By: Jack Wernet

 “A gene on one of the non-sex chromosomes that is always expressed, even if only one copy is present.” (Human Genome Project Information at the U.S. Department of Energy)  “Autosomal” “The gene in question is located on one of the numbered, or non-sex, chromosomes”  “Dominance” “A single copy of the disease associated mutation is enough to cause the disease.”

 Hybrid reproduction with the recessive gene results in a 50% chance for disease in the offspring.

 A full list of genotypes and phenotypes  Keeps track of genetic diseases

 OMIM –  Autosomal Dominant  Discovered in 1903 by William Curtis Farabee  This was the 1 st record of this disease.  In 1951 it was classified as type A1 Brachydactyly  Treatment for this disease is not needed

 Born with the disease  Short Fingers and Toes  Normal lives  There are many different forms of Brachydactyly.

 OMIM –  The gene was discovered in 1933 by many researchers.  Usually appears around the ages (live about 15 yrs after signs)  Excess CAG triplet mutation in HTT Protein  Loss of Neurons  Nothing to cure or stop this disease  Goal of any treatment is to slow the process of the destruction of these neurons “Symptoms include: poor memory, depression and/or mood swings, lack of coordination, twitching or other uncontrolled movements, and difficulty walking, speaking, and/or swallowing. In the late stages of the disease, a person will need help doing even simple tasks, such as getting dressed.” (The University of Utah)

 In all cells of the body  Selectively kills nerve cells  HD patients affect a group of nerve cells at the base of the brain called basal ganglia.  It controls the muscle driven movements of the body.  HD Basal Ganglia is smaller, affecting these movements

 OMIM –  Can be passed down to children  Can also occur by a genetic mutation  Affects how nerve cells form and grow.  Forms small benign tumors – neurofibromas  No cure yet, but tumor can be surgically removed.  Also symptoms can be treated.  2 major types:  NF1  NF2

 “Causes skin changes and deformed bones and usually starts at birth.” (Medline Plus)  This type is present at birth

 “Causes hearing loss, ringing in the ears and poor balance. It often starts in the teen years.” (Medline Plus)  Usually begins in a teenager.

 OMIM –  First described and named after Antoine Marfan in 1896  Causes defects in the protein Fibrillin  No cure yet, but all symptoms can be treated.

 A protein that is a part of the connective tissue in the body.  A defect in Fibrillin causes a defect in the connective tissue.  Causes extremely long arms, fingers, a very tall body structure, and loose joints. Symptoms include: spider like fingers, flat feet, learning disabilities, flexible joints, small lower jaw, and a chest that sinks in or out.

 1% of all cases of Alzheimer is inherited  Usually occurs over the age of 65  Caused by a mutation in the APP gene  There is no cure or treatment to slow down the process of Alzheimer  Symptoms can be treated This disease can result in frequent memory loss, mood swings, loss of confidence and difficulty performing everyday activities.

 Creates amyloid precursor proteins  Mutation in the gene results in a mutation in the protein.  This creates an excess amount of amyloid β peptide which causes Alzheimer disease.

Huntington disease usually appears around age: a. at birth b c d. 65

Huntington disease usually appears around age: a. at birth b c d. 65

A mutation in the APP gene causes what disease? a. Alzheimer Disease b. Huntington Disease c. Neurofibromatosis d. Brachydactyly

A mutation in the APP gene causes what disease? a. Alzheimer Disease b. Huntington Disease c. Neurofibromatosis d. Brachydactyly