1/5/16 Starter: What is a “silent” point mutation, and what impact does it have on a point? What is an example? 1/5/16 Mutations and Pedigrees Application: Pedigree example Ws Connection/Exit: Your cousin has hemophilia but no one else in your immediate family does. How could you go about finding where he/she got this disease? Practice :Explain Non-disjunction EQ: How does DNA and RNA control the structure and function of cells and of entire organisms?

January 5, 2016 AGENDA B.6 E Students will Identify and illustrate changes in DNA and evaluate the significance of these changes. by reading and writing during an activity. 1 Starter 2. Activity

Date Lecture/ Activity/ Lab Page 12/10 Say it With DNA Activity /14 Mutations /15 Mutations /7 Mutations and Pedigrees Table of Contents

Changes in DNA

Non-Disjunction Ex: Trisomy 21 or Down Syndrome Sometimes, there is an error in meiosis when egg or sperm cells divide resulting in too many or too few chromosomes. How do you think this type of change would impact an organism? Causes an abnormal number of chromosomes and often results in genetic disorders (ex. Down Syndrome, Turner’s Syndrome, Triple-X Syndrome). This can also result in death of the fetus. karyotype

Mutation Impact The impact of a mutation on an individual also depends on where and when it occurs. If there was a mutation in the DNA of a zygote, how would that impact the individual? How might a mutation in a skin cell affect an individual?

Pedigree Charts Pedigree charts are like a genetic family tree. They can use family information to trace genetic conditions that have been passed along in the family (genetic conditions caused by mutations). Genetic counselors use them to help people analyze their family history and determine the probability of them having or passing on a particular condition (mutation).

Pedigree Chart Symbols Empty Square = male Empty Circle = female Filled/Darkened Square = affected male Filled/Darkened Circle = affected female Square/Circle with Slash through = deceased individual

Pedigree Chart Example Sex-linked- Mostly seen in males Autosomal- Affects males and females equally

Pedigree Analysis in real life Keep in mind that pedigrees don’t always give the pattern of inheritance – many factors (like the environment or multiple genes) might be involved!!

CHALLENGE #1 What is the pattern of inheritance? _______________ What are IV-2’s odds of being a carrier? __________

CHALLENGE #2 What is the inheritance pattern? _________________ How do you know? ____________________________ __________________________________________

CHALLENGE #3 What is the inheritance pattern? __________________ Identify the carriers: ___________________________ How many children did I-1 and I-2 have? _____________

1/5/16 Starter: What is a “silent” point mutation, and what impact does it have on a point? What is an example? 1/5/16 Mutations and Pedigrees Application: Pedigree example Ws Connection/Exit: Your cousin has hemophilia but no one else in your immediate family does. How could you go about finding where he/she got this disease? Practice :Explain Non-disjunction EQ: How does DNA and RNA control the structure and function of cells and of entire organisms?