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Honors Biology Genetic Disorders
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1. Cystic Fibrosis Inheritance Pattern Description Autosomal Recessive
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 Description Autosomal recessive
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 Description 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 Description 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. Huntington’s Disease Inheritance Pattern Description
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. Huntington’s Disease
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6. Hemophilia Inheritance Pattern Description 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 Description
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. Klinefelter’s 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. Klinefelter’s Syndrome
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10. Turner Syndrome Inheritance Pattern Description
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 Description Autosomal recessive
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
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