V Branch of science that studies how the

characteristics of living organisms are inherited

P ghy do you have a particular blood type or hair
color?
P ghy do some people have the same skin color
as their parents while others don·t?
P ghy is it that generation after generation of
plants, animals, and microbes look so much like
members of their own kind?
V 
 helps you address these and
related questions more effectively.
V ÷ GENE is a portion of D
÷ that
determines a characteristic.
V hrough meiosis and reproduction, genes
can be transmitted from one generation
to the next.
V he study of genes, how genes produce
characteristics, and how characteristics
are inherited is a field of biology called
GENETICS.
V Skin color, facial features, hair are commonly used as basis
for classifying individuals by race.

V Today scientists are able to compare DNA of different

races.
V Assuming that individuals of a race would be more similar to
each other than they would be to individuals of a different
race, scientists did a reality check.
V About 90% of all genetic variety within the human species do
not involve characteristics that we typically view as
differences between races.
V D
÷, enes, hromosomes
V Meiosis
P Movement of chromosomes
P egregation and independent assortment
V he first person to systematically study
inheritence was an ÷ugustinian monk
named Gregor Mendel.
V Because of his early work, the study of the
pattern of inheritance that follows the laws
formulated by regor Mendel is often
called MENDELIAN GENETICS.
V ¦or those interested: `A Monk and Two Peas·
by Robin Marantz Henig
x. Gene: Mendel thought of the gene as a
•
 that could be passed from parents
to offspring m

  


•
  u
oday we know that genes are actually
composed of specific nucleotide
sequences
Œ. Locus m lural = lociu
he specific site on the
chromosome where a particular gene is
located.
3. Ploidy
Diploid mnu  aploid mnu
mnu cell Meiosis mnu gametes

n+n gametes Fertilization n

Diploid Organisms result from the fertilization of

Haploid Sperm and Haploid Egg inheriting one
gene of each type from each parent.
V Homologous Chromosomes
P ÷ pair of chromosomes that have genes
coding for the same characteristics at
corresponding locations mlociu.
V Alleles
P he genes at corresponding loci of a
homologous pair of chromosomes are
called alleles.
V ÷ trait
P may be any single feature or quantifiable
measurement of an organism.
P ÷ characteristic, especially one that distinguishes
an individual from others.
D6

D


D6

D 
D


D 


D  

D 




 


D6


Trait: earlobe shape
Variants: attached, free, pixie

÷ttached earlobe Free earlobe

ixie ear deformity

V enotype
P he combination of alleles located on
homologous chromosomes that determines a
specific characteristic or trait.
P t is the genetic constitution of an organism or a
group of organisms.
V henotype
P he observable physical or biochemical
characteristics of an organism, as determined by
both genetic makeup and environmental
influences.
P he outward appearance of an organism; the
expression of a genotype in the form of traits that
can be seen and measured, such as hair or eye
color.
V ÷s mentioned in a previous slide, diploid organisms
may have  different forms of a gene.
V n fact, there may be several alternative forms of
each gene within a population.
V ALLELES are different forms of a gene present at the
same locus.
V xample, n people there are  alleles for the gene
for earlobe shape ² free and attached.
V ÷lleles are located on a pair of homologous
chromosomes ² one allele on each chromosome.
E E homozygous
E e heterozygous
E e homozygous
Alleles
V he term DOMINANT allele refers to the allele that
causes a phenotype that is seen in a heterozygous
genotype. [ x for the trait of earlobe shape, e will
imply free earlobe
V f a genetic trait is dominant, one copy of the gene
is sufficient for the expression irrespective of the
other allele.
V Dominant traits have a 50% chance to pass from
parent to child.
V Dominant alleles are usually represented with a
÷ ÷   . [ x for free earlobes]
V ÷ RECESSIVE allele is one that is phenotypically
expressed in the homozygous state but has its
expression masked in the presence of a dominant
gene.
V ecessive genes are usually represented by a
lowercase letter as opposed to the uppercase
letters of dominant genes. [ x e for attached
earlobes]
V f a genetic trait is recessive, a person needs to
inherit  copies of the gene for the trait to be
expressed [ee].
V ÷ CARRIER is a person who is heterozygous for a
trait [ e].
V f both parents are carriers, there is a 5% chance
with each child to show the recessive trait.
  



