Pride And Joy Human Genetics Activity 2008 2009

Pride and JoyAP Biology Human Genetics and

Reproduction Activity

In this activity, you will explore concepts related to human reproduction and embryonic development over the nine months between the beginning of school and the AP exam in May. You will also learn to employ the principles of Mendelian and non-Mendelian inheritance to understand why offspring end up with the phenotypes and genotypes that they do. You will also determine the sex of your child by performing a karyotype. Using probability and chance, you will determine the blood type of your baby. You will also learn about human genetic disorders during this activity, as your child will inherit a genetic disorder during the course of the activity.

This activity will count as one test grade and one project grade in the 4th quarter due to the amount of work you will do and the number of concepts it covers. The following things will be turned in as a part of the grade:

1. Baby’s Nine Month Development Journal2. Baby’s Birth Announcement3. Baby’s Birth Certificate4. Baby’s Karyotype Sheet5. Karyotype questions6. Doctor’s Letter7. Genetic Disorder Report8. Special Needs Letter 9. Completed Parent Information Sheets for both parents 10. Completed Zygote Information Sheet11. Baby’s First Portrait12. Baby’s Genetics Problems Set

KaryotypingA karyotype is a picture of the chromosomes found in cells. These cells have been allowed to grow in culture, and then their growth is arrested at metaphase, when the chromosomes are most visible. These chromosomes are then photographed, and pairs made according to size and banding pattern. They are then arranged in order from largest to smallest. They are grouped with chromosomes of similar size and banding pattern and a picture of them is made that looks like this one:

AP Bio document.doc by Lee Ferguson, Allen High SchoolRevised by Dawn Berkeley 2008Page 1 of 35

from http://worms.zoology.wisc.edu/zooweb/Phelps/ZWK99004k.jpeg

From this picture, a doctor or geneticist can determine what the person’s sex is, and whether or not there are any apparent chromosomal abnormalities such as a deletion, translocation or duplication. Obtaining cells for fetal karyotyping is done using a procedure known as amniocentesis. During an amniocentesis, a needle is used to penetrate the mother’s uterus and a small amount of amniotic fluid is removed from the amniotic sac. Fetal skin cells are found in the fluid. The fluid is centrifuged and the cells separated from the liquid, removed and cultured as described above.

For the first part of this activity, you and your partner will be given a chromosome smear of your baby. You will then construct a karyotype from the chromosome smear, which will help you determine the sex of your child.

Karyotyping Procedure1. Get a chromosome smear and karyotyping form from your teacher. There should

only be one smear and form per pair of students.2. Using a pair of scissors, cut out each chromosome, leaving only a small margin

around each one. Your karyotype must be neat and clean looking when it is finished, and this will help ensure that it will be professional looking and easy to read.

3. Together, you and your partner need to match up the chromosomes you cut out based on their size and banding patterns. You need to arrange them so that they look somewhat like the example given above. Your karyotype may have extra chromosomes, or it may have some missing. It will depend on which smear you and your partner have picked out.

4. Carefully tape down the chromosome pairs to their appropriate spot on the karyotyping sheet. Use the grouping descriptions on the karyotyping sheet to help you place the chromosomes into the correct groups. Chromosomes should be laid down so that their centromeres are centered on the line above the pair number and they should be laid down neatly before being taped down. DO NOT TAPE DOWN CHROMOSOMES UNTIL YOU ARE CONFIDENT THAT THEY BELONG TOGETHER AND THAT THEY ARE IN THE CORRECT ORDER!

5. When you are done, determine the sex of your child from the karyotype you have created. Record this information on your karyotyping form. Also note if there are


any chromosomal abnormalities. Be sure to do a good job, as this not only counts as a part of your test grade but will count as a lab grade as well.

If your child DOES have a chromosomal abnormality…You will need to do a little research about your child’s disorder so that you can adequately prepare for any special needs your child may have upon his/her arrival. You will need to fill out the Genetic Disorders Report and attach it to your project. You will also need to prepare a letter addressed to one of the following people:

1. Home health aide/home health nurse2. Preschool teacher3. School teacher (K-12)


To whom you address your letter to will depend on the life span of your child. For genetic disorders which are not immediately fatal, you may choose any one of the three people above to write to.

