Genetic Disorders

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Genetic Disorders

• Honors Biology

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1. Cystic Fibrosis

• Inheritance Pattern
• Autosomal Recessive
• Description
• Affects the lungs and digestive system
• The body produces very thick, sticky mucus
• clogs the lungs
• blocks the pancreas enzymes from breaking down
  and absorbing food

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1. Cystic Fibrosis
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2. Tay Sachs

• Inheritance Pattern
• Autosomal recessive
• Description
• Appear healthy at birth
• Lack an enzyme results in nervous system damage
• Usually die by age 5
• More common in people of Jewish, Irish,
  French-Canadian heritage

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2. Tay Sachs
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3. Sickle Cell Anemia

• Inheritance Pattern
• Co-dominance
• Need two copies
• Description
• Pain, infections, organ damage
• Heterozygous version sickle cell trait
• More resistant to malaria
• Can still pass it on to offspring

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3. Sickle Cell Anemia
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4. Achondroplasia

• Inheritance Pattern
• Autosomal Dominant
• FGFR3 gene
• A mutation can occur, leading to this condition
  from average-size parents
• Description
• Bone growth disorder
• Short stature and shorter limbs

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4. Achondroplasia
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5. Huntingtons Disease

• Inheritance Pattern
• Autosomal dominant
• Description
• Degenerative neurological disorder
• Symptoms usually appear in 40s
• Initially mood swings, depression
• Over time dementia and complete loss of motor
  control

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5. Huntingtons Disease
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6. Hemophilia

• Inheritance Pattern
• X-linked recessive
• Occasionally (no family history) caused by a
  mutation
• More common in males, females can be carriers
• Description
• Blood does not clot properly

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6. Hemophilia
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7. Down Syndrome

• Inheritance Pattern
• Chromosome alteration non-disjunction
• Trisomy 21
• Description
• Can range from mild to severe cognitive and
  physical challenges
• Congenital heart disease
• Hearing problems, eye problems

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7. Down Syndrome
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8. Duchenne Muscular Dystrophy

• Inheritance Pattern
• X-linked recessive
• Description
• Initial muscle weakness
• Affects all voluntary muscles
• Generally diagnosed before age 6
• Rare to live beyond age 30

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8. Duchenne Muscular Dystrophy
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9. Klinefelters Syndrome

• Inheritance Pattern
• Chromosome alteration non-disjunction
• Extra sex chromosome XXY
• Description
• Can affect physical, language and social
  development
• Generally infertile

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9. Klinefelters Syndrome
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10. Turner Syndrome

• Inheritance Pattern
• Chromosome alteration non-disjunction
• Only 1 sex chromosome X (X0)
• Description
• Varying characteristics (physical cognitive)
• High blood pressure, kidney problems
• Generally infertile

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10. Turner Syndrome
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11. Phenylketonuria (PKU)

• Inheritance Pattern
• Autosomal recessive
• Description
• Cannot break down the amino acid phenylalanine
  can cause brain damage
• Newborn screening
• Treatable follow a special diet

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11. Phenylketonuria (PKU)
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11. Galactosemia

• Inheritance Pattern
• Autosomal recessive
• Description
• Cannot break down the sugar galactose toxic
  chemicals build up in cells
• Damages kidneys, liver, brain and eyes
• Newborn screening
• Treatable strict diet avoiding galactose

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11. Galactosemia