common genetic disorders. cystic fibrosis recessive facts: mucus in lungs & digestive tract is...
DESCRIPTION
PKU-Phenylketonuria Recessive Facts: Missing an enzyme that breaks down phenylalanine (found in milk) Phenylalanine accumulates in the CNS Symptoms: mental retardation, abnormal growth patterns Incidence: more common in Irish/ rare in African Americans & Japanese Treatments: Test newborns, change dietTRANSCRIPT
Common Genetic Disorders
Cystic FibrosisRecessiveFacts: mucus in lungs & digestive tract is very
thick ; caused by point mutationSymptoms: makes breathing & digestion
difficult
Incidence: most common in Caucasians(whites) 1 in 2000 white; 1 in 25 carry recessive allele.
Treatments: frequent lungs infections, daily therapy is needed to loosen & remove mucus
PKU-PhenylketonuriaRecessiveFacts: Missing an enzyme that breaks down phenylalanine (found in milk)Phenylalanine accumulates in the CNSSymptoms: mental retardation, abnormal growth patternsIncidence: more common in Irish/ rare in African Americans & JapaneseTreatments: Test newborns, change diet
Sickle-Cell AnemiaRecessive & CodominantFacts: sickle-shaped blood cells
block/clot up blood vessels; point mutation
Symptoms: pain in joints, anemia, weakness
Incidence: 1 in 375 African AmericansTreatments: bone marrow transplants,
medicines
Down’s Syndrome (Trisomy 21)
Nondisjunction (during Meiosis)Facts: most common reason for mental
retardation; chromosomes failed to separate
Symptoms: mental retardation, slanted eyes
Incidence: 1 in 900; most cases not inherited
Treatments: none
Turner’s SyndromeNondisjunctionfemale, only 1 X b/c of NondisjunctionSymptoms: sterile, lack of sexual
development(no ovaries), short stature
Incidence:Treatments: none
HemophiliaRecessive, sex-linked
Facts: blood does not have clotting factors
Symptoms: bleed excessively or to deathIncidence: mainly in males (in the Royal
Family)
Treatments: inject themselves with purified clotting factors to prevent or stop bleeding
Color-blindnessRecessive, x-linked disorderFacts: Cones in eyes(color receptors) are
absent or lack of pigmentSymptoms: cannot tell difference between
certain colorsIncidence: mainly in males- passed from
mother; red-green color blindness most common
Seeing only black/white is rareTreatments: none See the next slide if you are interested in
extra credit---
For extra credit on the binder check, continue with a chart just like the one you just finished
including the following disorders:
• Tay-Sachs • Progeria• Albinism• Huntington’s Disease• Klinefelter Syndrome(2 pts. For each one you do extra = 10 pts.)