In the body of the letter, you need to explain the following to this person: 1. What your child’s disorder is2. How this disorder affects your child’s quality of life3. Any medical treatment your child may need to have administered while in the care

of this person (i.e., medications given, specialized diet, therapeutic treatments)4. If the child is able to, and attends school, any symptoms the child may

demonstrate that will affect their ability to function in a learning environment5. If the child is able to, and attends school, any sort of accommodations that must

be made in order to make your child’s learning experience a positive and productive one

This letter must be typed and written with a professional tone. It must be at least one page in length with an appropriate salutation and closing.

If your child DOES NOT have a chromosomal abnormality…You will receive a letter from the doctor’s office informing you as to what your child’s disorder is. Then you will also need to do a little research about your child’s disorder so that you can adequately prepare for any special needs your child may have upon his/her arrival. You will need to fill out the Genetic Disorders Report and attach it to your project. You will also have to write the letter as described above.

Now Here’s the Genetics: Day Two

Now that you know what the sex of your child is, and what any possible chromosomal defects might be, you and your partner will ‘deliver’ your baby in class, without the pain or mess. To do this, you will need to do the following:

1. Between the two of you, decide who will represent the father and who will represent the mother.

2. Get a blue cup and mark it as “sperm” and get a red cup and mark it as “egg”.3. The ‘mother’ partner should get a pink chromosome sheet and the ‘father’ partner

should pick up a blue chromosome sheet.4. Using the Human Phenotype and Genotype guide, each parent should determine

their own phenotypes for their physical characteristics. a. NOTE #1: You need to use your natural eye and hair color when

attempting to determine your phenotype for these characteristics. b. NOTE #2: If you are dominant for a trait, then flip a coin to determine if you

are heterozygous or homozygous for that trait.5. On the appropriate Parent Information sheet, in the spaces provided, you need to

write down what your phenotype and genotype are for each trait.6. Now, using the appropriate chromosome model sheet, write down the alleles for

each genotype in the gene spaces provided on the model.7. Cut out the chromosomes. Cut along the dashed lines to separate the genes from

one another and place them into the cup which represents you.AP Bio document.doc by Lee Ferguson, Allen High SchoolRevised by Dawn Berkeley 2008Page 4 of 35

8. Now, both parents will randomly draw genes from their cups and place them on the zygote sheet to create a complete zygote. Tape the genes to the appropriate chromosome space on the zygote sheet. This now represents a diploid pair of chromosomes present in the fertilized egg, or zygote.

9. Fill out the birth certificate and birth announcement for your child. Give your child a name, because the baby can’t go home from the hospital without one!


Determining Child’s Blood TypeRecall that the major blood groups are:

AB

ABO

You will now determine the blood type of your baby. You will need two different coins in order to perform this activity. NOTE:1. Heads on coin #1 is the A allele; tails on coin #1 is the O allele. 2. Heads on coin #2 is the B allele; tails on coin #2 is the O allele.

Flip both coins to determine your child’s blood type and write it in the space provided on the zygote sheet.

Baby’s First PortraitUsing the information you have collected, you and your partner will need to construct a portrait of your child which reflects the phenotypes from the genotypes you determined in the lab. It should be accurate and in color. Use the space provided to draw your baby’s portrait. A head and shoulders shot (bust) of the baby will suffice. The portrait must be large enough to be seen at a good distance. In other words, do not draw a tiny baby head! Also, no stick drawings of your child will be acceptable, as this does not reflect the phenotypes your baby will possess.

Baby Genetics ProblemsYou may work with your partner to solve the genetics problems attached but you must use YOUR OWN GENOTYPE when solving the problems. Therefore, when this project is turned in, you will turn in two sets of solved genetics problems, not just one.

