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Foothill High School Science Department
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Foothill High School Science Department
The Human Genome
Karyotypes, Pedigrees &Genetic Disorders
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
Foothill High School Science Department
Foothill High School Science Department
Human Chromosomes
• Sex ChromosomesSex Chromosomes– FemalesFemales XXXX– MalesMales XYXY
• AutosomesAutosomes– Remaining 44 ChromosomesRemaining 44 Chromosomes
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.
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)
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
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
Foothill High School Science Department
Human Traits
Expression of Traits isExpression of Traits is::–Shaped By Environment, Shaped By Environment,
Nutrition, ExerciseNutrition, Exercise
Foothill High School Science Department
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
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
Foothill High School Science Department
Cystic Fibrosis
• Abnormal Protein, Does NOT Allow Normal Flow Of Chloride Ions Through Cellular Membrane
Foothill High School Science Department
Cystic FibrosisCystic Fibrosis
LungNormalLung
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
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
Foothill High School Science Department
Sickle Cell DiseaseNormal
Peripheral
Smear
Sickle Cell
Disease
Peripheral
Smear
Foothill High School Science Department
Sickle Cell Disease
MalariaMalaria
Sickle Cell