Kayla Cook

Mrs. Norris

Honors Biology

14 April 2015

Baby Lab Genetics Study

In a study, a patients genetics will be studied. Specifically, the patient will be examined

for chromosomal and allelic disorders and a few traits.The patients name is Aidan Christopher.

Aidan Christopher is a male baby born to parents Kayla (the mother) and Deanna (the father).

Aidan Christophers genetic counselor is Akeem.

Aidan Christopher had a karyotype test done. But first, what is a karyotype? Put simply, a

karyotype is a picture of a persons chromosomes. It shows if a person is a male or female, and

can help diagnose someone with a chromosome abnormality. Aidan Christophers karyotype has

three copies of chromosome 21 (trisomy). This indicates that he has Down Syndrome, a disorder

that causes physical, behavioral, and health impairment. Aidan Christopher can be expected to

develop a number of medical problems and complications, but the severity of these problems

often vary. According to Remedys Health Community, 80% of people with Down Syndrome

live to age 55 or longer. Downs is often associated with physical, health, and behavioral

symptoms such as poor muscle tone, flat facial features, risk of medical problems, and slow

learning capabilities. Down Syndrome is not curable, but it can be managed. Many with Downs

can still attend either a regular or special educational school, and they can enjoy many of the

same activities and pastimes as people without the condition. There are a few ways to manage
Down Syndrome: physical therapy, speech-language therapy, occupational therapy,

emotional/behavioral therapy.

Aidan Christopher has a family history for the allelic disorder Tay-Sachs. Tay-Sachs is a

rare genetic neurodegenerative disorder that destroys nerve cells in the brain and spinal cord. It

occurs when a gene defect occurs on chromosome 15. It is considered an autosomal recessive

disorder. Some symptoms include deafness, blindness, paralysis, seizures, mental and social

developmental delay,and a red spot on the eyes macula. There is no cure, but there are ways to

help a person diagnosed more comfortable. Some of these ways include seizure medication,

respiratory care, feeding tubes, physical therapy, and family support.

Aidan Christopher has an overall 8% chance of getting Tay-Sachs and a 33% chance of

carrying it. This was found this by taking all possible crosses of his parents, counting how many

overall homozygous dominant, heterozygous, and homozygous recessive possibilities there were,

and then dividing each by 12 (the total number of possibilities). The only way he can get

Tay-Sachs is if both his parents are heterozygous. He can be a carrier if both his parents are

heterozygous or if one parent is dominant and the other is heterozygous. His father, Deanna, has

a higher chance of being heterozygous and his mother, Kayla, has a higher chance of being

homozygous dominant. However, these are all just estimates because there wasnt enough

information given to determine one Punnett Square that would show Aidan Christophers

possible genotypes.

Aidan Christophers parents blood types can predict Aidan Christophers blood type. His

Dad, Deanna, has type O (ii) blood type, and his mom, Kayla, has type A (IAIB) blood type. After

the Punnett Square (IAIB x ii) was worked, it was shown that Aidan has a 50% chance of having
type B (IBi) blood type and a 50% chance of having type A (IAi) blood type. Even though there is

an i in both possibilities for Aidan Christopher, he will not be type O because O blood type is

recessive. Only one Punnett Square was necessary to display ABx O because AB and O have

only 1 possible genotype.

Some traits from parents are either expressed as the dominant or the recessive trait. This

means a heterozygous genotype will have a dominant phenotype. Kayla and Deanna gave alleles

to Aidan Christopher and those alleles determined his genotype and phenotype. Aidan

Christopher received two homozygous dominant alleles for freckles, and therefore his genotype

resulted in noticeable freckles. Aidan Christopher is heterozygous for his face shape, and his

genotype resulted in a round face shape. He has a phenotype of absent cheek dimples

because his genotype is homozygous recessive. Aidan Christopher has a phenotype of long

eyelashes since his genotype was homozygous recessive. Also, because he was heterozygous

for widows peak, his phenotype was a present widows peak.

Other traits are considered incomplete dominance. Incomplete dominance occurs when

one trait is not completely dominant over the other, so the heterozygous condition results in a

blend of the two traits. This is true for the nose size of baby Aidan. One parent gave an allele for

a large nose, while the other parent gave an allele for a small nose. These two traits blended and

gave Aidan a medium nose size. Aidans genotype for nose size is heterozygous, and his

phenotype is medium nose size. Sometimes traits phenotypes are influenced by more than one

gene. This is known as a polygenic trait. An example of one would be hair color. Aidans parents

gave multiple alleles to determine his hairs phenotype and genotype. He ended up with a

heterozygous genotype and his phenotype expressed as red hair.

