Copyright The McGraw-Hill Companies, Inc. Permission required for reproduction or display.

Outline
When Gene Expression Appears to Alter Mendelian
Ratios

Copyright The McGraw-Hill Companies, Inc. Permission required for reproduction or display.

Exceptions to Mendels Law

Mendel chose traits in peas that showed
two distinct forms.
Not all genes exhibit such simple inheritance.

5 -2

Alleles interact
Genes interact
Non-nuclear genes
Segregation of genes on same
chromosome

Copyright The McGraw-Hill Companies, Inc. Permission required for reproduction or display.

Lethal alleles
Some allele combinations are lethal.
= a lethal genotype causes death before the
individual can reproduce
Achondroplastic dwarfism
Mexican hairless dogs

5 -3

Lethal alleles
Mexican hairless dogs result from a mutation in a
gene that shows lethality
hh

hairy

the wildtype trait

Hh

hairless

one mutation present

creates a visible phenotype

HH

dies

two mutation are lethal

5 -4

Copyright The McGraw-Hill Companies, Inc. Permission required for reproduction or display.

Lethal alleles

5 -5

Copyright The McGraw-Hill Companies, Inc. Permission required for reproduction or display.

Multiple Alleles
Many variants or degree of a phenotype
occur
An individual has two alleles, but a
population can have many alleles within the
individual members.
Genes can mutate in many ways at any
nucleotide in their DNA sequence.
PKU, CF
5 -6

Copyright The McGraw-Hill Companies, Inc. Permission required for reproduction or display.

Multiple alleles: coat color in rabbits

Grey
CC or Ccch or Cch or Cc

5 -7

Himalayan
chc or h h
c c

Chinchilla

Light gray
or cchc
cchch

cchcch

Albino
cc

Copyright The McGraw-Hill Companies, Inc. Permission required for reproduction or display.

Predicting phenotypes based on genotype

information can be difficult.
Cystic fibrosis phenotypes:
Same genotype ->
same degree of pancreatic
insufficiency
Same genotype ->
different lung phenotype
mild to severe

5 -8

Copyright The McGraw-Hill Companies, Inc. Permission required for reproduction or display.

Incomplete dominance
= the heterozygous phenotype is between of the
homozygotes (intermediate)
Familial hypercholesterolemia

5 -9

Copyright The McGraw-Hill Companies, Inc. Permission required for reproduction or display.

Incomplete dominance
indicates the heterozygous phenotype is distinct
from either homozygous phenotype.

The heterozygous
phenotype is typically
intermediate to the
homozygous phenotype.

5 -10

Copyright The McGraw-Hill Companies, Inc. Permission required for reproduction or display.

Codominant alleles are observed simultaneously

The heterozygous phenotype results from the exp. of
both alleles
A heterozygotes phenotype is distinct from & not
intermediate between those of the two
homozygotes.

5 -11

Copyright The McGraw-Hill Companies, Inc. Permission required for reproduction or display.

Codominant alleles are observed simultaneously

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.
5 -12

Copyright The McGraw-Hill Companies, Inc. Permission required for reproduction or display.

Codominant Alleles

5 -13

Copyright The McGraw-Hill Companies, Inc. Permission required for reproduction or display.

Epistasis
when one gene affects
the expression of a
second gene.
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.
5 -14
Bombay phenotype

Copyright The McGraw-Hill Companies, Inc. Permission required for reproduction or display.

Variable expressivity
A phenotype that varies in intensity shows
variable expressivity.
FF or Ff

all show mild, moderate or

profound deafness

Incomplete penetrance
Occurs when the disease phenotype is not always
observed among individuals carrying the
disease-associated genotype.

5 -15

DD or Dd

80% polydactyly

DD or Dd

20% no polydactyly

Copyright The McGraw-Hill Companies, Inc. Permission required for reproduction or display.

Pleiotropy
Trait with many
symptoms or gene
controls many
functions.
Porphyria
variegata

Photo North Wind Picture Archives

5 -16

Copyright The McGraw-Hill Companies, Inc. Permission required for reproduction or display.

Phenocopy
An trait caused by the environment that
appears inherited.
Exposure to teratogens
Thalidomide causes limb defects akin to rare
inherited phocomelia.
Infection
Rubella in pregnant mothers causes deafness
mimicking inherited forms of deafness.
5 -17

Copyright The McGraw-Hill Companies, Inc. Permission required for reproduction or display.

Genetic heterogeneity
Different genes can produce identical
phenotypes.
Individuals with identical phenotypes
may reflect different genetic causes.
Deafness

Albinism

Cleft palate

Poor blood clotting

5 -18