CYTOGENETICS (MIDTERM TOPICS)
TOPIC 1 – MENDELIAN GENETICS
Single Gene Traits
• Single-gene (monofactorial) trait –
“Mendelian”
• Single gene inheritance occurs when
a trait is linked to one gene-pair that
consists of two allele. That is also
referred to as Mendelian inheritance.
Definition of Terms
• Allele – alternative form of a gene
• Dominant trait – one trait that masks
another
• Recessive trait – masked trait
• Homozygous – two identical alleles
(eg. RR, rr)
• Heterozygous – two different alleles
(eg. Rr)
• Genotype – describes the organism’s
allele (eg. RR. Rr, rr)
• Phenotype – outward expression of
an allele combination (eg. Round,
wrinkle)
NOTE: An organism’s appearance does not
always reveal it’s alleles.
• Wild type – phenotype, most
common expression of a particular
allele combination in a population
• Mutant – phenotype, variant of a
gene’s expression that arises when
the gene undergoes a change
(mutation)
1
MENDEL’S EXPERIMENTS
“Elementen”
1857 – 1863: Mendel crossed and cataloged
traits in 24,034 plants, through several
generations
1866: Mendel published “Experiments on
Plant Hybridization”
1901:
• Hugo de Vries (Holland)
• Carl Correns (Germany)
• Erich von Tschermak (Austria)
Why did Gregor Mendel use pea plants in his
experiments?
Peas are:
- Easy to grow;
- Develop quickly; and
- Have many traits that take one of
two easily distinguishable forms.
In analyzing genetic crosses,
• Parental generation- first generation
• First filial generation (F1) – second
generation
• Second filial generation (F2) – next
generation
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TRUE-BREEDING
• Producing the same phenotype
• Have the same trait as parent
• Example: A true-breeding purple
plant crossed with itself will always
produce offspring that are purple as
well
MONOHYBRID CROSS
• Follows one trait and the self-crossed
plants are hybrids
• True-breeding plants with 2 forms of
a single trait are crossed
Monohybrid crosses: hybrids hide one
expression of a trait (short), which reappears
when hybrids are self-crossed
How did this happen?
Mendel’s explanation:
Gametes distribute “elementen”. Paired sets
of elementen separate as gametes form.
(When gametes join at fertilization, the
elementen combine anew.)
2
TEST CROSS – crossing an individual of
unknown genotype with a homozygous
recessive individual
Example: The pea plant is tall (tall is
dominant), is it heterozygous (Tt) or
homozygous (TT)?
Mendelian or monofactorial trait
Example: Sickle cell disease and
muscular dystrophy
MODE OF INHERITANCE
• Autosomal dominant inheritance –
affects both sexes and appears every
generation
What will happen if no offspring inherit the
mutation in one generation?
*Its transmission stops because the offspring
can pass on only the recessive form of the
gene
Example: Huntington’s disease – causes
uncontrollable movements and changes in
behavior and thinking
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• Autosomal recessive inheritance – • X-LINKED DOMINANT INHERITANCE

affects both sexes and can “skip”
generations through carriers who do not
have symptoms
• Affected individuals: homozygous
recessive genotypes
• Carriers: heterozygous: wild type masks
expression of the mutant allele

Example: Cystic fibrosis – causes severe

damage to the lungs, digestive system, and
other organs in the body

• Y-LINKED INHERITANCE

• X-LINKED RECESSIVE INHERITANCE