 Punnett Squares

5 Dominant/Recessive Traits - These traits are either expressed as either dominant or recessive
phenotypes. The heterozygous genotype will result in a dominant phenotype because the recessive allele
is masked by the dominant allele.
Freckles
F f
Aidan Christophers parents, Deanna and Kayla,
F gave him alleles that determined his genotype
FF Ff
which in turn determined his phenotype. The
Punnett Square to the left shows their genotypes
crossed. He ended up with the genotype FF and
F FF Ff the phenotype present freckles. His genotype
is highlighted in the square.
F dominate allele (present freckles)
f recessive allele (absent freckles) .

Face Shape
R r
The Punnett Square to the left shows the
r possible genotypes for Kayla and Deannas
Rr rr
children. Aidan Christophers genotype is the
heterozygous Rr, and his phenotype is round
face shape. Even though he had an allele for the
r Rr rr square face shape, his dominant allele for round
face shape masked it.
R dominate allele (round face shape) .
r recessive allele (square face shape) .

Cheek Dimples
D d
The Punnett Square to the left shows the
D possible genotypes for Kayla and Deannas
DD Dd children. Aidan Christophers genotype is the
recessive dd, and his phenotype is absent cheek
dimples. Because he received two recessive
d Dd dd alleles, the recessive trait was not masked, and
therefore his genotype expressed the recessive
D dominate allele (present dimples)
trait.
d recessive allele (absent dimples) .
 Eyelashes
l l The Punnett Square to the left shows the
possible genotypes for Kayla and Deannas
L Ll Ll children. Aidan Christophers genotype is the
recessive ll, and his phenotype is long
eyelashes. Because he received two recessive
alleles, the recessive trait was not masked, and
l ll ll therefore his genotype expressed the recessive
trait.
L dominate allele (short eyelashes)
l recessive allele (long eyelashes) .

Chin Shape
N n The Punnett Square to the left shows the
possible genotypes for Kayla and Deannas
N
NN Nn children. Aidan Christophers genotype is the
dominant NN, and his phenotype is noticeable
chin shape, because he received two dominant
alleles.
N NN Nn

N dominate allele (Noticeable)

n recessive allele (Subtle) ..

1 Codominant Trait- These traits are traits where the heterozygous trait expresses both traits, rather
than just the dominant trait or a mixture of the two.

Blood Type
B
I i This Punnett Square does not actually show
Aidan Christophers blood type. His actual blood
IA type is either IAi or IBi, as shown in a later
IAIB IA i
Punnett Square. However, this is an example of a
codominant trait in a human. Blood types A and
B are neither dominant nor recessive in relation
IB IBIB IBi to each other. So the blood type IAIB is a
codominant trait.
IA, IB dominate allele (A,B blood type)
i recessive allele (O blood type) ..
2 Polygenic Traits- A traits phenotypes are influence by more than one allele. Each parent gives more
than one allele that will determine the childs phenotype. This gives a higher chance of genetic variation.

Hair Color
AA Aa
This Punnett Square shows how polygenic traits
Bb
AABb AaBb can be determined by multiple alleles. Aidan
Christophers genotype was AAbb and his
genotype was Red Hair. There were many
possible phenotypes, but the four possible for
bb AAbb Aabb
Aidan were Red Hair (AAbb), Black Hair (AABb),
Light Brown (AaBb), and Dark Blonde (Aabb).
A,B dominate allele
a,b recessive allele ..

Eye Color
This Punnett Square shows how polygenic traits
Aa Aa can be determined by multiple alleles. Aidan
Christophers genotype was AaBb and his
Bb
AaBb AaBb genotype was Light Brown. There were many
possible phenotypes, but the two possible were
Light Brown (AaBb), and Gray Blue (Aabb).
bb Aabb Aabb

A,B dominate allele

a,b recessive allele ..
2 Incomplete Dominant Traits- Occurs when one trait is not completely dominant over the other, so the
heterozygous condition results in a blend of the 2 traits.

Hair Curliness
C c
This Punnett Square shows how polygenic traits
C can be determined by multiple alleles. Aidan
CC Cc Christophers genotype was AAbb and his
genotype was Red Hair. There were many
possible phenotypes, but the four possible for
C CC Cc Aidan were Red Hair (AAbb), Black Hair (AABb),
Light Brown (AaBb), and Dark Blonde (Aabb).
C dominate allele (Curly)
Cc heterozygous (Wavy)
c recessive allele (Strait)

Nose Size
G g This Punnett Square shows how polygenic traits
can be determined by multiple alleles. Aidan
G Christophers genotype was AAbb and his
GG Gg
genotype was Red Hair. There were many
possible phenotypes, but the four possible for
Aidan were Red Hair (AAbb), Black Hair (AABb),
g Gg gg Light Brown (AaBb), and Dark Blonde (Aabb).

