Genes and Patterns

of Inheritance
Define the following
• Gene
• Allele
• Genotype
• Phenotype
• Recessive
• Dominant
• Codominance
• Homozygote
• Heterozygote
Genetic Crosses and
Pedigree Diagrams
Inheritance of disease – Huntinton’s
Huntington’s disease
•Huntington’s disease is an inherited disorder
that affects the nervous system.
•Affects muscle coordination and leads to
cognitive decline and dementia.
•It is caused by a dominant allele.
•This means it can be passed on by just one
parent if they have the disorder.
•Can you work out the crosses between One
carrier parent and one sufferer.
 A Family Pedigree
Below are the members of a family. Some members suffer from the genetic disorder. In order for the
member to suffer from cystic fibrosis both the person must have both recessive alleles (cc). Complete
the blank spaces using the information below.

Unaffecte Affected Affected c Affected

d Male Male Feale c Female

C
cc
c
________ Sarah
_

_ ___ c
Cc Cc
_ _ c
________ James Esme ________
Tom
_ _

___ c _
cc _
_ c
Jeff Edd ________ Sally
_
•Tom is married to Ginni.
•Tanya had a homozygote genotype for the recessive allele, therefore she has cystic fibrosis.
•Frank has a homozygote genotype for the recessive allele.
•Carl has a heterozygote genotype.

Jeff marries a woman called Louise who is a carrier of the genetic disorder (Cc). The two if them
have a daughter called Elise. What is the probability that (1) Elise suffers from the genetic
disorder, and (2) is a carrier of the genetic disorder. Draw a Punntet Square to illustrate your
answer.
 Cystic Fibrosis
Cystic fibrosis is an inherited disorder that
affects the cell membranes, causing the
production of thick and sticky mucus. It is
caused by a recessive allele. This means that
it must be inherited from both parents.
Can you work out the crosses between carrier
parents

Notice that the offspring with Ff are labelled 'carriers'. A carrier has one copy of the faulty allele, but
does not have the disorder themselves. In this example above, both parents are carriers. They may
not know they are, but there is a one in four chance of them producing a child who has cystic fibrosis.
It is possible to screen embryos to see if they carry alleles for genetic disorders.
Cystic Fibrosis

In the example, one parent is a carrier, while the

other does not carry the allele for cystic fibrosis.
They cannot produce a child with the disorder, but
they can produce children who are carriers.
Cystic Fibrosis
• Cystic fibrosis is an inherited recessive disorder that is caused by a mutation in the gene that codes for the
CFTR protein. There are over 1000 different mutations of this gene that have been discovered.

• A change in the sequence of the gene leads to a different sequence of ……..……. …………… in the …………………
This can lead to a non-functional CFTR protein. The role of a functional CFTR protein is to transport
………………………. ions across a membrane to outside the cell, this then causes water to follow by the process
…………………….., this leads to dilute mucus lining the cell. If the protein is faulty no …………………. ions move
out of the cell, and therefore neither does ………………… The mucus on the outside of the cell will be
…………………….. and ……………………., the …………….. will be unable to move the mucus.

