What is a mutation and what can it cause? What is a genetic disorder? EQ: What are Genetic Disorders?

Genetics of Cancer

Mutations Change in dna. Error when copy Damage from sun or chemicals

So what is a Genetic Disorder When something is wrong with your genetic code that leads to an abnormal trait. Inherit a bad gene that codes for a disorder. Chromosomal abnormalities Or genes get damaged over a lifetime.

Mutations and Genetic Disorders DNA controls our triats. Mess up DNA you mess up traits When your genes code for an abnormal trait it is called a genetic disorder. Example, Gene for blood cell shape changes and blood has sickle cell shape.

Cancer The gene that controls cell growth gets mutated. Inherited gene Damaged gene Sun smoking Cell no longer can control its growth. Out of control growth is cancer! Damages surrounding cells Stresses organs.

http://learn.genetics.utah.edu/content/tech/cloning/whatiscloning/scnt.html

Genetic disorders are caused by mutations, or changes in a person’s DNA. Usually in the parent cell, that way all offsprings dna has mutation.

Carrier How is it possible to have the gene and not the disease? What do we think carrier means? Have the gene but not the disease

Cystic fibrosis Lungs Make Mucus Fills lungs making hard to breath Bacteria grow in mucus. Recessive allele Originated in northern europe

Figuring it out.

Hemophilia Blood clots slowly No gene for blood clot proteins. Bleed to death from paper cut. Recessive on x chromosome. More likely in males. People have to get supplements of blood clot proteins. bb

Huntingtons Disease Dominant allele 50 percent chance of passing Cell rots away.

Down Syndrome Extra copy of a chromosome Error in parent cells, one parent gives two instead of one. Causes similar appearance Mental retardation No cure

Cri-Du-Chat Larynx doesn’t develop right Respiratory problems Skeletal and muscular problems. Causes Missing piece of DNA Chromosome breaks during Meiosis 1 in 20,000 and 1 in 50,000 babies

Punnett Square for Sex Linked XX= Girl XY = Boy Add a symbol to X or Y to mark Trait. X’ or Y’ Ex. For hemophilia which is recessive on X. X’=hemophilia X’ X X=Normal Y= No effect. X Y can’t Cover up X’ Y 1 Carrier Girl 1 Normal Girl 1 Affected Boy 1 Normal boy

Sex Linked

Diagnosing Disorders Karyotype A diagram that shows all of your chromosomes.

Gene Therapy Using genes to treat diseases Add healthy genes. Add DNA to make missing protein, Retroviruses, Virus spreads through body and delivers healthy dna.

Review Questions What happens to people with cystic fibrosis? Why would someone with European ancestry be more likely to have it? How could two healthy parents have a baby with cystic fibrosis? Hemophilia: Hemophilia is recessive and appears on the X chromosome. What happens with people having hemophilia? If you mother has the hemophilia gene and your dad has two healthy genes what are the odds that you will have hemophilia? Why would a boy be more likely to have hemophilia? For down syndrome why doesn’t it matter what genes your parents have? Why doesn’t cancer usually appear until your older?