Fri 2/8

• Test-Chp.9 today• INB Check 2 • Chp.12 Title Page

Pg.35

Title page for chp.12• Chp. title• 3 pictures—having to do with topic of chp.• 3 colors• 3 key words

Mon 2/10

• Objective: Investigate patterns of human inheritance.

• Cornell Notes – Human Inheritance• 3-Column Vocabulary

In: pg 36

Scientists often refer to Mendelian genetics.

What are 3 rules Mendelian genetics must follow?

1.

2.

3.

Mendel’s Conclusions (Review)1. Recessive and Dominant factors• 1 trait always shows up if present (dominant)• 1 trait can be hidden by the dominant factor

(recessive)2. Law of Segregation-each parent has 2 factors

for each characteristic. They only give one of these factors to each offspring.

3. Law of Independent Assortment-each parent has many characteristics to pass on to each offspring. The inheritance of one characteristic doesn’t affect the inheritance of a different characteristic.

Chp.12-Inheritance Patterns & Human Genetics

Pg.37 – Set up Cornell Notes

Human Karyotype• Karyotype-picture of all the chromosomes of an individual.

• Humans have 23 pairs of homologous chromosomes.– Autosomes

• Pairs 1-22

– Sex Chromosomes• Pair 23• Determine your gender• Males=XY

Females=XX• Eggs only carry the X

chromosomes, sperm carry X or Y.

Down’s Syndrome-Trisomy 21

Klinefelter’s = XXY

Simple vs. Complex Inheritance

• Simple inheritance is like Mendel’s experiments—2 alleles, one dominant and one recessive.– Often called Mendelian

inheritance.

• The inheritance of one trait doesn’t effect the inheritance of another trait

• Complex patterns of inheritance do not follow this pattern.

Types of Complex Inheritance

1. Incomplete and codominance2. Polygenic traits3. Multiple allele traits4. Complex characters5. Sex Influenced traits6. Linked genes7. Sex-linked traits

Remember: these do not follow Mendelian inheritance!!!

1. Incomplete and codominance• Incomplete-

heterozygotes have a blend of the 2 alleles.

– Tay Sachs disease– TT=normal production

of lipid metabolizing enzyme.

– tt=no enzyme– Tt=1/2 of the needed

amount of enzyme• Codominance-both

alleles show up in heterozygotes.

– Sickle cell anemia

2. Polygenic traits

• Polygenic traits are controlled by more than one gene pair.

• Such traits produce a bell-shaped curve.– In humans, these

include height, skin color and hair color.

3. Multiple Allele Traits

• Multiple alleles-when more than two different alleles exist for a trait.

• Example: Human Blood Type–Has 3 possible alleles (A,B,O)– A person only gets 2 of these alleles.

• A and B are codominant.• O is recessive to A and B• AA/Ao=type A • AB=type AB • BB/Bo=type B• oo=type O

Inheritance of blood type

IA

IB

IB io

IAIB IAio

IBIB IBio

4. Complex characters

• Influenced by environment and genes.– Cancer, skin color,

height

5. Sex Influenced traits

• Males and females show a different phenotype when they have the same genotype.– Male pattern baldness

6. Linked traits

• Traits that tend to be inherited together because they are close together on the chromosome.

7. Sex-linked traits

• Autosomal genes-found on the autosomes(1-22)

• Sex-linked genes-Genes carried on the X or Y chromosome (Pair 23).– These genes code for sex-linked traits.– X-linked traits are more common than Y-linked traits

(the X chromosome is much larger)– Males get X-linked traits more commonly than

females because they have only one X chromosome. Recessives are NOT hidden.

Human sex-linked traits• Human sex-linked

diseases include colorblindness and hemophilia.

Red-green colorblindness• Recessive trait carried

on the X chromosome.• XR=normal vision• Xr=red-green colorblindFemales: XRXR XRXr XrXr

Males: YXR YXr

Finish Cornell Notes

• 3 questions in left column• 3 sentence summary at bottom

Pg.38-39 – Chp.12 3-Column Vocab

1.Autosome2. Sex chromosome3.Sex-linked trait4.Linked gene5.Complex character6.Polygenic

7.Multiple allele 8.Karyotype9. Incomplete

dominance10. Codominance11. Genetic disorder

Homework

• Finish 3 column vocab.– Due on Wed!!!!

