Mendelian Genetics

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MENDELIAN

GENETICS &
PATTERNS OF
INHERITANCE
Mary Stephanie P. Chong, RMT, MD
Definition of Terms
Allele One of two or more versions of a gene

First Filial Generation (F1) | Offspring of the cross of P1 individuals


Hybrid
Monohybrid Hybrid for only one characteristic

Codominance Traits where both alleles of a gene pair contribute to the


phenotype

Autosomal The gene in question is located on one of the numbered, or non-


sex chromosome

(Sex) X-linked The gene in question is located on the sex chromosome

Penetrance refers to the appearance in the phenotype of genotypically


determined traits.
Definition of Terms
Dominant A trait that is phenotypically expressed in heterozygotes

Recessive produced by a form of a gene whose effect can be hidden by a


dominant gene and which can produce a noticeable effect only
when two copies of the gene are present
Wild-type The phenotype of the organism commonly found in nature.

Mutant Alternatives to the wild-type


Genotype The genetic contribution to the phenotype

Phenotype An individual's observable traits, such as height, eye color, and


blood type
Homozygotes Both alleles are the same (TT)
Heterozygotes The two alleles are different (Tt)
Gregor Mendel
“Father of Genetics”
tracked the segregation of parental
genes and their appearance in the
offspring as dominant or recessive
traits.
Mendel’s Rule of Heredity
1 2 3
Law of Law of Law of
Independent
Segregation Dominance
Assortment
The Punnett Square
a table in which all the possible outcomes
for a genetic cross between two
individuals with known genotypes are
given.

All possible genotypes for the haploid female


gametes are listed across the top, one genotype at
the head of each column; and down the left side
of the square, all the possible genotypes for the
haploid male gametes are listed, one per row
Law of
Segregation
A gamete receives only one
allele from the pair of alleles an
organism possesses;
fertilization (the union of two
gametes) reestablishes the
double number.
Progeny Testing
Testcross
Law of
Independent
Assortment
alleles for one gene can
segregate independently of
alleles for other genes.
Law of Dominance
recessive traits are always dominated or
masked by the dominant trait.
The trait which is expressed in the phenotype
is called the dominant trait while the one that
is not is called the recessive trait.
Incomplete
Dominance
phenotype of the heterozygote
falls between those of the two
homozygotes.

Offspring appear in a
ratio of 1 : 2 : 1
Codominance
occurs when the heterozygous phenotype is not
on a scale somewhere between the two
homozygotes, but actually expresses both
phenotypes simultaneously
people with blood type AB are heterozygotes
who express both the A and B alleles for
blood type
Epistasis
Interaction of nonallelic genes in the
formation of the phenotype.

This is a process analogous to


dominance among alleles of one gene.

Mechanism -
The dominant alleles from the two genes
control the two steps in the process.
Recessive alleles are ineffective.
Pedigree
Analysis
a genetic representation of a family
tree that diagrams the inheritance of a
trait or disease though several
generations

The pedigree shows the relationships


between family members and indicates
which individuals express or silently carry
the trait in question
Family Tree | Genogram
Rules of Dominance:
Dominant Inheritance
Occurs in every generations
Every affected individual has an
affected parent
No skip generation

Trait occurs about equally in


both sexes
Rules of Dominance:
Recessive Inheritance
Not found in all generations

Affected patients have unaffected parent

Consanguineous | Incestuous
Thank you for your kind attention!

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