• The CFTR protein is found in many places within the body and therefore a non-functional protein affects
many different body systems. Explain the symptoms that occur in each of the systems in the table:
Cystic Fibrosis the genetic disorder
• Cystic fibrosis is a disorder that affects plasma membranes
• This is a genetic disorder caused by a recessive faulty gene
• One in ever 25,000 children are born with the life long
condition
• The disease is common amongst Europeans and Ashkenazi
Jews
• One in 22 European descendants carries the gene
• There is currently no cure for the condition, yet I can be
treated
• Recent advances in treatment for the condition mean that
most babies born with condition will live into their mid
forties, living a relatively normal lives
Plasma Membranes
• Plasma membranes contain carrier proteins
• These actively transport ions across cell plasma membranes
CFTR
• One of the carrier proteins is the CFTR carrier protein
• Cystic fibrosis transmembrane conductance regulator
• This is made by the CFTR gene
• It transports chloride (Cl-) ions across membranes
The Normal Trachea
• Goblet cells in the trachea produce mucus
• This mucus is moved up the trachea into the mouth by
cilia by the ciliated epithelial cells
• Chloride ions are activity transported by the CFTR carrier
protein into the mucus
• This lowers the water potential in the mucus
• As a result water moves into the mucus by osmosis from
the trachea cells
• The mucus is sticky enough to prevent bacteria and other
dirt entering the lungs, but thin enough to be easily
moved into the mouth by the cilia
CFTR in Cystic Fibrosis
• When people have the faulty allele for the cystic fibrosis
the CFTR carrier protein does not work properly
• This CFTR has a different tertiary structure to the normal
• As a result the CFTR doesn’t carry chloride ions
• This means that the water potential in the mucus remains
high, water does not move in
• Consequently the mucus is very thick and sticky
• The ciliated epithelial cells cannot move the sticky mucus
up into the mouth
CFTR in Cystic Fibrosis
Symptoms of Cystic Fibrosis
What do you think the symptoms of
cystic fibrosis could be?

What would be the affect of mucus

build up?

What could happen if entering bacteria

were not removed from the lungs?
Body System Explanation of Symptoms

Respiratory System  
 
 
 

Digestive System  
 
 
 

Reproductive System  
 
 
 
Symptoms of Cystic Fibrosis
• Stick mucus cannot be easily removed from the
trachea by the cilia. This causes it to build up
• As a result cystic fibrosis sufferers develop persistence
cough and wheezing
• They can experience shortness of breath and other
breathing difficulties
• This mucus can also build up the in bronchioles
Lung Infections
• The mucus still catch bacteria and other infections, as it is
meant to, but this bacteria is not removed
• Consequently cystic fibrosis sufferers often develop lung
infections, these can be very serious
• This can be treated with antibiotics, but can lead to
addiction
• Immune responses, phagocytes, move to the lungs to
remove of the infection
• However this can damage the lungs over a long period of
time, as they clump together and reduce surface area
Cystic Fibrosis in other systems
The faulty CFTR can affect other systems
Digestive
• Thick mucus blocks the pancreatic duct
• As a result enzymes cannot reach the digestive system, so
food is not digested properly
• In addition many cystic fibrosis suffers develop pancreatitis
Reproductive
• Thick mucus blocks ducts carrying gametes
• This leads to infertility – specially in males
Sex Linkage
Sex linkage occurs when the genes for a certain characteristic are carried on
the sex chromosomes.

They do not determine the sex of the organism, they just happen to occur on
the sex chromosomes.

The Y chromosome is shorter than the X chromosome, so it carries fewer

alleles.
The allele for colour vision is carried on the part of the X chromosome that
is missing from the Y chromosome.

There is a recessive allele that causes colour blindness.

Females inherit 2 alleles for colour vision, one on each X chromosome, if

they inherit one faulty allele, they are unaffected.

Males only inherit one allele from their mother, if they inherit the faulty
allele they are colour blind.

As a result, colour blindness is more prevalent in males.

Haemophilia is another example of sex linked inheritance, where females
can be unaffected carriers, but males will suffer from the disease if they
inherit the faulty allele.

Normal Carrier

Gametes XH Xh
XH X HX H X HX h
Y XH Y Xh Y

Normal Sufferer
Questions

1. The genotype and phenotype of certain cat coat colours are shown in the table:

Phenotype Genotype
Male Female
Black XgY XgXg
Ginger XGY XGXG
Tortoiseshell - XGXg

A breeder has a number of black, ginger, and tortoiseshell cats.

a) If she wants all the female kittens to be tortoiseshell, what are the genotypes
and phenotypes of the parents she should use?

b) What will be the phenotypes of the male kittens in the crosses you have
suggested?
2. In a certain species of mouse, yellow fur (Y) is dominant to grey fur (y).
If two yellow mice are mated the ratio of offspring is always 2:1 yellow: grey,
Why is this?