What Gets Turned In and How

Here is what you will turn in and in what order and how:

How: In a folder with brads (not a report cover; things will fall out and get lost)Make sure that whatever is required to be typed is typed. Anything that is handwritten must be NEATLY WRITTEN.


What Order Should it be in the Folder?Page 1. Cover Sheet Page 2. Table of Contents Page 3. Baby’s Nine Month Development Journal Page 4. Baby’s Delivery Journal Page 5. Baby Shower Party PlansPage 6. Baby’s Birth AnnouncementPage 7. Birth Certificate (neatly handwritten)Page 8. Baby’s Karyotype Sheet (neatly handwritten)Page 9. Karyotyping Questions (both parents answer these)Page 10.Doctor’s Letter given to you in class by Mrs. BerkeleyPage 11.Genetic Disorder ReportPage 12.Special Needs Letter Page 13.Completed Parent Information Sheet for FatherPage 14.Completed Parent Information Sheet for MotherPage 15.Completed Zygote Information Sheet with blood typePage 16.Baby’s First PortraitPage 17.Baby’s Genetics Problems (there should be two sets, completed by each

parent.)



AP Biology Baby

Was conceived:August 18, 2008

Was born:May 11, 2009

Name Here

Our

Mother’s Name: _______________________Father’s Name: _______________________


TABLE OF CONTENTS

Table of Contents …………………………………………………….……………………................Page 2

Baby’s 1st Month …………………………………………………………………………… Page 3

Baby’s 2nd Month ……………………………………………………….………………… .................Page 4

Baby’s 3rd Month …………………………………………………………………………. Page 5Baby’s 4th Month ……………………………………………………………………….. Page 6Baby’s 5th Month ……………………………………………………………………….. Page 7Baby’s 6th Month ……………………………………………………………………….. Page 8Baby’s 7th Month ……………………………………………………………………….. Page 9Baby’s 8th Month ……………………………………………………………………….. Page 10Baby’s 9th Month ……………………………………………………………………….. Page 11Baby’s Delivery Journal ………………………………………………………………… Page 12Baby’s Shower Party……………………………………………………………………….. Page 13Baby’s Birth Announcement…………………………………………………………… Page 14Birth Certificate ……………………………………………………………………………. Page 15Karyotyping Form…………………………………………………………………………….. Page 16Karyotyping Questions……………………………………………………………………. Page 17Doctor’s Letter…………………………………………………………………………………...................................Page 18

READING

Campbell pp. 465, 987-990; Nine Month Miracle handout

Replace this paragraph with information about your new baby in terms of its size, physical features, and any other relevant biological information.

If a boy, what are 3 possible baby names?

If a girl, what are 3 possible baby names?


1) Secure an image of your baby’s first month then insert it into the space to the left.

2) Label any special features identifiable on your photo.

BABY’S 1ST MONTH

READING

Campbell pp. 967-968; Nine Month Miracle handout



1) Secure an image of your baby’s 2nd month then insert it into the space to the left.


BABY’S 2ND MONTH

BABY’S 3RD MONTH

READING

Campbell pp. 269-270, 274-275; Nine Month Miracle handout


READING



1) Secure an image of your baby’s 3rd month then insert it into the space to the left.


BABY’S 4TH MONTH


READING



1) Secure an image of your baby’s 4th month then insert it into the space to the left.




BABY’S 5TH MONTH


READING





BABY’S 6TH MONTH



READING

Nine Month Miracle handout





BABY’S 7TH MONTH

READING

Campbell pp. 269, 274, 293; Nine Month Miracle handout





BABY’S 8TH MONTH

BABY’S 9TH MONTH

READING

Campbell p. 971; Nine Month Miracle handout






BABY’S 2ND MONTHBABY’S DELIVERY JOURNAL

Describe the process of childbirth for the mother:

Describe the process of childbirth for the child:

What are some ways that the process of birth may need to be assisted and why would they be used?


BABY’S 2ND MONTHBABY’S SHOWER PARTY

Your pair must come up with one (1) baby shower game to be played on the date of the delivery. List that game here:

TELL US EVERYTHING YOU CAN ABOUT YOUR NEW BABY!