G dominate allele (Large)

Gg heterozygous (Medium)
g recessive allele (Small)
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Kayla Cook

Mrs. Norris

Honors Biology

10 May 2015

Patient Disease Analysis

A patient has been brought in to HHS Pediatrics Group. According to his guardian, he

has been tired and lethargic for two weeks. The child has been inconsistently staying home from

daycare, and his parents have been treating him with Childrens Motrin. He has suffered from

body aches, headaches, and a low grade fever. The preliminary exam stated that the child looked

tired, felt warm, and had swollen lymph nodes. He had a slight fever of 99.1F and his blood

pressure was normal (116/80).

The doctor suspected the child might have either toxoplasmosis or influenza because the

symptoms of those two diseases were parallel to those the child had been showing. The doctor

ordered a blood test to determine if there were any DNA molecules of Toxoplasma gondii in his

blood. Then the doctor ordered an Influenza Rapid Diagnostics Test (RIDT) to determine

whether the child had influenza. The tests came back negative for the RIDT test, but the child

tested positive for the blood test.

The child was diagnosed with Toxoplasmosis. It was difficult to determine the diagnosis

because the child showed symptoms of two different diseases. The baby had swollen lymph

nodes, body aches, headaches, fever, and fatigue. These are all symptoms of toxoplasmosis.

However, body aches, headaches, fevers, and fatigue are all also symptoms of influenza. He had

to be tested for two different diseases to tell what the child actually had.
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Toxoplasmosis is a disease that results from infection with the parasitic protist,

Toxoplasma gondii. There is no vaccine for toxoplasmosis available to humans currently;

however the National Center for Biotechnology Information says that there may be a

toxoplasmosis vaccine in the coming future. The vaccine that has been created cannot be used on

humans because it may revert to a pathogenic strain. However, because the child already has

toxoplasmosis he wouldnt even need a vaccine to prevent future illnesses. This is because once

someone has toxoplasmosis once, they will be immune to it in the future. The only exception is if

the child later develops an immunodeficiency condition. If that is the case, he could be

re-infected and even develop encephalitis, a severe brain infection.

Because the childs symptoms are mild, they should go away within a month. Only

severe cases of toxoplasmosis need treatment. If the child had a severe case he might need to be

treated with drugs such as folinic acid, sulfadiazine, and pyrimethamine. Sulfadiazine is an

antibiotic that can be used with pyrimethamine, but the child will not need to use it because he

only suffers from mild symptoms. The child is expected to have an excellent outcome without

any short or long term issues as his symptoms were only mild.

The child will not be contagious. Toxoplasmosis can only be transferred from person to

person if the infected person is pregnant and passes it on to her unborn child. People usually

become infected with toxoplasmosis after eating undercooked meat, drinking contaminated

water, eating unwashed fruits and vegetables, or coming into contact with feces from an infected

cat. It usually is about 1-3 weeks before an infected person begins to show symptoms of

toxoplasmosis. Most people dont develop symptoms. If they do show symptoms, they usually

arent very severe. This is true for the infected childs case.
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Kayla Cook

Mrs. Norris

Honors Biology

18 May 2015

Home Health Risks and Health Myths

There are many environmental factors that can lead to several problems in childrens

growth, bodily functions, and life. Some health risk factors can be found in the very homes of

these children. People are exposed to these harmful substances every day as they are found in the

most surprising and common places.

An Endocrine Disruptor is a synthetic chemical that can do harm to the body. The

synthetic chemicals mimic or block hormones, disrupting bodily functions. As suggested in the

name, Endocrine Disruptors mess with the bodys Endocrine System. This system regulates

growth, development, maturation, and the operation of various organs. Endocrine Disruptors

could possibly cause an early puberty, abnormal reproductive organs, an increased risk of

mammary/ovarian/prostate cancers, an increased risk of immune/autoimmune/neurodegenerative

diseases, and an increased risk of diabetes and obesity. Infants, children, and developing fetuses

are more vulnerable to exposure to EDs. These dangerous chemicals are found in everyday

things such as plastics, cosmetics, water, and air. The ED chemical BPA is used in the

production of plastics, and DEHP chemicals are used in food packaging and childrens products.

To reduce exposure to EDs, choose organic foods, replace pesticides with baits/traps, avoid fatty

foods, avoid heating food in plastic containers, avoid storing food in plastic, and do not let

children teeth or use plastic toys/teethers.

