Lecture 12.

Mendelian Genetics (2)

(Chapter 14)

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Inheritance patterns are often more
complex than predicted by simple
Mendelian genetics
 Extending Mendelian Genetics for a Single Gene

• Inheritance of characters by a single gene may

deviate from simple Mendelian patterns in the
following situations:
– When alleles are not completely dominant or
recessive
– When a gene has more than two alleles
– When a gene produces multiple phenotypes
 Degrees of Dominance

• Complete dominance occurs when phenotypes of

the heterozygote and dominant homozygote are
identical
• In incomplete dominance, the phenotype of F1
hybrids is somewhere between the phenotypes of
the two parental varieties
• In codominance, two dominant alleles affect the
phenotype in separate, distinguishable ways
Incomplete dominance
The Relationship Between Dominance and
Phenotype
• In the case of pea shape, the dominant allele codes
for an enzyme that converts an unbranched form of
starch in the seed to a branched form
• The recessive allele codes for a defective form of
the enzyme, which leads to an accumulation of
unbranched starch
• This causes water to enter the seed, which then
wrinkles as it dries
 Multiple Alleles
• Most genes exist in populations in more than two allelic
forms
• For example, the four phenotypes of the ABO blood group in
humans are determined by three alleles for the enzyme that
attaches A or B carbohydrates to red blood cells: IA, IB, and i
• The enzyme encoded by the IA allele adds the A
carbohydrate, whereas the enzyme encoded by the IB allele
adds the B carbohydrate; the enzyme encoded by the i
allele adds neither
 Pleiotropy

• Most genes have multiple phenotypic effects, a

property called pleiotropy
• For example, pleiotropic alleles are responsible for
the multiple symptoms of certain hereditary
diseases, such as cystic fibrosis and sickle-cell
disease
 Extending Mendelian Genetics for Two or More
Genes

• Some traits may be determined by two or more

genes
• In epistasis, one gene affects the phenotype of
another due to interaction of their gene products
• In polygenic inheritance, multiple genes
independently affect a single trait
 Epistasis

• In epistasis, expression of a gene at one locus

alters the phenotypic expression of a gene at a
second locus
• For example, in Labrador retrievers and many other
mammals, coat color depends on two genes
• One gene determines the pigment color (with
alleles B for black and b for brown)
• The other gene (with alleles E for color and e for no
color) determines whether the pigment will be
deposited in the hair
• If heterozygous black
labs (genotype BbEe)
are mated, we might
expect the dihybrid F2
ratio of 9:3:3:1
• However, a Punnett
square shows that the
phenotypic ratio will be
9 black to 3 chocolate
to 4 yellow labs
• Epistatic interactions
produce a variety of
ratios, all of which are
modified versions of
9:3:3:1
 Polygenic Inheritance

• Quantitative characters are those that vary in the

population in gradation along a continuum
• Quantitative variation usually indicates polygenic
inheritance, an additive effect of two or more
genes on a single phenotype
• Height is a good example of polygenic inheritance;
over 180 genes affect height
• Skin pigmentation in humans is also controlled by
many separately inherited genes
A simplified model for polygenic inheritance
Nature and Nurture: The Environmental Impact on
Phenotype

• Another departure from simple Mendelian genetics

arises when the phenotype for a character depends
on environment as well as genotype
• Diverse phenotypes of a single plant, human…..
• The phenotypic range is broadest for polygenic
characters
• Traits that depend on multiple genes combined with
environmental influences are called multifactorial
The effect of environment on phenotype
A Mendelian View of Heredity and Variation
• An organism’s phenotype includes all aspects of its
physical appearance, internal anatomy, physiology,
and behavior
• An organism’s phenotype reflects its overall
genotype and unique environmental history
Many Human Traits follow Mendelian
Patterns of Inheritance
 Pedigree Analysis

• Humans are not good subjects for genetic research

– Generation time is too long
– Parents produce relatively few offspring
– Breeding experiments are unacceptable
• However, basic Mendelian genetics endures as the
foundation of human genetics

• In human genetics, geneticists analyze the results

of human matings that have already occurred
• A pedigree is a family tree that describes the
inheritance of a trait across generations
Pedigree Analysis
 Recessively Inherited Disorders

• Many genetic disorders are inherited in a recessive manner

• These range from relatively mild to life-threatening
• Recessively inherited disorders show up only in individuals
homozygous for the allele
• Carriers are heterozygous individuals who carry the
recessive allele but are phenotypically normal
• Most individuals with recessive disorders are born to carrier
parents
• Albinism is a recessive condition characterized by a lack of
pigmentation in skin and hair
• Cystic Fibrosis, Sickle-Cell Disease
• If a recessive allele that causes a disease is rare, it
is unlikely that two carriers will meet and mate
• Consanguineous matings (that is, between close
relatives) increase the chance that both parents of
a child carry the same rare allele
• Most societies and cultures have laws or taboos
against marriages between close relatives
Cystic Fibrosis
• Cystic fibrosis is the most common lethal genetic
disease in the United States, striking one out of
every 2,500 people of European descent
• The cystic fibrosis allele results in defective or
absent chloride transport channels in plasma
membranes, leading to a buildup of chloride ions
inside the cell
• Symptoms include mucus buildup in some internal
organs and abnormal absorption of nutrients in the
small intestine
Sickle-Cell Disease: A Genetic Disorder with
Evolutionary Implications
• Sickle-cell disease affects one out of 400 African-
Americans
• It is caused by the substitution of a single amino
acid in the hemoglobin protein in red blood cells
• In homozygous individuals, all hemoglobin is
abnormal (sickle-cell)
• Symptoms include physical weakness, pain, organ
damage, and even paralysis
 Dominantly Inherited Disorders

• Some human disorders are caused by dominant

alleles
• Dominant alleles that cause a lethal disease are
rare and arise by mutation
• Achondroplasia (연골무형성증) is a form of
dwarfism caused by a rare dominant allele
• Huntington’s disease is a degenerative disease of
the nervous system
• The timing of onset of a disease significantly affects
its inheritance
• Huntington’s disease is a degenerative disease of
the nervous system
• The disease has no obvious phenotypic effects until
the individual is about 35 to 40 years of age
• Once the deterioration of the nervous system
begins, the condition is irreversible and fatal
 Multifactorial Disorders

• Many diseases, such as heart disease, cancer,

alcoholism, and mental illnesses, have both genetic
and environmental components
• No matter what our genotype, our lifestyle has a
tremendous effect on phenotype
 Genetic Testing and Counseling

• Genetic counselors can provide information to

prospective parents concerned about a family history
for a specific disease
• Fetal and newborn testing can also reveal genetic
disorders
– Counseling Based on Mendelian Genetics and
Probability Rules
– Tests for Identifying Carriers
– Fetal Testing: amniocentesis (양수검사), chorionic
villus sampling (CVS) (융모막채취법)
– Newborn Screening