honors biology. 1. cystic fibrosis inheritance pattern autosomal recessive description affects the...
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Honors Biology
1. Cystic Fibrosis Inheritance Pattern
Autosomal Recessive
DescriptionAffects the lungs and digestive systemThe body produces very thick, sticky mucus
○clogs the lungs○blocks the pancreas & enzymes from
breaking down and absorbing food
1. Cystic Fibrosis
Inheritance PatternAutosomal recessive
DescriptionAppear healthy at birthLack an enzyme – results in nervous
system damageUsually die by age 5More common in people of Jewish,
Irish, French-Canadian heritage
2. Tay Sachs
2. Tay Sachs
3. Sickle Cell Anemia Inheritance Pattern
Co-dominanceNeed two copies
DescriptionPain, infections, organ damageHeterozygous version = sickle cell trait
○More resistant to malaria○Can still pass it on to offspring
3. Sickle Cell Anemia
4. Achondroplasia Inheritance Pattern
Autosomal DominantFGFR3 gene
○A mutation can occur, leading to this condition from average-size parents
DescriptionBone growth disorderShort stature and shorter limbs
4. Achondroplasia
5. Huntington’s Disease Inheritance Pattern
Autosomal dominant
DescriptionDegenerative neurological disorderSymptoms usually appear in 40sInitially: mood swings, depressionOver time: dementia and complete loss
of motor control
5. Huntington’s Disease
6. Hemophilia Inheritance Pattern
X-linked recessiveOccasionally (no family history) caused
by a mutationMore common in males, females can
be carriers
DescriptionBlood does not clot properly
6. Hemophilia
7. Down Syndrome Inheritance Pattern
Chromosome alteration: non-disjunctionTrisomy 21
DescriptionCan range from mild to severe cognitive
and physical challengesCongenital heart diseaseHearing problems, eye problems
7. Down Syndrome
8. Duchenne Muscular Dystrophy
Inheritance PatternX-linked recessive
DescriptionInitial muscle weaknessAffects all voluntary musclesGenerally diagnosed before age 6Rare to live beyond age 30
8. Duchenne Muscular Dystrophy
9. Klinefelter’s Syndrome Inheritance Pattern
Chromosome alteration: non-disjunctionExtra sex chromosome: XXY
DescriptionCan affect physical, language and
social developmentGenerally infertile
9. Klinefelter’s Syndrome
10. Turner Syndrome Inheritance Pattern
Chromosome alteration: non-disjunctionOnly 1 sex chromosome: X (X0)
DescriptionVarying characteristics (physical & cognitive)
High blood pressure, kidney problemsGenerally infertile
10. Turner Syndrome
11. Phenylketonuria (PKU) Inheritance Pattern
Autosomal recessive
DescriptionCannot break down the amino acid
phenylalanine – can cause brain damageNewborn screeningTreatable – follow a special diet
11. Phenylketonuria (PKU)
11. Galactosemia Inheritance Pattern
Autosomal recessive
DescriptionCannot break down the sugar galactose
– toxic chemicals build up in cellsDamages: kidneys, liver, brain and eyesNewborn screeningTreatable – strict diet avoiding galactose
11. Galactosemia