Genetic Disorders

Sickle Cell Anemia


 Autosomal recessive gene
 Cause = point mutation (base substitution) in gene for hemoglobin.
 Results = blood cells have a deformed, sickle shape. They get caught
in blood vessels and restrict blood flow to tissue causing damage, pain,
and possibly death. They break leading to a lower red blood cell count.
 Symptoms = fatigue, headaches, muscle cramps, kidney and heart
damage.
 Occurs most in = people of tropical African descent.
 Heterzygotes have some normal and some sickle red blood cells. They
are at a lowered risk for malaria (deadly tropical disease) because of
this condition. Up to 45% of central African population is a
heterozygote. With medical treatment suffers can live a normal life.

Cystic Fibrosis

 Cause = mutation in gene for the transport protein (plasma/cell
membrane)responsible for transporting chloride ions
 Result = misshapen transport protein in cells of digestive tract and
respiratory system, mucus accumulation in lungs and pancreas.
 Symptoms = difficulty breathing and digesting food, many lung
infections.
 Occurs most in = white Americans; 1 in 2,000 has cystic fibrosis.
 Treatment = drug therapy, special diets, new gene therapy. Treatment
has raised the life expectancy of those with Cystic Fibrosis past
childhood.
 Death usually 40’s to 50’s.
 Cystic Fibrosis - Autosomal recessive gene.

Huntington's Disease

Huntington’s Disease


 Huntington’s Disease = autosomal dominant gene.
 Cause = rare dominant allele
 Results = breakdown of certain areas of the brain and central nervous
system.
 Symptoms = deterioration of the central nervous system (the brain),
jerky movements, mental deterioration. This is a lethal allele - its KILLS
those who have it!
 This disorder does not appear until the individual is between the ages of
30 to 50. Since it is a dominant gene and kills those who have it, it
would normally be removed from the population (How can it stick
around if it kills everyone who has it?). But by the time the disorder
appears, individual have already reproduced and passed on the gene.
 There is a genetic test developed for Huntington’s Disease. This helps
individuals with the disorder decide if they will have children.



Hemophilia

 Hemophilia - X-linked recessive gene.
 Cause = mutation in gene builds a defective forms of a protein needed
to clot blood.
 Result = blood does not clot.
 Symptoms = difficulty in healing, bleeding without stoping, internal
bleeding, lots of brusing, arthritis (long term).
 Occurs most in = males.
 Men have the disease if have one recessive gene since they have only
one X chomosome. Women must have two recessive copies in order to
have this disorder since they have two copies of the X chromosome.
Down's Syndrome

Down’s Syndrome


 Down’s Syndrome = Chromosomal mutation.
 Cause = 3 copies of chromosome 21. This result from non-disjunction -
when the homologous chromosomes fail to separate during meiosis.
 Results and Symptoms = some mental retardation, short stature, broad
nose, extra folds on the upper eye lids.
 Higher occurrence in mothers over 40, about 1 in 16 instead of 1 in
1,000.