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Pedigrees and Genetic Disorders

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Mitchell Volz

on 17 January 2013

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Transcript of Pedigrees and Genetic Disorders

A pedigree is a family tree representing the
occurrence of heritable traits in parents and offspring across a number of generations Pedigrees Pedigree Key Questions Genetic Disorders structure of a pedigree In a pedigree each generation has its own Tier A genetic disorder is a disease that is caused by an abnormality in an individual's DNA. Dominant Disorder Huntington's Disease Achondroplasia Recessive disorders Cystic Fibrosis Albinism Carriers A Carrier is an individual who is heterozygous for a recessive disorder and as such does not show the symptoms of that disorder. Inbreeding A mating between close blood relatives

Inbreeding can cause a recurrence of genetic disorders Dominant disorders are caused by dominant alleles

At least one dominant allele must be present for this disorder to be expressed Most genetic disorders are recessive The disorders mentioned are all controlled by a single gene and are known to be inherited as dominant or recessive traits All are located on the Autosomes or chromosomes other than the sex chromosomes X and Y Oftentimes people born with recessive disorders have parents who are carriers. Huntington's disease is a disease that causes nerve cells in the brain to degenerate and is characterized by uncontrollable body movements and degeneration of the nervous system

Some Symptoms include:
•Hallucinations
•Psychosis
•Dementia
•Memory Loss
•Personality changes

Usually fatal 10 to 20 years after the onset of symptoms.

There is no cure for Huntington's Disease nor is there a way to slow down the advancement of it Effects the production of melanin resulting in little or no pigment in the skin, hair, and eyes.

Symptoms include
•Absence of color in the hair, skin, or iris of the eye
•Lighter than normal skin and hair
•Patchy, missing skin color Achondroplasia is a disorder of bone growth that causes the most common type of dwarfism.

Symptoms include
•Bowed legs
•Decreased muscle tone
•Prominent forehead
•Shortened arms and legs
•Short stature



There is no treatment for Achondroplasia Characterized by excessive mucus in the lungs and pancreas which causes a high vulnerability to infection

Pneumonia like symptoms

If untreated it is fatal

Most common lethal genetic disease in the United States

Affects 30,000 people in US and 70,000 worldwide. Recessive disorders are only expressed if the individuals are homozygous recessive. What is a pedigree?

Autosomal chromosomes exclude what other chromosomes?

Is a carrier of a dominant disorder afflicted with the disease?

Why is inbreeding bad?

http://www.u.arizona.edu/~joas/cmappedigree.gif http://www.u.arizona.edu/~joas/cmappedigree.gif http://3432-stoollala.voxcdn.com/wp-content/uploads/2010/09/weeman.jpg http://nomasons.files.wordpress.com/2012/01/albino-black-woman.jpg http://www.helsinki.fi/~tsjuntun/autogscan/loop_pedigree.png Marfan syndrome Cystinosis http://upload.wikimedia.org/wikipedia/commons/b/b9/Abraham_Lincoln_standing_portrait_1863.jpg Marfan syndrome is a disorder of connective tissue, the tissue that strengthens the body's structures.

The gene defect causes growth of the long bones of the body. This causes tall height and long arms and legs seen in people with this syndrome.

Other symptoms include:
•A chest that sinks in or sticks out
•Flat feet
•Joints that are too flexible
•Learning disability
•Nearsightedness
•Spine that curves to one side (scoliosis) Cystinosis is a rare recessive genetic disease that affects approximately 500 people in the United States and about 2,000 people worldwide.

Cystinosis causes the amino acid "cystine" to accumulate in the body. Over time, this damages many organs including the kidneys, liver, muscles, white blood cells, eyes, and central nervous system.

Although there is medicine that prolongs the lives of the afflicted there is no cure for it.

Symptoms of Cystinosis include: excessive thirst, slow growth, and pale complexion. Overtime, cystine crystals can appear in the eyes and can cause sensitivity to light (photophobia).
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