BIRTH ANNOUNCEMENT

Congratulations! You are the new parents of a baby ____________. (fill in baby’s sex here)

Our new baby’s name is _________________________.

_____________________ was born on Monday, May 11, 2009 at Presbyterian

Hospital of Riverdale at 1:45 pm.

__________________________ weighed __________________ and is (baby’s name here) weight, in pounds and ounces

____________________ long. _________________________ has (length in inches) (baby’s name here)

________ eyes and ______________ hair. (eye color) (baby’s hair color)

We are very excited to be taking ______________________ home with us.(baby’s name here)

Official Seal of

Approval!


_________________________ CERTIFICATE OF LIVE BIRTH _________________________ STATE BIRTH CERTIFICATE NUMBER STATE OF TEXAS DEPARTMENT OF PUBLIC HEALTH LOCAL CERTIFICATE NUMBER

THISCHILD

1a. Name of Child—first name 1b. Middle Name 1c. Last Name

2. Sex 3a. This birth single, twin or triplet?

3b. if twin or triplet, this child born 1st, 2nd, 3rd, etc?

4a. Date of birth

May 11, 2009

4b. Time:

1:45 pm

PLACE OF BIRTH

5a. Place of Birth—Name of hospital

Presbyterian Hospital

5b. Street Address

6001 Good Luck Road

5c. Inside city limits?

Yes5d. City or Town

Riverdale5e. County

Prince George’s

MOTHER OF CHILD

6a. Mother’s first name 6b. Mother’s last name 6c. Birthplace

7a. Residence of Mother

6001 Good Luck Road Riverdale, MD 20737

7b. Residence of Mother—County

Prince George’s


Yes

FATHER OF CHILD

8a. Father’s first name 8b. Father’s last name 8c. Birthplace

9a. Residence of Father

6001 Good Luck Road Riverdale, MD 20737

9b. Residence of Father—County

Prince George’s


Yes

ATTENDANT’S CERTIFICATION

I HEREBY CERTIFY THAT I ATTENDED

THIS BIRTH AND THAT THE CHILD WAS

BORN ALIVE AT THE HOUR AND DATE

STATED ABOVE.

10a. Physician (or other person who attended this birth) Signature, Degree, and titleDawn L. Berkeley, MD

10b. Physician’s Maryland License Number:

LOCAL REGISTRAR

11. Local registrar—Signature

11b. Date accepted by registrar


Karyotyping Form

_________

1

_________

2

_________

3

_________

4

_________

5

Group A: Very long chromosomes; centromere in center

Group B: Long chromosomes; centromere away from center

_________

6

_________

7

_________

8

_________

9

_________

10

_________

11

_________

12

Group C: Medium length chromosomes; centromeres away from center

_________

13

_________

14

_________

15

_________

16

_________

17

_________

18

Group D: Medium length chromosomes; centromeres at or near very end

Group E: Chromosomes somewhat short; centromeres away from center

_________

19

_________

20

_________

21

_________

22

_________

X

_________

Y

Group F: Short chromosomes; centromeres in center

Group G: Very short chromosomes; centromeres at or near end

Sex Chromosomes

Number of Chromosomes: _______________ Sex of Subject: ______________ Type of Disorder (if any):_____________________________


Karyotyping QuestionsThese questions plus your completed karyotype also count as a lab grade…be thorough in your answers! You should not have the exact same answers as your partner. Doing so will result in a zero for this assignment.

