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What is a mutation?

„ Any change in DNA

„ Any abnormal change in genetic material.
Mutations Some can be inherited by the next
The process by which the sequence
of base pairs in a DNA molecule is
Remember that genes are located in DNA!!!

What causes a mutation? Types of mutations

1.) Changes in the environment OR „ Point mutations
mutagens small (but significant) changes, often in
a. ultraviolet radiation a single nucleotide base.
b. pollutants and chemicals „ Deletions
c. tar from tobacco
remove information from the gene. A
deletion could be as small as a single base
2.) Errors during replication, transcription, or as large as the gene itself.
or translation

Types of mutations Guess which type of mutation..

„ Insertions Normal:
occur when extra DNA is added into an As the man saw the dog hit the can end it is
existing gene.

As the man saw the doT hit the can end

„ Frame Shift
when either addition or deletion of one or two Point mutation
nucleotide bases. When this occurs, the “reading
frame” is changed so that all the codons read As the man saw thehit the can end
after the mutation are incorrect.

Guess which type of mutations… Disorders that result from mutations
As the man saw the FAT dog hit the can end „ Sickle Cell Anemia
insertation „ PKU
„ Cystic Fibrosis
As the man saw the ogh itt hec ane nd it is

SICKLE CELL ANEMIA Phenylketonuria (PKU)

„ Sickle cell anemia is a hereditary disease „ Inherited disorder that causes a lack of the
that causes red blood cells to be shaped enzyme that metabolizes phenylalanine
like moons. (an amino acid).
„ It is due to a single nucleotide sibstitution. „ Results in a build up of phenylalanine and
„ This results in a single amino acid effect the central nervous system.
substitution in the hemogloblin molecule.

CYSTIC FIBROSIS How else do mutations occur?

„ Affect mucus and sweat glands of the body „ Errors can occur in the processes of Mitosis or
and is caused by a defective gene. „ This is NOT hereditary…. Its just a mistake in
„ Thick mucus is formed in the breathing procedure!!
passages of the lungs
„ This is called NONDISJUNCTION
„ Predisposes the person to chronic lung
infections „ The chromosomes fail to separate so you get
some homologous chromosomes migration over
together instead of separating.

„ If this happens you get sex cells like this: „ When the egg and sperm cell come
together ….
„ sperm cellegg cell
„ You get a baby with 47 chromosomes!
24 „ All the homologous chromosomes pair up
23 chromosomes
chromosomes and but you get one group of 3!

Where is the extra chromosome?

„ Example:

„ Trisomy 21 (Down’s syndrome)

„ Person will develop ALL cells with 47
chromosomes….they will have 3
chromosome # 21

Edwards Syndrome
„ It is like they stop developing …. „ holes in the heart that don't close
„ their brains are not properly developed „ openings in the back (spina bifida) and
certain neurons don't make it all the way to stomach (omphalocele)
the outside of the brain but remain in little clusters
throughout the brain. „ organs that are not properly formed.
This means that they will frequently have „ Additionally, Trisomy 18 babies are usually
problems doing basic, instinctive, functions like small, as if they stopped developing and
sucking, swallowing, and breathing. growing about the 7th month in utero.