Out pg.36

• Why are the topics we are studying in this chapter not considered “Mendelian Genetics”?

Male pattern baldness is not “Mendelian Genetics”

Tues 2/11

• Investigate patterns of human inheritance.

In: pg.40• Complete the critter diagram

Exceptions to Mendelian Inheritance

Pg.41: Hand Span Lab—Determining Polygenic Inheritance

• Your hand span = ____cm.• Complete class data on board• Data: Create a bar graph & glue in• Analysis Questions:

1.What does polygenic mean?

2.What should a graph of a polygenic trait look like?

3.How can you tell that a trait is polygenic based on phenotype?

Out – pg.40

• What are 3 human traits besides hand span that are polygenic?

Wed 2/12

• Investigate patterns of human inheritance.

In: pg.42

Why are X-linked traits often called male diseases?

Morgan’s Experiment-1910• Discovered sex-

linkage.• Drosophila• White eyes appeared

mostly in males.• XR= red eyes

Xr=white eyes.• Females=XRXR, XRXr,

XrXr

• Males=XRY, XrY

Pg.43

• Sex Linked Group Practice– Complete and glue in booklet

Pg.44: Gene Spy• Glue in as a flip

and complete

Pg.45: Who gets the money?

Glue in booklet and complete

Homework

• Finish Gene Spy and Who gets the money?

Out – pg.42

Color blindness is an X-linked recessive trait. Xb=color blind

1. Is it impossible for a woman to be color blind?

2. Give a specific example to support your answer!

Thur 2/13 & Tues 2/18

• Discuss various techniques for diagnosing genetic disorders.

In: pg.46Look at the karyotype below.• What are 3 “rules” for organizing

chromosomes into a karyotype?

1.

2.

3.

Pg.47

The Sticky Situation

Down’s Syndrome-Trisomy 21

Klinefelter’s = XXY

Pg.48 - Analysis Questions

1. What is the the abnormality in this karyotype?

2. What genetic disorder does this chromosomal abnormality cause?

3. What are the symptoms of this genetic disorder?

4. An abnormal # of chromosomes is normally caused by non disjunction. How does it cause an abnormal # of chromosomes?

5. Why do you think that Down’s syndrome is also called “Trisomy 21”?

6. What are 3 other genetic disorders caused by an abnormal # of chromosomes?

Pg.49 - Abnormal Human Karyotype

• Cut out the chromosomes and arrange them into a karyotype.

Homework

• Finish analysis questions

Out – pg.46

• All of the disorders we have seen result in trisomy(3 chromosomes instead of 2 in a homologous pair).

1. Do you think there are genetic disorders where the individual has 4 or more chromosomes instead of 2 in a homologous pair?

2. How would this happen?

Wed 2/19

• Explain how mutations occur at the gene level.

• Explain how mutations occur at the chromosomal level.

• Recognize that the sequence of nucleotides determines gene function.

In: pg.50

What causes mutations?

pg.51

Types of Mutation Chart-complete the chart as we go through the types of mutations

MUTATIONSChanges in DNA that affect genetic

information

What Causes Mutations?

• There are two ways in which DNA can become mutated:–Mutations can be inherited.

• Parent to child–Mutations can be acquired.

• Environmental damage• Mistakes when DNA is copied

Chromosome Mutations

Changes in number and structure of entire chromosomes

Nondisjunction = Changes in number and structure of entire chromosomes because a

chromosome fails to separate during meiosis

Chromosome Mutations

• Example: Down Syndrome– Chromosome 21 does not

separate correctly.– They have 47 chromosomes

in stead of 46.– Children with Down Syndrome

develop slower, may have heart and stomach illnesses and vary greatly in their degree of intelligence.