1. What diagnostic procedure is done to obtain cells for karyotyping of a fetus? Describe the procedure here. ______________________________________________________________________________________________________________________________________________________________________________________________________________________________________________________________________________________________________________________________________________________________________________________________________________________________________________________________________________________________________________________________________________________________________________________________________________________________________________________

2. Why would a doctor perform an amniocentesis? ______________________________________________________________________________________________________________________________________________________________________________________________________________________________________________________________________________

3. What is a trisomy? What is a monosomy? What causes these chromosomal aberrations to occur? During what cellular process do they occur? ______________________________________________________________________________________________________________________________________________________________________________________________________________________________________________________________________________________________________________________________________________________________________________________________________________________________________________________________________________________________________________________________________________________________________________________________________________________________________________________

4. Name two chromosomal abnormalities that can be diagnosed from a karyotype. ________________________________________________________________________________________________________________________________________________________________________________________________________________________________________________________________________________________________________________________________________________________________________


Pediatric Associates of Riverdale Dr. Dawn L. Berkeley, MDDr. George Jetson, MDDr. Betty Rubble, MD6001 Good Luck RoadRiverdale, MD 20737(301)-HEALERS (432-5377)(972)-432-5378 faxweb: http://www.docsforsickkids.net/ “Healing sick kids keeps our business healthy.”

Parents of Newborn6001 Good Luck RoadRiverdale, MD 20737

Dear Sir or Madam:

We would like to thank you for your recent visit to our office. Unfortunately, upon your recent visit, we discovered some abnormalities with your child’s lab work.

After some preliminary post natal blood tests and careful observation, we believe that your child may have the following genetic abnormality: ___________________.

We would like to see you and your child in our office as soon as possible for further tests, including a genetic profile. This will enable us to provide you with a more clear diagnosis as well as explore possible treatment options. We will also set up a meeting with our clinic’s genetic counselor, so that they can explain to you more about your child’s condition.

Please contact our office at your earliest convenience. Our office phone number is 301-432-5377. Our secretary will graciously make an appointment that is most convenient for you.

Yours truly,

Drs. Berkeley, Jetson and Rubble



Genetic Disorders Report

1. Name of disorder: ___________________________________________

2. Chromosome location: Give the chromosome location and gene locus information. For example, Xq21 means the gene is located on the long arm of chromosome X at locus 21; 5p39 means that the gene is located on the short arm of chromosome 5 at locus 39.

3. List at least five symptoms/signs of this disorder.

4. How does a medical professional diagnose this disorder? What sorts of diagnostic tests are run to determine whether or not someone has this disorder?

5. Name at least 3 treatment options available for people with this disorder. These can include specialized medications, therapeutic treatments, therapies, or surgical treatments.

6. What is the prognosis for someone with this disorder? Include information regarding what their life expectancy might be, what their day to day life would be like, any special medications, diet, therapy, etc. that they might have to have. 7. What special needs/accommodations must be made for someone with this disorder in order to make daily living as normal as possible?

8. How does a person having this disorder affect the lives of their family members? Consider the following aspects of the life of the family, and how they are affected: emotional, physical, financial aspects.

Special Needs Letter If your child DOES have a chromosomal abnormality…You will need to do a little research about your child’s disorder so that you can adequately prepare for any special needs your child may have upon his/her arrival. Prepare a letter addressed to one of the following people:

1. Home health aide/home health nurse2. Preschool teacher3. School teacher (K-12)


Parent Information Sheet: Father


Father’s Phenotype and GenotypeP1 Generation

Trait Phenotype GenotypeFace shape

Hairline

Hair type

Hair color

Eyebrow type

Eyebrow shape

Eye spacing

Eye slant

Eye color

Eyelashes

Nose shape

Lips

Ears

Eye Set

Parent Information Sheet: Mother


Mother’s Phenotype and GenotypeP1 Generation

Trait Phenotype GenotypeFace shape

Hairline

Hair type

Hair color

Eyebrow type

Eyebrow shape

Eye spacing

Eye slant

Eye color

Eyelashes

Nose shape

Lips

Ears

Eye Set

Zygote Sheet: F1 GenerationTape the genes you drew from the cups to the spaces on this sheet.

Chromosome 1 Chromosome 2Face shape Face shape

Hairline Hairline

Hair type Hair type

Hair color (1st gene) Hair color (1st gene)

Hair color (2nd gene) Hair color (2nd gene)

Eyebrow type Eyebrow type

Eyebrow shape Eyebrow shape

Eye spacing Eye spacing

Eye slant Eye slant

Eye color (1st gene) Eye color (1st gene)

Eye color (2nd gene) Eye color (2nd gene)

Eyelashes Eyelashes

Nose shape Nose shape

Lips Lips

Ears Ears

Eye Set Eye Set


Blood Type: ________________


Baby’s First Portrait

Draw a bust (head and shoulders only) portrait of your child in the space below. Remember, the phenotypes your child exhibits must be representative of the genotypes that you and your partner drew at random from the gamete cups.