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Achoo! this is a common sound heard during allergy season. But why do people

experience such miserable conditions throughout allergy season? Allergy symptoms are caused

by allergens and irritants. Allergens are substances that cause allergic reactions,and irritants are

substances that cause slight inflammation or other discomfort to the body. Allergens and irritants

can cause both serious and mild effects. A few effects include eczema, coughing, rashes, runny

noses, itchy eyes, swelling, or sneezing. Cigarette smoke is an irritant that not only causes

respiratory problems and asthma-like symptoms, but it also contains dangerous toxins such as

carbon monoxide. Cockroach and animal (pet) saliva are two common irritants as well, which is

troublesome because these organisms are found almost anywhere. Seasonal pollen spreads

through the air and causes irritating symptoms. To avoid exposure, seek smoke-free

environments, set up traps for cockroaches, avoid being outdoors from 5:00 am to 10:00 am for

pollen, and avoid owning pets. If owning pets is a must, then prevent pets from getting into

living spaces as their saliva and dandruff are allergy irritants.

Mutagens cause mutations in an organisms DNA, and carcinogens are mutations that

specifically lead to cancer. Mutagens can either have a neutral or negative effect; they usually

arent beneficial. Carcinogens always have negative effects because they cause cancer. 85% of

mutagens are also carcinogens. Children can be exposed to mutagens through X-rays and gamma

rays, and they can be exposed to mutagens through inhaled tobacco smoke, UV radiation,

pesticides, and inhaled asbestos. Mutagens and carcinogens can be avoided by taking off inch

of the surface of cooked meats, avoid overexposure to sunlight, try not to have a lot of X-rays

taken.
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The nervous system controls the bodys voluntary and involuntary functions and

regulates communication throughout the body. It consists of vital organs such as the brain, spinal

cord, and sensory organs. Neurons deliver special signals to all the parts of the body. There is an

enemy to this system, and its called a neurotoxin. These toxins will either damage neurons so

they cant function, attack neurons signals by blocking or sending out false signals, or destroy

neurons. Children can experience dizziness, nausea, loss of motor control, paralysis, seizures,

and more from these neurotoxins. Neurotoxins can be found in processed foods, such as chips

and candy, as well as baby food. This is dangerous because babies guts absorb more toxins from

ingested materials and babies and children are still developing. They are also found in poisonous

snakes, bugs, and animals. Neurotoxins are often found in lead products like paint, gasoline, and

drinking water. It is difficult to avoid neurotoxins, but exposure can be prevented by keeping

children away from barriers that could have lead based paint on them such as baby gates,

drinking pure filtered water, eating organic produce, and by using natural garden products versus

chemicals.

Recently girls have begun to begin puberty at ages as early as 5 years old. This has

parents worried, as early development can cause a number of issues in the childs later on life. It

is very difficult for researchers to determine what is causing this premature development. One

claim blames soy products. Lately soy products have been used abundantly as it is seen as

healthier. U.S. Food and Drug Administration promotes it in children, and over a quarter of baby

formula contain soy. But soy products contain isoflavones, which mimic estrogen and carry out

the actions of estrogen. Several studies in rats proved that soy is one of many factors to blame for

early puberty.
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Early puberty was originally blamed on milks and meats. More specifically it was blamed

on an artificial bovine growth hormone called rBGH that is found in milks and meats. This

cannot be the case, however. This is because the hormone rBGH is a protein hormone that gets

destroyed during the process of digestion. It would have to be a steroid hormone similar to

estrogen if it were to be the cause of early puberty.

Autism is a developmental disability. People with Autism act, learn, and think differently.

There used to be a concern that vaccines caused Autism. There is a vaccine preservative called

thimerosal that supposedly was linked to Autism. However, vaccines do not cause Autism.

Several studies over the years conducted by CDC have proved that there is no link. Even if there

was, thimerosal is hardly used in any vaccines nowaday anyway.

Vaccines have also been controversial because they are said to contain dangerous

mercury. Vaccines did contain thimerosal, a mercury containing preservative. However, the

amounts in vaccines were so small that they only caused redness or swelling at the injection site.

But, to be precautionary, thimerosal was removed. Very few vaccines still use the preservative.

Electromagnetic fields are almost everywhere. They are produced by electricity, power

lines, and mobile phones. There have been concerns that electromagnetic fields are linked with

cancer. After some studies, it was concluded that adults do not contract cancer from

electromagnetic field exposure, but children do have a chance of getting cancer (specifically

leukemia) from these invisible waves of energy. This is difficult to determine for sure, though,

because it is a generally recent study.

 Chromosome and Single Gene Disorders

A chromosome is a very important structure in the body that contains the bodys genetic

information.There are 46 chromosomes in the body, and each contains thousands of genes.

Genes are the instructions for building an organism. Single-gene defects affect only one single

gene and typically dont have as drastic effects as a chromosome disorder. Even though single

gene disorders can cause the gene to follow the wrong directions and negatively affect the

organism, the overall chromosome can still function properly. However, chromosome disorders

are much more devastating because one chromosome holds and affects so many genes.

Chromosomes can duplicate, delete, insert, or invert. One of these abnormalities can drastically

affect a chromosome and all the genes that make it up.