Sex Chromosome Nondisjunction

• Example: Klinefelter’s Syndrome– XXY, XXYY, XXXY– Male– Sterility– Small testicles– Breast enlargement

Sex Chromosome Nondisjunction

• Example: XYY Syndrome– Normal male traits– Often tall and thin– Associated with antisocial and behavioral problems

Sex Chromosome Nondisjunction

• Example: Turner’s Syndrome– X– Female– sex organs don't

mature at adolescence

– sterility– short stature

Sex Chromosome Nondisjunction

• Example: XXX– Trisomy X, Triple X– Female– Little or no visible differences– tall stature– learning disabilities– limited fertility

Chromosome Mutations

• Deletion: the loss of a piece of chromosome due to breakage

Deletion Example

• Cri-du-chat– Deletion of material on 5th

chromosome– Characterized by the cat-

like cry made by cri-du-chat babies

– Varied levels of metal handicaps

Chromosome Mutations• Inversion: a chromosomal

segment breaks off, flips around, then reattaches

Chromosome Mutations

• Translocation: a piece of one chromosome breaks off & reattaches to a non-homologous chromosome

Gene Mutations

• Point Mutations =– substitution, insertion,

or deletion of a single nucleotide which is a change that occurs within the DNA of a chromosome

Types of Point Mutations

1. Substitution = 1 nucleotide replaces another

• THE FAT CAT ATE THE RAT• THE FAT HAT ATE THE RAT

Types of Point Mutations

2. Insertion = 1 or more nucleotides are added to a gene

•THE FAT CAT ATE THE RAT•THE FAT CAT XLW ATE THE RAT

3. Deletion = 1 or more nucleotides in a gene are lost

•THE FAT CAT ATE THE RAT•THE FAT CAT THE RAT

Types of Point Mutations

Frameshift = shifts the reading frame of the genetic message so that the protein may not

be able to perform its function.

• Caused by:– Insertion

• THE FAT CAT ATE THE RAT• THE FAT HCA TAT ETH ERA T

–Deletion

• THE FAT CAT ATE THE RAT• TEF ATC ATA TET GER AT

Homework

.Finish Karyotype and analysis questions pg.48-49

Out – pg.50

1. What type of mutations can you diagnose with a karyotype- chromosome or gene level?

2. Justify your answer to #1.

Thur 2/20

• INB Quiz today – get out half sheet, #1-10• Explain how mutations occur at the gene

level.• Explain how mutations occur at the

chromosomal level.

In: pg.52

1. What type of mutation do you think happens most often?

2. Why?

Pg.53 - Types of Mutations Concept Map

• With a partner, use the labels from the envelope to create a concept map on the white board.

• Use your notes pg.51 as reference.• Copy the completed concept map into

your INB.

Homework

• Finish concept map

Out – pg.52

1. What type of mutation do you think would be more harmful—gene level or chromosome level?

2. Why?

Fri 2/21

• Explain how mutations occur at the gene level.

• Explain how mutations occur at the chromosomal level.

In: pg.54

1. T or F Mutations are changes in DNA.2. T or F Mutations are harmful to the

organism that has them.3. T or F All mutations are inherited.4. T or F Different alleles for a trait arise

because of mutations.5. T or F Mutations cause a change in the

organism because they change the protein that is coded for by the DNA.

Significance of Mutations• Most are neutral

• Eye color• Birth marks

• Some are harmful• Sickle Cell Anemia• Down Syndrome

• Some are beneficial• Atherosclerosis is principally a disease of the

modern age, one produced by modern diets and modern life-styles. There is a community in Italy near Milan whose residents don't get atherosclerosis because of a fortunate mutation in one of their forebearers. This mutation is particularly interesting because the person who had the original mutation has been identified.

Pg.55 - Read the articles and answer the following questions.

The Incredible Bulk1. What mutation does Wendy have?2. What is her phenotype like because of this mutation?3. Why do whippets that are heterozygotes for the mutation

have an advantage?4. Is this mutation neutral, helpful or harmful to whippets?5. Why are scientists interested in this mutation? All Blue-Eyed People are Related6. What did Danish researchers conclude about blue-eyed

people?7. What is the difference in the DNA between a brown-eyed

and blue-eyed person?8. Is this an example of a gene level or chromosomal level

mutation?9. How does the mutation cause blue eyes?10. Is this mutation neutral, helpful or harmful?

Homework

Out – pg.54

• A friend says “All mutations are harmful”. What would you say to them in response to this statement?

