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Human Genetic Disorders

A publication by Periods 8-9

SYMPTOMS -Pale skin -White hair -Blue/White eyes -Loss of normal eye movement -Eyes are sensitive to bright light and glare -Impaired vision -Skin is sensitive to sun

Albinism DISCOVERED! Who: People who have the loss of color in hair, skin or iris of the eye What: Albinism is the defect of melanin production that gives the outcome of little to no color in the hair, skin, and eye When: Albinism was discovered around 1908 Where: Albinism is located on the autosomal chromosomes of 5, 9, 11, and 15 Why: Albinism is determined by the gene OCA and if you inherit both OCA genes from each parent you are determined to have the trait

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Melanin is the natural substance that give color to the pigments

Albinism is a Recessive Trait

OCA stands for Oculocutaneous albinism

There is no current treatment to cure Albinism

Albinism was first discovered by a man named Sir Archibald Edward Garrod

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Albinism is a gene mutation that involves many chromosomes

Common Symptoms of Cystic Fibrosis   

Poor growth and ability to lose weight Accumulative and thick mucus Frequent chest infections due to Mucus buildup

Treatment for CF (There is no known cure)   

Regular exercise is necessary to prevent Mucus buildup Daily anti- biotic use to prevent infection of Mucus When the lungs prevent you from being able to exercise, you normally require a lung transplant Picture Fibrosis.png

Down Syndrome Flyer What is Down Syndrome? Down Syndrome is a genetic condition in which a child is born with one extra chromosome. Instead of the normal 46 chromosomes, people with Down Syndrome have 47 chromosomes. Fun Facts! ● There is now way of curing Down syndrome, there are only treatments to prevent some of the symptoms. ● The life expectancy of individuals with Down Syndrome had doubled over the last few decades.  People with this disorder are now life over the age of 55.­guinness­records­6984/

● You can actually tell whether the child has down syndrome months before its born by getting an ultrasound of the baby while its in its mother.


Why the extra Chromosome? The reason that people with Down Syndrome have 47 chromosomes instead of 46 is because on they were born with an extra copy of chromosome 21.


“The Marf Life” (Marfan Syndrome) Maddie Hughes & Julianna Drambarean Aortic Dissection, Heart Health and Marfan Syndrome Life. (n.d.). : August 2013. Retrieved February 23, 2014, from

1 in 5,000 people, regardless of gender, or race are apart of the “Marf Life”! What is the “Marf Life”? ● The struggles of a person diagnosed with Marfan Syndrome.

The daily complications of MFS is different for everyone that has it. It is sometimes hard to tell if a person has MFS. Some of the symptoms of MFS are: ● ● ● ● ● ● ● ●

Tall and slender Heart problems Long fingers and toes Flat feet Narrow face Loose jointed Indented breastbone Arm span is longer than height The Marfan Syndrome. (n.d.). The Marfan Syndrome. Retrieved February 23, 2014, from

These symptoms cause a variety of medical treatments. Marfan Syndrome has no cure, so a person who has it is stuck with the “Marf Life” forever. There is no cure, but treatments can help delay/prevent problems. The specific treatments depend on the symptoms you have. Treatments are successful to control the symptoms and can help lengthen the lifetime of a person with MFS. Marfan Syndrome is caused by a mutation in the gene that tells the body how to make Fibrillin-1 (FBN1) on chromosome 15. The mutation results in an increase in a protein, called transforming growth factor beta (TGF-B). This increase causes problems in the connective tissue. These connective tissue problems result in the features and medical problems associated with Marfan Syndrome.

Maple Syrup Urine Disease Symptoms: 

Avoiding food


Feeding difficulties



Urine that smells like maple syrup


What it is: It’s when leucine, isoleucine, and valine cannot be broken down and is left in the blood. What type of mutation it is: It’s a recessive gene mutation that affects DNA. History: 1966 a two-week old infant was suddenly very sick and went into a coma. In 1958, His older sibling died for an unknown reason. Who it was discovered by: John H Menke. How do you test MSUD? The infant is screened the day after birth and the results would be gathered within 24 hours. Treatment: One treatment is to eat protein-free diet. Another is to get fluids, sugars and fats through a IV. The future of MSUD: Gene therapy is a possibility. This replaces the mutated gene with a good copy.

Duchenne muscular dystrophy in lives The ways that muscular dystrophy affects people today is it will have them lose mussels and will cause damage or even comes at the yearly ages in childrens lives. muscular dystrophy affects 1 out of 3600 male births a year.

Wednesday, February 25, 2014

The Genetics News All About The Turner Syndrome

Life with PKU Phenylketonuria (PKU) is passed on

names as well, such as Folling’s Disease,

from generation to generation, but is a


recessive trait. It is a disorder that


makes it so you cannot process a certain


part of proteins. With this disorder, one

Hyperphenylalaninemia is a less severe



form of this disorder and people with

phenylalanine (Phe). The brain may

this form may not need to be treated

have damage done to it if too much Phe

medically, but they need to be kept on a


low Phe diet. A medication you can go












PKU, or

phenylalanine hydroxylase (PAH) is




mutated, making it no longer able to

dihydrochloride the Kuvan® brand.

function. The mutation is located on the

Women with PKU are more likely to

gene Phenylalanine Hydroxylase or PAH

suffer with a loss of pregnancy. People

and is on chromosome 12. Most people

with PKU need to be on a lifelong diet

in the United States get tested for PKU

consisting of low Phe foods. These

soon after birth. Symptoms of PKU

include; fruits and veggies, juices, low

include mental retardation, behavioral

protein pastas and breads. A person

problems, seizures, hyperactivity, lack of

with PKU, however cannot eat high

growth or stunted growth, eczema, fair

protein foods, such as milk, dairy

skin, blue eyes, low birth weight,

products, meat, fish, chicken, eggs,

abnormally small head, heart defects,

beans, and nuts.

and nausea or vomiting. Untreated PKU can lead to seizures and learning disabilities. If the amino acids that are missing are not replaced in the person’s diet, there could be many neurological, psychological, growth, and nutrition issues and most times these people’s quality of life is slightly lower. This genetic disorder is called by many other

N.d. Photograph. PKU Primer for Adolescence and Adults. New England Consortium of Metabolic Programs, 18 Sept. 2013. Web. 25 Feb. 2014.

Human Genetic Disorders  

Periods 8-9