Human Genetic Disorders and Pedigrees

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Human Genetic Disorders and Pedigrees

• Christopherson

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Human Genetics Karyotypes

• 46 TOTAL
• 23 homologous pairs

46 TOTAL 23 homologous pairs
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Sex Chromosomes

• 2 sex chromosomes
• Typical Female XX
• Typical Male XY

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Autosomes

• Autosomes Any chromosome thats not a sex
  chromosome
• 44 Autosomes
• 22 pairs of Autosomes

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Recessive Disorder
Caused by 2 recessive alleles
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Albinism
Defect of melanin production that results in
little or no color in the skin, hair, and eyes
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Albinism
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Albinism
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How does it happen?Affected Genotype aa
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Cystic Fibrosis

• Disease that causes the body to produce unusually
  thick, sticky mucus that
• Clogs the lungs and leads to lung infections
• Obstructs the pancreas
• Stops natural enzymes from helping the body
  break down and absorb food

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How does it happen?Affected Genotype cc
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Sickle Cell Anemia
Caused by an abnormal hemoglobin shape which
causes the red blood cells to have a crescent
shape. Red blood cells carry oxygen.
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How does it happen?Affected Genotype ss
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Dominant Disorder
Caused by a dominant allele Affected individuals
are homozygous dominant or heterozygous
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Huntingtons Disease
Causes the break down of brain cells, (neurons)
in certain areas of the brain. Causes
uncontrolled movements, loss of intellectual
faculties, and emotional disturbance.
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How does it happen?Affected Genotype HH or Hh
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Sex-Linked Disorder
Linked to sex chromosomes Recessive Disorders
caused by recessive alleles
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Color Blindness
Inability to see colors in the normal way
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How does it happen?Affected GenotypesXbXbXbY
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Hemophilia
Inability of the blood to clot properly
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How does it happen?Affected GenotypesXhXhXhY
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What is a Pedigree???
Diagram showing a family tree and patterns of
inheritance.
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Types of Pedigrees Recessive
Affected Genotypes bb Unaffected Genotypes
BB or Bb
HINT Recessive Disorders skip generations
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Is the Pedigree below showing Recessive
Inheritance?
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Recessive Inheritance?
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Recessive Inheritance?
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Types of Pedigrees Sex-linked
Affected Genotypes XbXb or
XbY Unaffected Genotypes XBXB or XBXb
and XBY
HINT Mainly males are affected
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Is the Pedigree below showing Sex-Linked
Inheritance?
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Sex-linked Inheritance?
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Sex-linked Inheritance?
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Types of Pedigrees Dominant
Affected Genotypes BB or Bb Unaffected
Genotypes bb
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Is the Pedigree below showing Dominant
Inheritance?
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Dominant Inheritance?
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Dominant Inheritance?
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How many generations?
What is genotype of Individual I-1?
What type of Inheritance?
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How many generations?
What is genotype of Individual I-1?
What type of Inheritance?