Honors Biology. 1. Cystic Fibrosis Inheritance Pattern Autosomal Recessive Description Affects the...

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

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

Honors Biology. 1. Cystic Fibrosis Inheritance Pattern Autosomal Recessive Description Affects the...

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