GENETIC DISORDERS – Divide the disorders below between the people on your team. You will have 20 minutes to fill out the chart for each disorder. After the 20 minutes you will then share the disorders with each member of your team.
Name of Disorder
Achondroplasia
Brendan
Cause
Mutation of the FGFR3
(Fibroblast
Growth Factor
Receptor 3)
Gene on
Chromosome
4.
Color Blindness
X CHROMOSOME
MUTATION, CAN
BE MUTATIONS
FROM 19
DIFFERENT
CHROMOSOMES
AND 56 GENES
Brett
Cystic Fibrosis
Brett
Duchenne Muscular
Dystrophy
Alex
How Inherited
Autosomal Dominant Pattern
(One copy of the altered gene in each cell will cause the disorder). Inherit one mutated copy of FGFR3 from one parent. If two mutated copies are inherited from both parents individual dies.
CONGENITAL (FROM BIRTH)
OR IT CAN COMMENCE IN
CHILDHOOD/ADULTHOOD
Mutation in a gene that changes a protein which regulates the movement of salt in and out of cell.
It is inherited from a child's parents, and is a recessive gene. Children need to inherit one copy of the gene from each parent in order to have the disease. If children inherit only one copy, they won't develop cystic fibrosis, but will become carriers.
Absence of dystrophin(pro tein that helps keep muscle cells intact) on
X linked recessive pattern.
Male inherits one X & Y chromosome. If X is mutated, then they will have DMD.
Females inherit two X
Symptoms or signs
● Short Stature, Short arms and legs, short fingers
● Abnormally large head compared to the rest of the body
● Underdeveloped mid-face region
3 LEVELS OF COLORBLINDNESS.
- TOTAL = CANNOT SEE COLOUR AT ALL
- RED-GREEN =
HARD TIME DIFFERENTIATING RED AND GREEN
HUES.
- BLUE-YELLOW = DIFFICULT TO DISCRIMINATE BETWEEN BLUE
AND GREENISH HUES, AS WELL AS YELLOW AND REDDISH HUES.
-
Foul-smelling greasy stools
Poor weight gain and growth
Intestinal blockage
Severe constipation
A persistent cough that produces thick spit (sputum) and mucus
Wheezing
Breathlessness
A decreased ability to exercise
Repeated lung infections
Inflamed nasal passages or a stuffy nose.
enlarged calf muscles, preschoolers may be clumsy, children are late walkers and walk on their toes or ball of feet, difficulty raising their arm, they stick out their belly and pull back their shoulders when they walk Gaucher Disease
Lauren F
Hemophilia
Alex
Hereditary Coproporphyria
Brendan
Name of Disorder
Huntington’s Disease lauren H
Krabbe Disease
Alexis
the X
Chromosome
Mutation occurs in the
GBA gene which breaks down glucose into ceramide.
chromosomes & one of those can be mutated.
Autosomal recessive pattern, both parents carry the gene but both may not show signs or symptoms of the disease.
Mutation on the gene for factor VIII that creates clotting. Found on X chromosome Lack of enzyme coproporphyri nogen oxidase
,
which comes from the CPOX gene. Cause progressive brain disorder caused by a single defemooctive gene on chromosome 4
X linked recessive pattern.
Daughter gets X from mom & mutated X from dad. Son gets mutated X from mom &
Y from dad.
Two mutated copies of a particular gene results in little or no
Inherited in an autosomal pattern. Parents passing on gene to child. Usually shows signs in infants, but can show
Inherited autosomal dominant (present in one pair of genes). Some homozygous individuals have been identified.
How Inherited one or both parents that have it pass it on and you have it from birth or rarely a person can get it and it not be inherited from either parent.
Type 1-Enlargement of the liver and spleen, low number of red blood cells, easy bruising caused by a decrease in blood platelets, lung disease, and bone abnormalities such as bone pain, fractures, and arthritis. Type 2&3- Also includes abnormal eye movements, seizures, and brain damage Perinatal lethal form- extensive swelling caused by fluid accumulation before birth (hydrops fetalis); dry, scaly
