The Human Genome

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The Human Genome

• Karyotypes, Pedigrees Genetic Disorders

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Human Chromosomes

• Karyotype
• Pictures of Chromosomes Arranged In Homologous
  Pairs
• Homo sapiens
• 46 Chromosomes
• 23 from Mom
• 23 from Dad

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Human Chromosomes

• Sex Chromosomes
• Females XX
• Males XY
• Autosomes
• Remaining 44 Chromosomes

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Key Concept

• Key Concept
• All egg cells
• single X Chromosome.
• Sperm
• half carry X
• half carry Y chromosomes.

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Key Concept (cont.)

• This insures that just about half of the zygotes
• XX (female)
• About half
• XY (male)

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Pedigree Chart

• Shows Family Relationships and Occurrences Of
  Traits Linked To Single Genes

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Human Traits

• Single Gene Traits
• Linked To ONE Gene
• Polygenic Traits
• Linked To Multiple Genes
• Shape of Eyes Ears
• Skin Color

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Human Traits

• Expression of Traits is
• Shaped By Environment, Nutrition, Exercise

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From Gene To Molecule

• Key Concept
• In Both Cystic Fibrosis Sickle Cell Disease, A
  Small Change In The DNA Of A Single Gene Affects
  The Structure Of A Protein, Causing A Serious
  Genetic Disorder

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Cystic Fibrosis

• Fatal
• Mostly Among Those Of Northern European Ancestry
• Recessive Allele Chromosome 7
• Digestive Problems
• Heavy Mucus Lungs Bronchioles

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Cystic Fibrosis

• Abnormal Protein, Does NOT Allow Normal Flow Of
  Chloride Ions Through Cellular Membrane

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Cystic Fibrosis
Normal Lung
Cystic Fibrosis Lung
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Sickle Cell Disease

• Usually Among Africans African Americans
• Abnormal Hemoglobin Causes Misshapen Red Blood
  Cells
• Caused By Change In 1 DNA Base In The Gene
• Valine Replaces Glutamic Acid

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Sickle Cell Disease

• Red Cells Change Shape When Oxygen Levels Drop
  Exacerbated By Cold
• Protective Against Malaria Beneficial In West
  Central Africa

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Sickle Cell Disease
Sickle Cell Disease Peripheral Smear
Normal Peripheral Smear
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Sickle Cell Disease
Malaria
Sickle Cell