recall: autosome - any chromosome other than the x & y (humans have 22 pairs of autosome + 1...
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Human Genetic Disorders
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Recall: Autosome - any
chromosome other than the X & Y (humans have 22 pairs of autosome + 1 pair of sex chromosomes)
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Autosomal Recessive Disorders Most affected
children have unaffected parents
Heterozygotes (carriers) are unaffected
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Autosomal Recessive DisordersTay - Sachs Disease More common
among Jewish populations
Young children begin showing signs of slowed development
Severe impairment and death
Build up of lipids in the body – lysosomes do not function properly
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Autosomal Recessive Disorders
Cystic Fibrosis More common in
Caucasians Mucus in
respiratory tract, difficulty breathing
Extreme salty sweat
Mucus may cause secondary infections
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Autosomal Recessive Disorders
Phenylketonuria (PKU) Lack enzyme for
normal metabolism Phenylalanine builds
up and causes brain damage
Newborns are routinely tested
Changes in diet lead to normal life
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PKU
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Can be managed if caught early
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Autosomal Recessive Disorders
Sickle Cell Disease More common
in Africans (African-Americans)
Causes blood to be sickle shaped
Affects oxygen flow to organs, causing weakness, pain, anemia, etc
Heterozygotes are resistant to malaria
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Sickle-Cell Anemia
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Autosomal Dominant Disorders
Affected children usually have an affected parent
Heterozygotes are effected
Two heterozygotes (Hh x Hh) can produce a normal (hh) child
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Autosomal Dominant DisordersHuntington Disease Neurological disorder, progressive
degeneration of the brain Symptoms appear later in life (40s,
50s)
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Huntington’s Disease
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Huntington’s Disease
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Autosomal Dominant Disorders
Achondroplasia Common form of Dwarfism Short arms and legs, normal
torso Homozygotes (AA) do not
survive
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Achondroplasia
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Autosomal Dominant DisorderHypercholesterolemia Incomplete dominance Caused by a recessive allele, however in
the heterozygous form (Hh), individuals have 2x the normal blood cholesterol levels
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Can lead to Atherosclerosis