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Pedigrees and Karyotypes. Pedigree. A chart that shows the presence or absence of a trait according to the relationships within a family across generations. A square represents a male. A circle represents a female. A vertical line and a bracket connect the parents to their children. - PowerPoint PPT Presentation
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Pedigrees and Karyotypes
A chart that shows the presence or absence of a trait according to the relationships within a family across generations
Pedigree
A circle represents a female.
A square represents a male.
A horizontal line connecting a male and female represents a marriage.
A vertical line and a bracket connect the parents to their children.
A half-shaded circle or square indicates that a person is a carrier of the trait.A completely
shaded circle or square indicates that a person expresses the trait.
A circle or square that is not shaded indicates that a person neither expresses the trait nor is a carrier of the trait.
Autosomal DominantEx Achondroplasia Dwarfism, Huntington’s
Disease, Inherited colon & breast cancer, hypercholesterolemia
Autosomal RecessiveEx Sickle Cell Disease, Cysic Fibrosis,
Phenylketonuria (PKU), Recessive blindness, Tay Sachs
Modes of Inheritance
X-linked DominantEx Hypophosphatemic rickets, Rett Syndrome,
Incontinentia pigmenti (lethal in males), congenital generalized hypertrichosis (wolf man syndrome)
X-linked RecessiveEx Dushene Muscular Dystrophy, hemophilia,
color blindness
Modes of Inheritance
Autosomal DominantTransmitted directly
from one generation to the next.
Males and Females affected equally
NEVER SKIPS A GENERATION
Never any carriers
Autosomal RecessiveOnly expressed when in
homozygous form
Males and females affected equally
May skip many generations before showing up
¼ chance being affected when carriers mate
X-linked DominantFemales affected
more frequently
Daughters of affected males : 100% chance & sons: unaffected
Offspring of affected females : 50% chance
X-linked RecessiveMales affected more
frequently because they only have one X chromosome
Typical transmission from carrier female
X-linked Recessive ContinuedSometimes carriers
are not depicted on the pedigree
What mode of Inheritance?
What Mode of Inheritance?
Cystic Fibrosis
What Mode of Inheritance
Huntington’s Disease
What Mode of Inheritance?
Hypertrichosis
What Mode of Inheritance?
Sickle Cell Anemia
What Mode of Inheritance?
Duchenne Muscular Dystrophy
What Mode of Inheritance?
Tay-Sachs
Karyotypes
Definition
A karyotype is the characteristic
chromosome match (or complement) of a eukaryote species
Human Female
Human Gametes
Down Syndrome
Klinefelter Syndrome
Turner Syndrome
What is Wrong Here?
Dog Karyotype
Mouse Karyotype
Chromosome Number By Species
Common Name Genus and Species Diploid Chromosome
Number
Buffalo Bison bison 60
Cat Felis catus 38
Cattle Bos taurus 60
Dog Canis familiaris 78
Donkey E. asinus 62
Goat Capra hircus 60
Horse Equus caballus 64
Human Homo sapiens 46
Pig Sus scrofa 38
Sheep Ovis aries 54
