foothill high school science department the human genome karyotypes, pedigrees & genetic...
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Foothill High School Science Department
The Human Genome
Karyotypes, Pedigrees &Genetic Disorders
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Foothill High School Science Department
Human Chromosomes
• KaryotypeKaryotype– Pictures of Chromosomes Arranged In Pictures of Chromosomes Arranged In
Homologous PairsHomologous Pairs• Homo sapiensHomo sapiens
– 46 Chromosomes46 Chromosomes• 23 from Mom23 from Mom• 23 from Dad23 from Dad
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Foothill High School Science Department
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Foothill High School Science Department
Human Chromosomes
• Sex ChromosomesSex Chromosomes– FemalesFemales XXXX– MalesMales XYXY
• AutosomesAutosomes– Remaining 44 ChromosomesRemaining 44 Chromosomes
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Foothill High School Science Department
Key ConceptKey ConceptKey Concept::All egg cells All egg cells
single X single X Chromosome.Chromosome.
SpermSpermhalf carry Xhalf carry Xhalf carry Y half carry Y
chromosomes.chromosomes.
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Foothill High School Science Department
Key Concept (cont.)
This insures that This insures that just just about half about half of the zygotes:of the zygotes:
XX XX (female)(female)
About half About half XY XY (male)(male)
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Foothill High School Science Department
Pedigree ChartPedigree ChartShows Family Relationships and Occurrences Of Shows Family Relationships and Occurrences Of
Traits Linked To Single GenesTraits Linked To Single Genes
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Foothill High School Science Department
Human Traits
• Single Gene TraitsSingle Gene Traits– Linked To ONE GeneLinked To ONE Gene
• Polygenic TraitsPolygenic Traits– Linked To Multiple GenesLinked To Multiple Genes– Shape of Eyes & EarsShape of Eyes & Ears– Skin ColorSkin Color
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Foothill High School Science Department
Human Traits
Expression of Traits isExpression of Traits is::–Shaped By Environment, Shaped By Environment,
Nutrition, ExerciseNutrition, Exercise
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Foothill High School Science Department
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Foothill High School Science Department
From Gene To Molecule
Key ConceptKey Concept::In Both In Both Cystic FibrosisCystic Fibrosis & & Sickle Sickle
Cell DiseaseCell Disease, A Small Change In , A Small Change In The DNA Of A Single Gene The DNA Of A Single Gene Affects The Structure Of A Affects The Structure Of A Protein, Causing A Serious Protein, Causing A Serious Genetic DisorderGenetic Disorder
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Foothill High School Science Department
Cystic Fibrosis
• FatalFatal• Mostly Among Those Of Northern Mostly Among Those Of Northern
European AncestryEuropean Ancestry• Recessive Allele – Chromosome 7Recessive Allele – Chromosome 7• Digestive ProblemsDigestive Problems• Heavy Mucus Lungs & BronchiolesHeavy Mucus Lungs & Bronchioles
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Foothill High School Science Department
Cystic Fibrosis
• Abnormal Protein, Does NOT Allow Normal Flow Of Chloride Ions Through Cellular Membrane
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Foothill High School Science Department
Cystic FibrosisCystic Fibrosis
LungNormalLung
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Foothill High School Science Department
Sickle Cell Disease
• Usually Among Africans & African Usually Among Africans & African AmericansAmericans
• Abnormal Hemoglobin Causes Abnormal Hemoglobin Causes Misshapen Red Blood CellsMisshapen Red Blood Cells
• Caused By Change In Caused By Change In 1 DNA Base 1 DNA Base In In The Gene:The Gene:– Valine Replaces Glutamic AcidValine Replaces Glutamic Acid
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Foothill High School Science Department
Sickle Cell Disease
• Red Cells Change Shape When Oxygen Red Cells Change Shape When Oxygen Levels Drop – Exacerbated By ColdLevels Drop – Exacerbated By Cold
• Protective Against Malaria Protective Against Malaria – Beneficial – Beneficial In West Central AfricaIn West Central Africa
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Foothill High School Science Department
Sickle Cell DiseaseNormal
Peripheral
Smear
Sickle Cell
Disease
Peripheral
Smear
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Foothill High School Science Department
Sickle Cell Disease
MalariaMalaria
Sickle Cell