ALBINISM

Greer Manton, Sydney Gilbert &

Monica Starbinski

2/1/10 – Period 2
Please be respectful during this
PowerPoint. The photos you may see
today are unlike many others. Keep in
mind that they are of real people, and
you never know if someone has a
person close them that has this.

Thank You,
Sydney, Monica and Greer 
 What Chromosome?

•Albinism is a genetic order, which is caused by a

gene on the ninth X (female) chromosome.
 Alleles
• Alleles – an alternative form of a gene, which is
located on a specific part of a certain
chromosome.
• 2 alleles per human gene.

Recessive (aa): Dominant (AA, Aa):

-trait will only appear -overpowers the
if a dominant allele is recessive allele.
not present. -heterozygous
-homozygous
 Summary Of Albinism
• Albinism – a rare, inherited, disease that you are born with,
causing a lack in pigment or melanin. Usually, the person’s hair,
eyes, and skin are affected.
• Symptoms –
Extremely light colored skin
light/white colored hair
pale blue/grey eye color, sometimes even pink
very high risk of sunburn and skin cancer
vision problems
*Interesting Facts*
There is no cure for Albinism, but precautions can be taken
to alleviate the symptoms.
- Staying out of the sun
- contacts or seeing an optician
 Mode Of Inheritance

•Albinism is recessive.
• A male would have to inherit one affected X
chromosome and females would have to inherit two
affected X chromosomes to have the disorder.
• It is not dominant because you do not get it every
time, if one parent is a carrier. Both parents must
contain the gene, whether they have the disease or
not.
• It is autosomal because you need two copies of the
affected gene in order for albinism to occur.
 Punnett Squares
A – dominant (normal gene)
a – recessive (affected albinism gene)
a a a A
A Aa Aa A Aa Aa

A
a Aa Aa
aa aa
a A

a aa Aa

A Aa Aa
 Probabilty a A

A Aa AA
• Ratios
a aa Aa
1 : 2 : 1
1aa : 2Aa : 1AA

• Percentages
25% : 50% : 25%
25% aa : 50% Aa : 25%AA
 Genotype and Phenotype
a A
Probability
A Aa AA

• Phenotype a aa Aa
-Ratios – 3 no albinism : 1
albinism
-Percentages - 75% no albinism :
25% albinism
• Genotype
- Ratios – 1AA : 2Aa : 1aa
- Percentages – 25%AA : 2Aa :aa
Key
White – Healthy Hypothetical Pedigree
unaffected person. May
carry one albinism gene.
Orange – Affected with
albinism, has two of the Laura Jonathon
damaged genes
Star – female
Rectangle - Male

Andrew Leah Emma Nick Claire

Ashley Mary Max Kim

George
 Meaning of the Albinism Punnett
Square
• AA – means that both genes are normal and they dominate.
Aa – means that one gene is normal and one is affected with
albinism. But since there is a normal gene that is dominant, it
overpowers and the person is unaffected.
aa – means that both genes are affected and the person has
albinism
• Phenotype (what is SEEN)
if AA then normal brown hair is present
if Aa then normal brown hair is present but the person is a
carrier of the white hair gene
if aa then the person has white hair.
• Genotype (what is in the GENES)
AA – Homozygous Dominant
Aa – Heterozygous Dominant
 Student Practice

a A Genotype:
2 albinism : 2
Ratio –
no albinism
a aa Aa Percentages –
50% albinism :
50% no albinism
Phenotype:
Ratio – 2 aa : 2 Aa
a aa Aa Percentages –
50% aa : 50%
Aa
Hypothetical Pedigree (Student Practice)
•Choose a Female and a
Key: Male
•Who is married to who
•Pick 2 colors. •The children they have
•One for non
•And probability of them
effected
•One for affected being affected.

The Rest is up to you! 

Pedigree Question and Answer:
1. How many affected parents are needed to
produce a child with albinism? –
Two parents both with the
affected gene.
2. What are the chances that the next generation of
children will get albinism if only one parent has
the bad gene? - no chance.

3. If both parents carry the gene what’s the chance

that the child will not get albinism? - 50% chance