Human Disease through Heredity

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Human Disease through Heredity
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Huntington Disease

• Neurodegenerative Genetic Disorder that affects
  muscle coordination and some cognitive functions
• The disease is caused by a dominant mutation on
  the gene called huntington
• Any child of an affected parent has a 50 chance
  of inheriting the disease. If both parents are
  afflicted the risk jumps dramatically

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Cystic Fibrosis

• Noted by difficulty breathing which results from
  frequent lung infections that can be treated
  though not cured.
• Caused as a result of homozygous recessive gene
• Unable to produce enzyme (protein) to break down
  mucus

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Cystic Fibrosis Heredity
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Sickle-cell Anemia

• A genetic blood disorder characterized by red
  blood cells taking on an abnormal, rigid sickle
  shape
• Individuals containing the homozygous recessive
  form of the gene will develop the disease.
  However, individuals heterozygous for the gene
  are resistant to malaria

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Sickle-cell Anemia Heredity
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Down Syndrome

• Caused by the presences of all or part of the
  21st chromosome
• Associated with impairment of cognitive ability
  and physical growth and a particular set of
  facial features

Karyotype set of photographs of chromosomes
grouped in order in pairs
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Klinefelters Syndrome

• Also known as XXY syndrome, A condition in which
  males have an extra X sex chromosome.

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Turners Syndrome

• A chromosomal abnormality in which a part or
  whole of a sex chromosome is missing.
  Characterized as having only one X chromosome