P4: Explain the key principles of genetics using

examples relating to inheritance in humans.

Term Definition
Allele An allele is one of a pair of the same gene from
each parent.
Gene A gene contains one type of genetic information
Dominant A gene that is more likely to be passed onto offspring
Recessive A gene that is less likely to be passed onto offspring
such as blue eyes
Variation Genetic variation describes the biological diversity
in life
Genotype The combination of alleles with the corresponding
chromosomes which make up a cell.
Phenotype An observable visible characteristic of a gene, for
example hair colour, eye colour,

How many genes control each characteristic?

One

Why?

What if the genes are different?

Then only one gene will be passed on.

If red hair is recessive, how many copies of the gene are

required for an individual to have red hair?
One for a 1 in 3 chance, two for a near definite chance.

Complete the table to show the possible phenotypes from

the following cross. Read haired woman (rr) and a black
haired man (Rr)

r
R
r Rr rr

r rr
Rr
Find out about the symptoms and inheritance of:

Symptoms of Cystic fibrosis

Troubling cough and wheeze, Recurring chest and lung

infections, due to the mucus clogging your digestive system.

Clubbed fingers and toes - 'clubbing' is where the ends of the

fingers and toes become swollen and rounded. Polyps inside

the nostrils Large, odorous stools Salty tasting skin

Symptoms of Phenylketonuria

Phenylketonuria (PKU) is a metabolic disorder caused by a deficiency of the

enzyme phenylalanine hydroxylase.

If untreated, the interrupted metabolism of dietary phenylalanine results in

accumulation of the amino acid in body fluids with resultant, progressive,
irreversible mental retardation.
Symptoms of Sickle cell anaemia

Sickle cell is when the red blood cells sometimes change to a

cresent shape for no apparent reason. This causes the person

intense pain, and a possible (near) death experience as the blood

cells block the arteries. Such people have to be hospitalised once

the condition becomes so bad.

Both parents need sickle cell to pass it on, and one parent for the

child to be a carrier. For sickle cell, the children will only get

sickle cell if both.

s Ss ss
Symptoms are pain
s ss
trying to breathe. Ss

 Symptoms of Haemophilia
This is when blood fails to clot. Haemophilia is a rare inherited

bleeding disorder in which the blood does not clot normally. Persons

with haemophilia may bleed for a longer time than others after an

injury or accident. They also may bleed internally, especially in the

joints (knees, ankles, and elbows).

Make sure you include punnet square diagrams.

See the table above
References
http://www.answers.com/topic/gene
http://www.acfacat.com/genetics.htm
http://www.cysticfibrosismedicine.com/htmldocs/CFText/genetics.ht
m

http://www.accessexcellence.org/RC/VL/GG/x-linked.php
http://www.medic8.com/healthguide/articles/haemophilia.html
http://www.healthscout.com/ency/68/560/main.html
http://www.newbornscreening.info/tools/GraphicsLib.html