CYTOGENETICS – CYTO311 - Prof. Sheila Mai S.

Patricia Darang
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CYTOGENETICS – CYTO311 o Patricia Darang
Modern Genetic Terminology

• The physical appearance of a trait

is the phenotype of the individual.
• Mendel’s unit factors represent
units of inheritance called genes by
modern geneticists.
• the phenotype is determined by
alternative forms of a single gene
called alleles.
• When alleles are written in pairs
to represent the two unit factors
(DD, Dd, or dd), these symbols are
called the genotype.
• When both alleles are the same
(DD or dd), the individual is
homozygous or a homozygote;
when the alleles are different (Dd),
we use the term heterozygous or a
The Testcross: One Character
heterozygote.
• To distinguish the genotype, Mendel
Terminologies
devised the testcross method.
• The organism expressing the dominant
• Genotype: the genetic
phenotype, but of unknown genotype, is
constitution of an individual (PP,
crossed to a known homozygous recessive
Pp, pp)
individual.
•Phenotype: the outward
appearance of an individual
Dominant phenotype:
(purple, white)
homozygous dominant alleles (PP)
•Dominant phenotype: the
heterozygous alleles (Pp)
phenotype seen when two
alternative alleles are present
Recessive phenotype:
together (Pp: purple)
homozygous recessive alleles (pp)
• Dominant allele: the form of the
heterozygous alleles (Pp)
gene that is expressed when two
alternative alleles are present together (P>p)
• Recessive allele: the form of the gene that is not expressed when
two alternative alleles are present together.
• Recessive phenotype: the phenotype that is only seen when two
identical alleles are found together (pp: white)
• Homozygous: having two identical alleles (PP = homozygous
dominant or pp = homozygous recessive)
• Heterozygous: having two different alleles (Pp)

PUNNETT SQUARES

• Punnett square, named after Reginald C. Punnett.

• the vertical column represents those of the female parent, and the
horizontal row represents those of the male parent.
• This process thus lists all possible random fertilization events.
• The genotypes and phenotypes of all potential offspring are
ascertained

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CYTOGENETICS – CYTO311 - Prof. Sheila Mai S. Patricia Darang
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CYTOGENETICS – CYTO311 - Prof. Sheila Mai S. Patricia Darang
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Ratio: homozygous →
heterozygous Vertical = Female
Mendelian Genetics (Part 2)
Independent Assortment
Mendel’s Dihybrid Cross Generated a Unique F2 Ratio

• Such a cross, involving two pairs of contrasting traits, is a dihybrid

cross, or two-factor cross.
• The F1 offspring will all be yellow and round. It is therefore
apparent that yellow is dominant to green and that round is
dominant to wrinkled.

All yellow, round (dominant traits) = the one that will be expressed

 On the basis of similar results in numerous

dihybrid crosses, Mendel proposed a fourth
postulate called independent assortment
 During gamete formation, segregating pairs of
unit factors assort independently of each other.
 This postulate stipulates that segregation of any
pair of unit factors occurs independently of all
others. As a result of random segregation, each
gamete receives one member of every pair of
unit factors. → every character = receive
one → e.g. 1 gamete seed color = not
affected to 1 seed shape

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CYTOGENETICS – CYTO311 - Prof. Sheila Mai S. Patricia Darang
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 Thus, according to the postulate of independent
assortment, all possible combinations of
gametes are formed in equal frequency
 The testcross can also be applied to individuals
that express two dominant traits but whose
genotypes are unknown.

The Trihybrid Cross Demonstrates That Mendel’s Principles

Apply to Inheritance of Multiple Traits

• three pairs of contrasting traits, in what is called a trihybrid cross,

or three-factor cross.
• When F1 individuals serve as parents, each produces eight
different gametes in equal frequencies.
• At this point, we could construct a Punnett square with 64 separate
boxes and read out the phenotypes.

Pedigrees Reveal Patterns of Inheritance of Human Traits

• The traditional way to study inheritance has been to construct a

family tree, indicating the presence or absence of the trait in
question for each member of each generation.
• Such a family tree is called a pedigree. By analyzing a pedigree, we
may be able to predict how the trait under study is inherited— for
example, is it due to a dominant or recessive allele?
 When many pedigrees for the same trait are studied, we can
often ascertain the mode of inheritance.
 Forked-Line Method or Branch Diagram

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CYTOGENETICS – CYTO311 - Prof. Sheila Mai S. Patricia Darang
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CYTOGENETICS – CYTO311 - Prof. Sheila Mai S. Patricia Darang
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CYTOGENETICS – CYTO311 - Prof. Sheila Mai S. Patricia Darang
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