HW: Quiz Tuesday!!Castle learning: genetics 2 and 4

Mutation

When you hear the word mutation what words do you think of?

A Change

Alternation

Abnormal

Mutation:Any change in the DNA

sequence that also changes the protein it codes for.

Mutation

Mutations in DNA can happen through two causes

1.) Damage from environmental agentsAka mutagenic agents

Ultra Violet Light

Toxic Chemicals

X-Rays

2.) Mistakes made in replication of DNA during cell division

DNA Strands are copied

during_____________Mitosis

What could go wrong?

This single Base exchanged in the DNA is known as point mutation

ATT GCC

ACT GCCAfter Replication in nucleus

What happens to the

protein?_____________________________Forms with different amino acids

THE DOG BIT THE CAT

THE DOB ITT HEC ATDeleted letter G

Added the letters A & Z

THE DOB ITT HEC ATA ZFrame Shift MutationWhen one or more bases are deleted or inserted into the newly copied DNA strand

Complete Quiz

is a disease that is caused by an abnormality in an

individual's DNA (mutations).

Abnormalities can range from a small mutation in a single gene to the addition or subtraction of an entire chromosome or set of

chromosomes.

These disorders result when a mutation causes the protein product of a single gene to be altered or missing

Examples: Galactosemia and Cystic Fibrosis

Galactosemia is a rare disorder that affects the body's ability to break down a food sugar called galactose (found in milk and other dairy products).

In these disorders, entire chromosomes, or large segments of them, are missing, duplicated, or otherwise altered

Examples: •Sickle Cell Anemia,•Turner’s syndrome,• Huntington’sDisease, •PKU,•Down’s syndrome,• Klinefelter’s syndrome

Chromosomal Mutations

1.) Gene duplications leading to multiple copies of same gene located within the chromosome.

2.) Deletions of large chromosomal regions, leading to loss of the genes

3.) Chromosomal inversions: reversing the orientation of a chromosomal segment. Gene

P Gene Q

Gene QGene P

4.) Chromosomal translocations: interchange of genetic parts from non-homologous chromosomes.

downs animation

Down syndrome is a developmental disorder caused by an extra copy of chromosome 21 called "trisomy 21". Having an extra copy of this chromosome means that each gene may be producing more protein product than normal.

is caused by a missing or incomplete X chromosome. People who have Turner syndrome develop as females. The genes affected are involved in growth and sexual development, which is why girls with the disorder are shorter than normal, inability to produce egg cells and have abnormal sexual characteristics.

Klinefelter syndrome is a disorder that affects only maleshave an extra X chromosome (XXY)

giving them a total of 47 instead of the normal 46 chromosomes.

PKU Phenylketonuria affects the way the body breaks

down proteinIf not treated shortly after birth,

PKU can be destructive to the nervous system, causing mental

retardationPKU is caused by a mutation in a

gene on chromosome 12

Williams syndrome affects a child's growth, physical

appearance, and cognitive development.

People who have Williams syndrome are missing genetic material from chromosome 7, including the gene

elastin. Huntington’s disease destroys cells in part of the brain that controls movement, emotion,

and cognitive ability. HD is caused by a mutation in a

gene on chromosome 4.

Disorders that result from mutations in multiple genes, often coupled with environmental causes.

Examples: Colon, Breast, Ovarian Cancers,Hypothryoidism, Alzheimer’s

Six-Legged Boy suffering from Polymelia

Polymelia

• The disorder occurs in the womb when the cells form abnormally during embryonic development and the embryo begins to develop as conjoined twins, but later stops developing and leaves remaining developments of the disintegrated fetus attached to the body of the other.

• The extra limbs and legs were the result of a genetic disease which would affect only one in a million or more babies.

Polymelia

• Doctors had to first examine MRI, blood tests and CT scan reports to determine which of the legs belonged the boy and which to his parasitic twin before the operation

After Surgery