• Be NICE! Give examples!

3+ sentences

Mon 2/24

• Updated grades are posted on window!• Chp.12 Test and INB Check FRIDAY!!!

• Explain how mutations occur at the gene level.

• Explain how mutations occur at the chromosomal level.

In: Pg.56

1. What is one example of a genetic disease?

2. What makes a disease “genetic”?

Pg.57 - Genetic Diseases movie clip (7 minutes)

• Write down 3 facts as you watch

Pg.58 - Use table 12-1 in the textbook (pg.246).

Analysis Questions:1. What does it mean when a disease

is “autosomal dominant”?2. What are the symptoms of

Phenylketonuria?3. What affect does the mutation of

coagulation factor 8 have on a person with hemophilia?

4. Tay-sachs disease causes death in early infancy. How does this gene continue to exist if the people with the disease die before they have children?

5. Why do you think the breast cancer gene(BRCA1) is only found in 8% of breast cancer patients?

6. Why are there more autosomal diseases than sex-linked diseases?

Pg.59Genes and

Diseases Map

1. Glue in the table

2. Use the chromosome chart to find the disorders, then fill in the table

Homework

Finish analysis questions

Out – pg.56

1. If you had the gene for a genetic disease like cystic fibrosis, who do you think should have access to that information—your doctor, insurance company, employer, spouse, etc?

2. Why?

Tues 2/25

• Chp.12 Test and INB Check FRIDAY!!!

• Predict patterns of inheritance by employing Punnett squares, probability or pedigree analysis.

In: pg.60What are 5 rules for creating pedigrees?

Pedigree = a graphic representation of genetic inheritance

1.Shape: • circle = female ○ • square = male □

2.Shading: • shaded = show the trait ● ■• unshaded circles/squares = do not show the trait• half-shaded circle/square = carrier (heterozygous)

3. horizontal line = parents ○▬□

4. vertical line = offspring

5. Each row is a generation, with the most recent generation on bottom.

Pg.61 - Pedigree Activity

• With a partner, create the pedigree describe in the “Pedigree Activity” on the white board.

• Make sure you include a key!!!• Copy your final pedigree into your INB.• Glue in your copy of the info sheet

Homework

• Reminder: Test & Notebook Check are on FRIDAY!!!

Out – pg.60

1.What do all hemophilia sufferers have in common?

2.What do all hemophilia carriers have in common?

Wed 2/26

• Chp.12 Test and INB Check FRIDAY!!!

• Predict patterns of inheritance by employing Punnett squares, probability or pedigree analysis.

In: pg.62

• How can you tell if a disease is autosomal or sex-linked based on a Pedigree?(hint…look at the 2 examples below)

Pg.63

• Glue in and complete Pedigree Charts Practice sheet

After…get ready for notebook check on Friday!

Chp.12 (pgs.35-63)Table of ContentsVocab pg.38-39 (with pics)Gene Spy pg.44Who gets the $ pg.45Karyotype complete pg.49Karyotype Questions pg.48Incredible Bulk/Blue Eyes Questions pg.55Genes & Diseases Analysis Questions pg.58Pedigree Practice Sheet pg.63

OUT – pg.62

• Which type of inheritance will often skip generations?

Thur 2/27

• INB Quiz #4 Today get out half sheet #1-8

• INB check TOMORROW

• Chp.12 Test TOMORROW!!!

After…get ready for notebook check tomorrow!

Chp.12 (pgs.35-63)Table of ContentsVocab pg.38-39 (with pics)Gene Spy pg.44Who gets the $ pg.45Karyotype complete pg.49Karyotype Questions pg.48Incredible Bulk/Blue Eyes Questions pg.55Genes & Diseases Analysis Questions pg.58Pedigree Practice Sheet pg.63

Chp.12 Study Guide

• Complete on separate sheet of paper• Take home and study it!• Due Monday as separate grade!

Friday 2/28

• Collect Study Guides Any Questions???• INB Check #3• Chp.14, 15, 16 Title Page

Pg.65 (skip pg.64)

• Chp.14, 15, 16 Title Page–Write title of all 3 chapters–3 pictures (one from each chapter)–3 key words (one from each chapter)–3 colors