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GENETICS

Heredity

• Is the passing of traits from parents to


offspring.
• In the 1800s, heredity was viewed as the
"blending of traits from both parents",
but it doesn't explain how some traits
reappear after skipping a generation.
Gregor Mendel, "Father of Modern Genetics"

• Mendel was an Augustinian monk and


botanist who experimented on garden
peas and discovered the basic principles
of inheritance, called Laws of Mendelian
Inheritance, which are important because
of his experimental and quantitative
approach
MENDEL’S LAW OF SEGREGATION

Mendel’s Law of Independent Assortment

Mendel observed a consistent inheritance


pattern
SUMMARY

• Gregor Mendel laid down the foundations


for Modern Genetics. He discovered basic
inheritance patterns and studied them
quantitatively.
• Test crosses can express how alleles are
passed down from the parental, F₁, until
the F₂ generation.
• Mendel used models to illustrate his
discoveries.
• Alleles are different variations for a gene
of a specific trait
PEDIGREE ANALYSIS PEDIGREE ANALYSIS

• A very important tool for studying


human inherited diseases.
• These diagrams make it easier to
visualize relationships with families,
particularly large extended families.
• Pedigrees often used to determine the
mode of inheritance (dominant,
recessive) of genetic diseases.
Why do pedigrees?
• Punnett squares or chi-square tests
work well for organisms that have large
number of offspring and controlled
mating, but humans quite different.
- Small families, even large human
families have 20 or fewer children.
- Uncontrolled matings, often
heterozygotes
- Failure to truthfully identify
parentage
SUMMARY
• Mendelian Laws are observed only on
Probability Laws and Mendelian Inheritance
autosomal traits.
• Mendelian ratios are useful in computing
for probabilities.
• Multiplication rules of probability apply to
independent events; addition rules are
for mutually exclusive events.
• A pedigree is a special type of family tree
following the inheritance pattern of a
trait across many generations.
• Pedigree analysis is useful in family
planning
Chromosal Basis of Inheritance

Transmission of Traits over


Generations
X-LINKED DOMINANT Y LINKAGE OF GENES

SOME TRAITS ARE EXPRESSED ONLY BY


ONE BIOLOGIGAL SEX

X-LINKED RECESSIVE

SUMMARY
• Sex-linked traits are traits inherited from
the X and Y chromosomes. They do no
follow Mendelian ratios.
• Some sex-linked traits exhibit unique
inheritance patterns due to differences
in hormone production between males
and females, or other environmental
conditions.
• Sex-linked genes are inherited together.
The closeness of genes can be
expressed via a linkage map
NON-MENDELIAN MODES OF
INHERITANCE

SUMMARY
• The interaction of genes with one another
influence their mode of inheritance. These
patterns of inheritance may or may not
follow Mendelian ratios.
• Traits are influenced by allelic interactions
such as complete dominance, incomplete
or partial dominance, codominance, or
traits influenced by multiple alleles.
• Multiple alleles can only be studied in
populations

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