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• H substance is
possessed by all and is
the precursor for both
the A and B antigens
– A antigen has an added
N-acetylgalactosamine
– B antigen has an added
galactose
The Bombay Phenotype
• Family pedigree
showing inheritance of
Bombay allele
Multiple Alleles
• Although ABO blood types in humans is
considered a classic example of multiple
alleles, most all loci exhibit this
phenomenon
– Eye color locus for Drosophila (Morgan’s
famous white-eyed mutant) has over 100
known alleles
Lethal Alleles
• Many gene products are essential to survival
of an organism
– Lethal alleles represent “essential genes”, lethal in
homozygous state
• Time of death is dependent upon when the gene
product is essential to development
– Loss of function alleles can be recessive lethal (often
are)
• Heterozygotes may tolerate a non-functional mutant
allele if wt allele produces sufficient product for
organism survival
• Sometimes recessive lethal are still dominant with
respect to phenotype
Lethal Alleles
• Example: agouti (coat color) in mice
agouti x agouti all agouti
yellow x yellow 2/3 yellow, 1/3 agouti
agouti x yellow ½ yellow, ½ agouti
– Explanation: mutant yellow dominant over wt agouti
and homozygous agouti lethal. Mutant allele always
on (gain of function), deletion actually affects
neighboring essential gene
Agouti
Allele
Lethal Dominant Mutations
• Both homozygous and heterozygous states are
lethal
• Generally very rare
• Example: Huntington disease (humans)
– Nervous and motor system degeneration
– Commonly begins to be exhibited after age forty (but
can be much earlier)
• Children already born
• Afflicted persons are heterozygous (Hh)
Crosses of Two Gene Pairs with
Different Modes of Inheritance
Likely Genotypes
Sex-based Influences On Phenotype
• Sex-limited inheritance
– Specific phenotype limited to one sex
• Sex-influenced inheritance
– Sex influences expression of phenotype but not
limited to one sex or another
– Known examples are autosomally-encoded by
expression is dependent upon hormone
constitution of individual (sex)
Fowl Feathering
• Cock feathering is longer, more curved and pointed
• Hen feathering is shorter and more rounded
• Inheritance of this phenotype is controlled by a pair of alleles (H
and h) at a single autosomal locus
– But actual expression can be modified by the individual’s sex hormones
HH male – hen feathered HH female – hen feathered
Hh male – hen feathered Hh female – hen feathered
hh male – cock feathered hh female – hen feathered
• H is dominant over h, h only expressed in males, some populations
fixed for one or the other allele,
Other Sex-limited and Sex-
influenced Inheritance
• Autosomal genes responsible for milk yield
in dairy cattle are sex limited
– Independent of genotype, bulls give no milk
• Pattern baldness in humans and horn
formation in Dorsett Horn sheep is sex-
influenced
– E.g. in BB women hair loss is reduced and
occurs later than in BB men, Bb women
generally not affected
Phenotype Is Not Always a Direct
Reflection of Genotype
• “Eyeless” mutation in
Drosophila
– Reduces eye size from a partial
reduction to complete elimination
(average 0.25 to 0.50)
Genetic Background Effects