Sponge Questions

Is it possible for a type O child to be born from a

Extensions and Exceptions mating between a type-A parent and a type-B
parent? Between a type AB parent and a type O
to Mendels Laws parent?
What are the chances that a woman who s Rh- will
have an Rh+ child if her mate is heterozygous?
Genetics Notes
In the famous Charlie Chaplin paternity case in the
1940s, Chaplin was accused of fathering an
illegitimate child. The babys blood was B, the
mothers A and Chaplins O. If you had been the
judge, how would you have decided the case?

Exceptions to Mendels Law Lethal alleles

Mendel chose traits in peas that showed two distinct Some allele combinations are lethal.
forms. Mexican hairless dogs result from a mutation in a
Not all genes exhibit such simple inheritance. gene that shows lethality
hh hairy the wildtype trait
Alleles interact Hh hairless one mutation present creates a
visible phenotype
Gene interaction HH dies two mutation are lethal
Non-nuclear genes
Segregation of genes on same chromosome

Lethal alleles Multiple Alleles

A gene may exist in more than two allelic
forms in a population.

Genes can mutate in many ways at any

nucleotide in their DNA sequence.

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 Multiple alleles: coat color in rabbits Incomplete dominance

The heterozygous
phenotype is
typically
Grey
CC or Ccch or Cch or Cc
Chinchilla intermediate to the
cchcch
homozygous
phenotype

Himalayan Light grey Albino

chc or c hc h cchch or c chc cc

Codominant alleles are observed

simultaneously Codominant Alleles
The ABO gene encodes a cell surface
protein.
Allele A makes A protein
Allele B makes B protein
Allele O makes no protein

Alleles A and B can be present on the cell

surface at the same time.
Alleles A and B are codominant.
Allele O is recessive to both A and B
alleles

Blood Types Example Epistasis

when one gene affects
the expression of a
Epistasis - Condition results
second gene.
when one gene masks
another
- H gene is epistatic to the
ABO gene.
- H protein attaches the A or
B protein to the cell surface.

- hh genotype = no H protein
- All ABO genotypes appear as type
O

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 Variable expressivity Pleiotropy
- Expressivity of a phenotype is the severity,
One gene controls or
degree and/or extent of the expression of a trait influences the
FF or Ff all show mild, moderate or expression of many
profound deafness symptoms
in a disorder. These
Incomplete penetrance symptoms may be
variably expressed
- Penetrance refers to the all or none expression of a Occurs when a single
geneotype protein affects different
- Occurs when the disease phenotype is not always parts of the body or
observed among individuals carrying the disease- participates in the
associated genotype. different biochemical
DD or Dd 80% polydactyly processes King George III - Photo
Recessive Inheritance
DD or Dd 20% no polydactyly North Wind Picture Archives
of porphyria variegata

Phenocopy Genetic Heterogeneity

A trait caused by the environment that mimics an
inherited condition Individuals with identical phenotypes may
Exposure to teratogens reflect different genetic causes.
Thalidomide causes limb defects akin to rare Deafness
inherited phocomelia
A birth defect in which the upper portion of a limb is Albinism
absent or poorly developed, so that the hand or foot Cleft palate
attaches to the body by a short, flipperlike stump
Poor blood clotting
Infection
Rubella in pregnant mothers causes deafness
mimicking inherited forms of deafness

Organelle providing
Mitochondrion cellular energy Mitochondrial Inheritance
Contains small circular
DNA
No crossing over or Mitochondria and their genome are transmitted
DNA repair from a mother to all of her offspring.
Many copies of the
mitochondrial genome
per cell
37 genes, no histones,
no introns
Maternal inheritance

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 Heteroplasmy Linkage
Is the term indicating
There are many
that two genes are not
copies of the
transmitted
mitochondrial DNA
independently.
Heteroplasmy is the
condition in which Why?
mitochondrial DNA Two genes physically
sequence is not the near each other on a
same in all copies chromosome will not
assort randomly in
meiosis.

Linkage

Unlinked :
Tightly linked:
4 type of gametes 2 types of gametes
PL, Pl, pL, pl PL and pl

NOTE for LINKAGE which two types are observed (PL and pl OR Pl
and pL) depends on which alleles are on the same chromosome in
the parent!

Recombination Recombination
When chromosomes The frequency of recombination between two genes is
recombine new directly related to the physical distance between the genes
combinations of alleles
are created
Parental chromosomes
have the alleles present
in the original
configuration
Recombinant
chromosomes have
new combinations of
alleles

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 Inheritance of linked genes Linkage Disequilibrium
The genes for Rh factor (R) and anemia (E) are linked, but some
recombination occurs between the two genes The non-random association between alleles at two
A linkage map is a diagram indicating the relative distance between
genes. locations on a chromosome is called linkage
1% recombination = 1 map unit = 1 centiMorgan (cM) disequilibrium
Map distances are additive.

Two genes, A and B, exist in a population.

If the frequency of chromosomes with
AB=Ab=aB=ab then the genes are in equilibrium
If the frequency of one allele of gene A is seen
more frequently with a particular allele of gene B,
then the genes are in linkage disequilibrium

Haplotype Karyotype
A haplotype is the set of alleles inherited on one chromosome