Alleles
• The various forms of a gene are alleles.
• Alleles may differ from each other by one or a
few or several bases.
• Homologous chromosomes carry the same
sequence of genes but not necessarily the
same alleles of those genes.
• New alleles are formed by copying errors, and
by mutation (= accidental damage to DNA,
whether endogenous or exogenous)
• From the existing genetic material, recombined
versions can be generated during meiosis
Why have sex?
• Mutation is the only source of variation.
• However, various stages of randomness in the course
of sexual reproduction increase the combinations of
mutations found in offspring:
• Crossing over
• 2 steps of random assortment of chromosomes
during meiosis
• Assortment of sexual partners.
• Fusion of different gametes from even the same
parents, also promotes genetic variation, for
example, between siblings
• Mutation: Exogenous sources: radiation,
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chemicals, or viruses an
inserting their DNA into ours!
Insertion of
exogenous
DNA is a
common
viral/bacterial
source of
mutation 4
Point mutation and correction
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Proofreading is done through the same size constraint
as replication of DNA
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Amino acid might not
change for
synonymous codons
Stop codons cause
nonsense frames
Can also have larger
frameshifts
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Chromosomal mutation:
Down’s syndrome
Human genome
Inheritance
• Mendel discovered the principles of inheritance
with experiments in which large numbers of pea
plants were crossed.
RECESSIVE VS. DOMINANT GENES
Recessive genes= two
recessive genes must
be paired to produce
characteristic
Dominant genes= need
no pairing. produce
characteristic every
time
Dominance
• Dominant alleles usually refer to an allele that codes
for a functioning protein, while recessive alleles code
for non-functional protein
• Based on this do you understand what makes a
functional protein dominant over a non-functional
one?
• If alleles produce partially functional proteins, they
may produce traits that are co-dominant, or
incompletely dominant, with mixed effects.
• Dominant alleles mask the effects of recessive
alleles but co-dominant alleles have joint effects.
Dominant allele -> Huntington’s disease
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Recessive allele -> Phenylketonuria
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