchange, digestive and reproductive systems by
producing a faulty copy of the protein involved in the
production of mucous, digestive juices and other fluids.

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What is the genotype of individuals with
cystic fibrosis?

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What is the genotype of individuals with cystic
fibrosis?

Homozygous recessive (ff)

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What is the genotype of carriers of cystic
fibrosis?

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What is the genotype of carriers of cystic fibrosis?

Heterozygous (Ff)

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A female who is homozygous recessive
for cystic fibrosis (ff) has a child with a
heterozygous male (Ff). Draw a punnett
square to illustrate this inheritance

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A female who is homozygous recessive for cystic fibrosis (ff)
has a child with a heterozygous male (Ff). Draw a punnett
square to illustrate this inheritance

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 Draw a Punnett square for a cross
between two heterozygous cystic fibrosis
carriers (Ff)

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Draw a Punnett square for a cross between two
heterozygous cystic fibrosis carriers (Ff)

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What is meant by genetic screening?

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What is meant by genetic screening?

Determining if an individual’s DNA

contains a certain allele, usually one that
may result in a genetic disorder. This can
allow prenatal diagnosis, and for
treatment to be started earlier
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What is pre-implantation genetic
diagnosis (PGD)?

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What is pre-implantation genetic diagnosis (PGD)?

The determination of genetic diseases

during in-vitro fertilisation (IVF) before
implantation of the embryo into the
uterus
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Describe the process of chorionic villus
sampling

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Describe the process of chorionic villus sampling.

A sample of embryonic tissue is taken

from the placenta at around 8 to 12
weeks of pregnancy. It is screened for
various disorders and results are
available quickly
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Describe the process of amniocentesis

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Describe the process of amniocentesis

A sample of amniotic fluid is taken at

around 14 to 16 weeks of pregnancy.
The foetal cells have to be grown for 2-3
weeks before screening can take place,
meaning results are slower than CVS
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 Give some social and ethical issues
surrounding prenatal genetic screening

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Give some social and ethical issues surrounding
prenatal genetic screening
● Procedures carry risk of harming foetus
● May result in abortion, which many people
object to
● High cost of bringing up a baby with a genetic
disorder
● Emotional and mental stress on parents
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What is genetic screening?

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What is genetic screening?

A method of testing an individual's

genome for faulty alleles that may make
them more susceptible to certain
diseases and disorders
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Outline how genetic testing can be used
to improve healthcare (3)

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Outline how genetic testing can be used to improve
healthcare (3)
● Enables awareness of potential risks and the introduction
of lifestyle changes to reduce these associated risks
● Enables early treatment plans to begin
● Prediction of a patient’s reaction to certain drugs -
‘personalised medicine’

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Outline the drawbacks of using genetic
testing in healthcare (2)

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Outline the drawbacks of using genetic testing in
healthcare (2)

● Discrimination by employers, insurance firms

etc. if a person is likely to develop a disease

● Person may develop anxiety, depression, etc

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