genetic diseases and disorders

Question 1

marfans syndrome

Answer 1

autosomal dominant
mutation of chromosome codes for fibrillin
long spindly limbs
hyperextendable joints
depressed sternum
pigeon chest
scoliosis
bilateral lens distension
myopia
retinal detachment
aortic lens dissection

Question 2

huntingtons disease

Answer 2

autosomal dominant
defect on chromosome 4 causing CAG repeats 36-120
each generation has repeats happening earlier
huntington chemical buildup on the brain
jerky movement
wide gait
dementia
meds to treat symptoms but no cure

Question 3

PKU

Answer 3

autosomal recessive
elevated levels of phenylelanin because deficiency of phenylalanine hydrolase that turns phenylalanine into tyrosine
due to protein and artificial sweeteners during pregnancy
gradual onset in infants
impaired brain development
seizures
decreased pigmentation
eczema
mental retardation if left untreated

Question 4

tay sachs disease

Answer 4

Autosomal recessive
askanazi jewish community
ganglioside GM2 buildup in tissue and nerves cekks
normal development at first, impaired swallowing, blindness, deafness, paralysis, seizures, coma, death
fatal by 5

Question 5

cystic fibrosis

Answer 5

autosomal recessive
deletion of three gene pairs and abnormal protein delta F508 CFTR
chloride ions and water can not leave the cell causing mucous buildup in the lungs, colon, GU, pancreas
recurrent lung congestion, infections, malabsorption symptoms, anemia, diabetes, infertility (sweat test)
treat symptoms but no cure

Question 6

sickle cell

Answer 6

Autosomal recessive
mutation of hemoglobin genes substitutes glutamic acid into the beta chain
stiff, malformed RBC that break easily
weakness, anemia, sob, pain, MI, stroke, organ dysfunction, failure to grow
o2, blood transfusions, sickle cell clinics

Question 7

thalassemia major

Answer 7

autosomal recessive
delation of alpha/ beta globin on chromosome 11
alpha asain, beta greek and italian
deficient amount, more fragile RBCs
anemia, bone pain, sob, failure to thrive
blood transfusions, meds for iron toxicity, bone marrow transplants

Question 8

x linked disorders

Answer 8

recessive
women pass on to their suns
women are pretty much always carriers because they have a second x to counteract

Question 9

hemophilia

Answer 9

recessive
spontaneous mutations of genes that inhibit clotting factors
Hemophilia A affecting clotting factor seven
can not produce thrombi to stop bleeding
found incidentally
excessive bleeding, hematomas, hemorrhage, bleeding into joints

Question 10

down syndrome

Answer 10

trisomy 21
delayed growth, fat pad back of the neck, flat facial profile, mental retardation
can live normal life with resources but higher disposition to leukemia and Alzheimer’s
pre natal testing

Question 11

progeria

Answer 11

mutation of the LMNA gene
in children: rapid premature aging, death by 13
adult: mutation of chromosome 8 onset late teens death by 40-50