 

 
V he term `recessive· has nothing to do with the
significance or value of the allele
V t simply describes how an allele can be expressed.
V ecessive alleles are not less likely to be inherited
but must be present in the homozygous condition
to express themselves.
V ecessive alleles are not necessarily less frequent in
a population.
V Mendel started the idea of particulate inheritance
V g eas ????
P even different traits each of which is in 
different forms. [flowers are either purple or
white and seeds yellow or green and seed
shape round or wrinkled]
P Male, female reproductive parts are contained
in the same flower. ontrol of crosses possible.
P lant small, grows easily, quickly producing
many offspring.
x. Mendel would cross-pollinate mhybridizeu two
contrasting, true-breeding mhomozygous for
selected traitu pea varieties m ureline opulationu.
. e got true breeders by allowing self pollination for
several generations.
3. he true-breeding parents are the P generation.
4. and their hybrid offspring are the ¦x generation.
5. Mendel then allowed the Fx hybrids to self-pollinate
to produce an F generation.
 å. Mendel cross-pollinated two strains (e.g. TT x tt )

Trait - plant height

Alleles - T tall, t short
Px cross TT x tt genotype -- Tt
t t phenotype -- Tall
T t Tt genotypic ratio --all alike
T t Tt phenotypic ratio- all alike

V he offspring of this cross were all hybrids showing only

the dominant trait & were called the First Filial or ¦x
generation
V Mendel reasoned that the heritable factor for white
flowers was present in the Fx plants, but it did not affect
flower color.
‰. Mendel then crossed two of his ¦x plants and tracked
their traits; known as an Fx cross
V ghen  hybrids were crossed, 75% m34u of the offspring
showed the dominant trait & 5% mx4u showed the
recessive trait; always a 3
x ratio
V he offspring of this cross were called the ¦Œ generation

Trait - plant height

Alleles - T tall, t short
¦x cross Tt x Tt genotype -- TT, Tt, tt
 t phenotype -- Tall & short
T  Tt genotypic ratio --x:Œ:x
t t tt phenotypic ratio- 3:x
V Law of dominance *an allele that is expressed
over the other allele is said to be dominant.
V Law of segregation *when gametes are formed by
a diploid organism, the alleles that control a trait
separate from one another into different gametes,
retaining their individuality.
V Law of independent assortment *members of one
gene pair separate independent of other gene
pairs.
Vhe hereditary determinants are of a particulate
nature. hese determinants are now called genes.
Vhe Fx from a cross of two pure lines contains one allele
for the dominant phenotype and one for the recessive
phenotype. hese two alleles comprise the gene
pair. Law of Dominance was based on this observation.
VOne member of the gene pair segregates into a
gamete, thus each gamete only carries one member
of the gene pair. Law of segregation was based on
this.
Vametes unite at random and irrespective of the other
gene pairs involved. Law of independent assortment
was based on this.
Law of Dominance states that when different alleles for
a characteristic are inherited mheterozygousu, the trait
of only one mthe dominant oneu will be expressed. he
recessive trait's phenotype only appears in true-
breeding mhomozygousu individuals

d


Genotypes: Phenotype:
Green Pod
GG

Green Pod
Gg

Yellow Pod
gg
V Law of Segregation states that each genetic trait is
produced by a pair of alleles which separate
msegregateu during reproduction
V x. =round seed; r=wrinkled seed

Rr

R r
V Law of Independent Assortment states that the alleles
of different genes separate independently of each
other during gamete formation
P o one trait does not influence or control another.
P xample

ot all dark haired people have dark eyes
P x. ea seeds
=round, r=wrinkled; =yellow,
y=green

RrYy

RY Ry rY ry
V he xst type of problem we will consider is the
easiest type, a single-factor cross.
V ÷ single-factor cross or mono-hybrid cross is a
genetic cross or mating in which a single
characteristic is followed from one generation to
the next.
 Single ¦actor Crosses
V f you cross a true breeding tall pea plant with
another tall pea plant, all the offspring will be tall.

T T
V T dd dd
V T
dd dd

V o better understand the cross, we use the unnett

square as shown above.
 Single ¦actor Crosses
Î
   true breeding  
  



  
  
 
 

    


Î d 
  
 


  


   

 Single ¦actor Crosses
Î
  
   

  
  




   
 
Y Y

Y
Y

Y
Y

Î 
  

  
  

 d  
        


 
 Single ¦actor Crosses
Î
   § Y
 Y   Y 


 § Y
 Y   Y

Y
dd d

Î    
 
   


       

Î d  
 
    
  


   

 !  
      

 Punette
Square
Predictions for
¦x and ¦Œ
Progeny

¦ £
 

¦
£   

V Test Cross is
the cross
between any
F progeny
and recessive
parent.
V ack Cross is
the cross
between any
F progeny
and any
parent.
V Tourette Syndrome (TS) is a neurological disorder
characterized by tics
V ics are involuntary, rapid, sudden movements or
vocalizations that occur repeatedly in the same
way.
V Motor tics can be described as rapid, repetitive
muscle movements, such as rapid eye blinking or
head jerking.
V Vocal tics, sometimes called phonic tics, are
phrases or sounds such as grunting, sniffing,
barking, throat clearing, and rarely, swearing.
V n humans, the allele for ourette syndrome mu is
inherited as an autosomal dominant allele.
V f both parents are heterozygous mtu, what is the
probability that they will have a child without ?

V teps in solving heredity problems ²

x. ÷ssign a symbol for each allele [, t]

. Determine the genotype of each parent [t, t]
3. Determine all the possible kinds of gametes each
parent can produce [, t]]
4. Determine all possible combinations that can result
when these gametes unite [ unette quare]
5. Determine the phenotype of each possible gene
combination










 

!"

