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CHAPTER 9

Patterns of Inheritance

Overview:
Mendel’s Laws
Variations of Mendel’s Laws
Chromosomes
Sex linked genes
Purebreds and Mutts — A Difference of Heredity

• Genetics is the science of heredity


• These black Labrador puppies are purebred—
their parents and grandparents were black Labs
with very similar genetic makeups
– Purebreds
often suffer
from serious
genetic defects
• The parents of these puppies were a mixture of
different breeds
– Their behavior
and appearance
is more varied as
a result of their
diverse genetic
inheritance
MENDEL’S LAWS
The science of genetics has ancient roots

• The science of heredity dates back to ancient


attempts at selective breeding
• Until the 20th century, however, many biologists
erroneously believed that
– characteristics acquired during lifetime could be
passed on
– characteristics of both parents blended irreversibly in
their offspring
Experimental genetics began in an abbey garden

• Modern genetics began with Gregor Mendel’s


quantitative experiments with pea plants

– Was the first person to


analyze patterns of
inheritance
– Deduced the fundamental
principles of genetics
• Mendel studied
garden peas
– These plant are
easily
manipulated
– These plants can
self-fertilize
• Mendel crossed pea
plants that differed
in certain
characteristics and
traced the traits
from generation to
generation
• This illustration
shows his
technique for
cross-fertilization
• He also created true-breeding varieties of plants
• Mendel then crossed two different true-breeding
varieties, creating hybrids
• Mendel studied
seven pea
characteristics
• He hypothesized
that there are
alternative forms
of genes
(although he did
not use that term),
the units that
determine
heredity
Mendel’s principle of segregation describes the inheritance
of a single characteristic
• From his experimental
data, Mendel deduced
that an organism has
two genes (alleles) for
each inherited
characteristic
– One characteristic
comes from each
parent
• A monohybrid cross is a
cross between parent
plants that differ in only
one characteristic
• Mendel’s principle of segregation
– Pairs of alleles segregate (separate) during gamete
formation; the fusion of gametes at fertilization
creates allele pairs again

Allele: Any one of the alternative forms of a given gene (e.g.


the ABO gene has three major alleles: A, B and O alleles).
Alternative forms of a gene (alleles).
• A sperm or egg
carries only one
allele of each pair
– The pairs of alleles
separate when
gametes form
– This process
describes Mendel’s
law of segregation
– Alleles can be
dominant or recessive
• An explanation of Mendel’s
results, including a Punnett
square
Homologous chromosomes bear the two alleles
for each characteristic
• Alternative forms of a gene (alleles) reside at the
same locus on homologous chromosomes
Genetic Alleles and Homologous
Chromosomes
• Homologous chromosomes
– Have genes at specific loci
– Have alleles of a gene at the same locus
• Homozygous
– When an organism has identical alleles for a gene
• Heterozygous
– When an organism has different alleles for a gene
The principle of independent assortment is
revealed by tracking two characteristics at
once
• By looking at two characteristics at once,
Mendel found that the alleles of a pair segregate
independently of other allele pairs during gamete
formation
– This is known as the principle of independent
assortment
Mendel’s Principle of Independent
Assortment
• Two hypotheses for gene assortment in a
dihybrid cross
– Dependent assortment
– Independent assortment
• Mendel’s principle of independent assortment
– Each pair of alleles segregates independently of the
other pairs during gamete formation
Using a Testcross to Determine an Unknown
Genotype
• A testcross is a
mating between
– An individual
of unknown
genotype and
– A homozygous
recessive
individual
Mendel’s principles reflect the rules of
probability

• Inheritance follows the


rules of probability
– The rule of
multiplication and the
rule of addition can be
used to determine the
probability of certain
events occurring
Connection: Genetic traits in humans can be tracked
through family pedigrees

• The inheritance of many


human traits follows
Mendel’s principles and the
rules of probability
Connection: Many inherited disorders in
humans are controlled by a single gene
• Most such
disorders are
caused by
autosomal
recessive alleles
– Examples:
cystic fibrosis,
sickle-cell
disease
• A few are caused by dominant alleles
– Examples: achondroplasia, Huntington’s disease
Connection: Fetal testing can spot many
inherited disorders early in pregnancy
• Karyotyping and biochemical tests of fetal cells
and molecules can help people make
reproductive decisions
– Fetal cells can be obtained through amniocentesis
VARIATIONS ON MENDEL’S PRINCIPLES
The relationship of genotype to phenotype is
rarely simple
• Mendel’s principles are valid for all sexually
reproducing species
– However, often the genotype does not dictate the
phenotype in the simple way his principles describe

• Phenotype
– An organism’s physical traits
• Genotype
– An organism’s genetic makeup
BEYOND MENDEL
• Some patterns of genetic inheritance are not
explained by Mendel’s principles
Incomplete Dominance in Plants and People
• In incomplete
dominance F1
hybrids have an
appearance in
between the
phenotypes of the
two parents
Many genes have more than two alleles in the
population
• In a population, multiple alleles often exist for a
characteristic
– The three alleles for ABO blood type in humans is an
example
A single gene may affect many phenotypic
characteristics
• A single gene may affect phenotype in many
ways
– This is called pleiotropy
– The allele for sickle-cell disease is an example
Connection: Genetic testing can detect disease-
causing alleles

• Genetic testing can be of value


to those at risk of developing a
genetic disorder or of passing
it on to offspring
A single characteristic may be influenced by
many genes
• This situation creates a continuum of
phenotypes
– Example: skin color
Polygenic Inheritance
• Polygenic
inheritance is the
additive effects of
two or more genes
on a single
phenotype
THE CHROMOSOMAL BASIS OF
INHERITANCE
Chromosome behavior accounts for Mendel’s
principles
• Genes are located on chromosomes
– Their behavior during meiosis accounts for
inheritance patterns
Genes on the same chromosome tend to be
inherited together
• Certain genes are linked
– They tend to be inherited together because they reside
close together on the same chromosome
• This inheritance
pattern was later
explained by linked
genes, which are
– Genes located on
the same
chromosome
– Genes that are
typically
inherited
together
Crossing over produces new combinations of
alleles
• This produces gametes with recombinant
chromosomes
• The fruit fly Drosophila melanogaster was used
in the first experiments to demonstrate the effects
of crossing over
Geneticists use crossover data to map genes

• Crossing over is more likely to occur between


genes that are farther apart
– Recombination frequencies can be used to map the
relative positions of genes on chromosomes
SEX CHROMOSOMES AND SEX-
LINKED GENES
Chromosomes determine sex in many species
• A human male has one X chromosome and one Y
chromosome
• A human female has two X chromosomes
• Whether a sperm cell has an X or Y chromosome
determines the sex of the offspring
Sex-linked genes exhibit a unique pattern of
inheritance
• All genes on the sex chromosomes are said to be
sex-linked
– In many organisms, the X chromosome carries many
genes unrelated to sex
– Fruit fly eye
color is a
sex-linked
characteristic
– Their inheritance pattern reflects the fact that males
have one X chromosome and females have two

– These figures illustrate inheritance patterns for white


eye color (r) in the fruit fly, an X-linked recessive
trait
Connection: Sex-linked disorders affect mostly
males
• Most sex-linked human
disorders are due to
recessive alleles
– Examples: hemophilia,
red-green color blindness
– These are mostly seen in males
– A male receives a single X-linked allele from his
mother, and will have the disorder, while a female has
to receive the allele from both parents to be affected