Student summaries of selected human genetic traits

Neurofibromatosis (NF2) is an autosomal dominant genetic disorder affecting approximately 1 out of every 4000 births in America.  This disorder affects the nervous system and includes sporadic development of tumors on the nerves.  Common symptoms include hearing problems, hearing loss, and trouble balancing and can only be treated with surgery or radiation treatment.

Parkinson's Disease, Familial, Type 1 is a common disease affecting approximately 1% of the population.  It's symptoms are characterized by stiffness, tremor, and overall complication of motor abilities.  It is an autosomal dominant trait.

Hemophilia is a rare disease that affects a small proportion of the U.S.  The trait is X-linked recessive.

Nonsyndromic Sensorineural Deafness is an Autosomal Dominant trait because it is never expressed unless one of the parents expresses the disease.  Also the disease does not skip generations if it is present in one of the parents.

Werner's Syndrome is an autosomal recessive disorder that is located on chromosome 8 at about 76.8 bp.  It is a disease which causes cells and humans to age at a very rapid pace.  The life span for these individuals isn't very long, but it is long enough for the affected individual to reproduce.  This is a disease that is easily seen in the wrinkled and worn face of a teenager who looks 70.

Huntington's disease is a cureless and fatal degenerative neurological disorder discovered in the late 1800s.  Symptoms of the disease are continual body movements leading to dementia.  Huntington's disease is inherited autosomally as a dominant trait and is usually an adult onset.

Marfan's Syndrome is an autosomal dominant trait.  This trait affects the fibrillin in connective tissues. This weakens such tissues as ligaments and artery walls.

Cystic fibrosis is an autosomal recessive genetic disease characterized by the production of thick, sticky mucus that severely impacts the proper functioning of the affected individual's airway, liver, pancreas, small intestine and reproductive tract. The key mechanism of the disease involves a defective transport mechanism for sodium and chloride through epithelial cells. The standard diagnostic test for CF measures the amount of salt in sweat. Elevated levels are indicative of CF. Early recognition of this "diagnostic" symptom can be found in an adage from northern European folklore. "Woe to that child which when kissed on the forehead tastes salty.  He is bewitched and soon must die."

Albinism Type II is also known as oculocutaneous albinism (OCA2).  People who have this disease have inherited genes that do not make the usual amounts of pigment, called melanin. This results from a defect in a different gene called the "P" gene.  People with Type II have slight pigmentation in their eyes, skin, or hair and live normal lifespans.  The mode of inheritance is autosmal recessive.

People displaying the deuteran color-blindness phenotype are missing the photoreceptors in their eyes that detect green light, thereby preventing them from distinguishing certain colors from one another.

Myotonic Dystrophy is an autosomal dominant trait that primarily affects the muscles, nerves, heart, and digestive tract.  Muscle weakness is accompanied by myotonia and is caused by an amplification of a trinucleotide repeat that normally appears in the 3-prime untranslated region of a protein kinase gene.
 
 

For questions, comments and additional information, contact  mfhicks@pstcc.edu
Last Updated: October 7, 2002
Site map: Margaret F. Hicks Home - Biology 2120 - Notes - Chromosomal Aberrations


 
 






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