Baby Genetics Problems Monohybrid/Dihybrid Crosses and Sex-Linked Traits

A big day in the life of your family arrives when your child says to you, “I went to Las Vegas over the weekend and now I’m married!” You immediately get excited because your child has finally married and will be moving out of your house soon. You have always wanted to have grandchildren to play with and spoil, and now the opportunity has potentially presented itself.

In the problems below, construct Punnett squares to determine what the possible genotypes and phenotypes of your future grandchildren will be based on the genotypes of your child and his/her spouse. No credit for the problems will be granted if all your work is not shown in a Punnett square.

Monohybrid Crosses1. Your child’s spouse has blood type AB. What are the possible blood types of your

future grandchildren? Give all genotypes and phenotypes, with probabilities of each blood type’s occurrence.

2. Your child’s spouse is heterozygous for the almond shaped eyes trait. What are the chances that you will have grandchildren with round eye shape?

3. Your child’s spouse has short eyelashes. Will any of your grandchildren be born with short lashes? What is the probability that you will have grandchildren with short eyelashes?

4. Your new daughter-in-law /son-in-law has an oval face. Both of their parents are heterozygous for the oval face trait. What shape face will your grandchildren potentially have?

5. You have always thought that a hairline with a widow’s peak looked really cool. You are slightly disappointed that your new daughter-in-law /son-in-law does not have a widow’s peak. Will it ever be possible for any of your grandchildren to have a widow’s peak? Give the probabilities that this will occur.

Dihybrid Crosses1. For Thanksgiving this year, your child brings his/her new spouse over to your

house for dinner. This is the first time you have met them and the feature you immediately notice about them is their striking green eyes. They also have blonde hair, which your child informs you is not their natural hair color. Their eyes are green with a reddish brown line around the pupil. Based on this, what eye colors are possible for any future children your child and his/her spouse may have? Give probabilities for each eye color’s occurrence.

2. In addition to bringing their new spouse to your house for dinner, your child brings their in-laws with them since they are visiting from out of town. You have


wondered what color your grandchildren’s hair will be but are unsure if you can determine it since you do not know the natural hair color of your child’s new spouse. After speaking with and observing your new in-laws, you have been informed that your child’s new spouse has a natural hair color of brownish blonde. What are the possible genotypes of your in-laws that could have produced this genotype in your new daughter-in-law /son-in-law?


Sex-linked Traits

1. Your father was a hemophiliac and your mother had normal blood clotting and was not a carrier for the hemophilia trait. What does this make your genotype for this trait? Both partners in this project must determine their genotype for this question, as the information gathered here will be used in the next question.

2. Once you have determined your genotype for the hemophilia trait, construct a Punnett square that shows the potential genotypes for your child for this trait.

3. Assume that your child possesses the normal blood clotting trait, and is not a carrier for the trait. What is the probability of your child and his/her new spouse having a child with hemophilia if the spouse is a hemophiliac themselves?

4. Your child was diagnosed as being colorblind back in elementary school because they had trouble seeing the colors red and green. Your new daughter-in-law /son-in-law has normal color vision, but they have a father who is color blind and a mother with normal color vision who is a carrier for the colorblindness trait since her father was colorblind as well. What is the genotype of your new daughter-in-law /son-in-law? What are the genotypes of your daughter-in-law/son-in-law’s parents? What is the probability that any one of your grandchildren will be colorblind?


Our

Pride And Joy Human Genetics Activity 2008 2009

Technology

babys karyotype sheet

karyotyping sheet

extra chromosomes

karyotyping form

chromosome smear

karyotype questions

karyotyping procedure

fetal karyotyping