AP Bio Extra Credit

8/3/2019 AP Bio Extra Credit

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Achondroplasia

a)This disease occurs on chromosome 4 on the FGFR3 gene.b)This disease can be detected before birth by performing an ultrasound.c)The child is more likely to contract this disease from the father due to

spermatogenesis.d)While there is no treatment for Achondroplasia, there is therapy and

surgery for those that wish to lengthen their bones but these are neither

long term nor desirable treatments.

e)Achondroplasia is an Autosomal Dominant disease.f)

Achromatopsia

a)This Mutation occurs on the GAA gene on chromosome 17.b)Infantile symptoms include feeding difficulties and flaring nostrils due to

respiratory distress while late onset symptoms include impaired cough

and progressive muscle weakness.

c)This disease is more commonly found in children.d)There is no cure for this disease but there is therapy.e)This gene is an Autosomal Recessive gene.f)


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Adrenoleukodystrophy

a)This disease is located on the X chromosome at locus Xq28.b)Symptoms include ADD, Brain tumors, and Epilepsy. Diagnosis

includes MRI, VLCFA level testing, and testing of Adrenal function.

c)Males are most affected by this disease due to the mutation on the Xchromosome. Women can only be carriers.

d)Treatments for this disease range from bone marrow transplants tospecial diets.

e)ALD is an X-linked Recessive Gene that affects males only.f)

Aicardi Syndrome

a)This disease is said to be located on the X or Y chromosome though itaffects only girls.

b)Symptoms include infantile spasms at the ages of 3 to 5c)Evidence points to this disease affecting girls onlyd)Treatment for this disease is controlling the seizures and spasms that

occur

e)Science is unsure as to whether this disease it Autosomal, X-Linked,Dominant, or Recessive.

f)


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Barth Syndrome

a)This gene mutation occurs on the X chromosome.b)Symptoms of this disease are weak heart, delayed growth, and a low

white blood cell count.c)This syndrome is seen mostly in males.d)While there is no specific treatment for Barth syndrome, there are

treatments for the side effects such as drugs that can help increase whiteblood cell count.

e)This gene is an X-linked Recessive diseasef)

Cystic Fibrosis

a) This gene mutation occurs on Chromosome 7.

b) Symptoms include salty tasting skin and frequent chest infections.

c) Caucasian Males are most at risk with Ireland having the highestincident of CF in the world.d) The treatment for CF includes Antibiotics to suppress infections and

Lung Transplant

e) CF is an Autosomal Recessive disease.

f)


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Fragile X Syndrome

a) This Gene occurs on the X chromosome.b) Symptoms include speech impediments and learning disabilities.

c) Males are most affected by this disease due to its location on the Xchromosome.

d) There is behavioral therapy for children with this disease as well as specialeducation.e) This disease is an X-linked Recessive disease.

f)

Haemophilia A

a) Haemophilia is located on the X chromosome.

b) Symptoms of Haemophilia are internal bleeding and bleeding within joint

spaces.c) Males are most at risk because they only need one affected X chromosome

to inherit the disease though girls can also be affected.

d) There is no cure for Haemophilia but it can be controlled with regular

injections of the deficient clotting factor along with some exercises that mayhelp strengthen joints.

e) Haemophilia is an X-linked Recessive disorder.

f)


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Krabbes Disease

a) This disease is located on chromosome 14 on gene 14q31.b) Symptoms begin at 3-6 months with fevers, limb stiffness, feeding

difficulties, and seizures.c) Some Arab communities have reported a higher than average rate at 1 in

6,000 with the average being 1 in 100,000 births.d) Treatment includes Bone Marrow Transplant which has proven beneficialin cases early in the course of the disease.

e) Krabbes is inherited in an Autosomal Recessive pattern.f)

Neurofibromatosis type 1

a) This disease occurs on Chromosome 17 locus: 17q11.2.b) Symptoms include Morbidity and increased chances of Leukemia and

epilepsy.

c) All genders and races are equally at risk of this disease.

d) There is no cure for this disease only surgery to remove the cancerousgrowths that may develop due to the disease.

e) Neurofibromatosis type 1 and 2 are both Autosomal Dominant disorders.

f)


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http://www.sandoz.sk/home.php?id=90&category=4&subid=348&l2_id=350&lang=en

http://en.wikipedia.org

http://www.ninds.nih.gov/disorders/

http://www.nlm.nih.gov/medlineplus/

AP Bio Extra Credit

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