V ÷llele enotype henotype

V =ourette  ourette syndrome
V t=
ormal t ourette yndrome
tt
ormal
  
  ¦








 













  

 






3. Determine all the possible 
kinds of gametes each parent
can produce
 

  

  

  

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 Autosomal
Dominant
Mutation
D Red = Mutant allele
D Mother has  copies
of the unaltered
chromosomes.
D 50% of the children
will inherit a
chromosome with
the dominant
mutation
V ecessive genetic disorders occur when both
parents are carriers and each contributes an allele
to the embryo.
V ÷s both parents are heterozygous for the disorder,
the chance of two disease alleles landing in one of
their offspring is Œ‰%
V ‰0% of the children are carriers.
V ghen one of the parents is homozygous, the trait
will only show in hisher offspring if the other parent
is also a carrier.
V n that case, the chance of disease in the offspring
is ‰0%.
V ÷ double factor cross or di-hybrid cross is a genetic
study in which two pairs of alleles are followed from
the parental generation to the offspring.
V ere you are working with  different characteristics
from each parent.
V t is necessary to use Mendel·s law of independent
assortment when considering di-hybrid crosses.
V n humans the allele for free earlobes is dominant
over that for attached earlobes.
he allele for dark hair dominates over that for light
hair.
V f both parents are heterozygous for earlobe shape
and hair color, what types of offspring can they
produce? ghat is the probability for each type?
x. ÷ssign a symbol for each trait
P =free earlobes; e=attached earlobes
P D=dark hair, d=light hair
. Determine the genotype and phenotype of each
combination








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3. Determine all the possible kinds of gametes each parent
can produce [6 6  ]
4. Determine all possible combinations that can result when
these gametes unite [ unette quare]



 


 

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6 66 66 6 6
 6 6  
 6 6  
 6

Phenotype
6 6


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6 66 66 6
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 he probability
    of having a
6 66 66 6
 6
 given
 
 
phenotype


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 9x = x
  ' ' 3x = 
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 xx = 4
 
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Px• ¦ree earlobes / Dark Hair
PŒ • ¦ree earlobes / light hair
& 
P3 • Attached earlobes / dark hair *''
På • Attached earlobes / light hair
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V he relationship of genotype to phenotype is rarely
simple like in our examples because there are
exceptions to all rules.

V Mendel lucked out in picking peas plants because

each trait is controlled by x gene, genetically
simple. But this is rare«.
V ets examine some deviations from Mendels aws«
V n some inheritance situations, alleles lack
dominant and recessive relationships.
V n cases of co-dominance, both alleles are fully
expressed phenotypically in the heterozygous
condition.
V his is not consistent with Mendel·s law of
dominance.
V gith co-dominance, the two traits both appear in
the offspring, often showing up in different parts of
the plant or animal.
ghen cattle of red coat are
crossed with the cattle of white
coat, the Fx hybrid is found to
possess red and white hairs
which occur in definite patches
but no hair has intermediate
color of red and white. he
resulting coat color is referred
to as roan.

If a roan female is crossed with a roam male, what

would (a) the genotypic ratio and (b) the
phenotypic ratio of the progeny be?
x. ÷ssign a symbol for each trait
P  = red hair; g = white hair;
. Determine the genotype and phenotype of each
combination
CR CR = red coat, CR CW = Roan Coat, CW CW = White Coat
3. Determine all the possible kinds of gametes each
parent can produce
 , g in both cases
4. Determine all possible combinations that can result
when these gametes unite [ unette quare]



 CR CW
henotypic atio
CR CR CR CRCW
x

x
CW CWCR CWCW ed
oan
ghite
V ncomplete dominance occurs in the heterozygous or
hybrid genotype where the Πalleles blend to give a
different phenotype
V Flower color in snapdragons shows incomplete
dominance whenever a red flower is crossed with a
white flower to produce pink flowers.
CRCR CWCW

CRCW CRCW

CRCR CRCW

CRCW CWCW
V he most well-studied example of incomplete
dominance in humans occurs in the genes for curly
hair.
V nheriting a gene for curly hair from one parent and
a gene for straight hair from the other parent will
give a hair texture that is a blend of the two, wavy
hair.
V n plants, snapdragons exhibit incomplete
dominance for color traits.
P ghen a red snapdragon and a white snapdragon are
crossed mmatedu, the color of the offspring is neither white
nor red.
P nstead, the resulting snapdragon will be pink.
V gith co-dominance in flowers, on the other hand,
the resulting offspring between red and white
parents would not be pink.
P nstead, they would be red with white spots or white with
red spots, the result of both colors being co-dominant.
V Many enes ave Multiple Alleles
P ÷ population might have more than two alleles
for a given gene.
P Ex. AO blood type genes
P ven if more than two alleles exist in a
population, any given individual can have no
more than two of them
one from the mother
and one from the father.
V uman blood types are encoded by a single locus
with 3 possible alleles
÷, B, O.
V ÷, B code for two different proteins, cell surface
antigens ÷ and B and O codes for lack of blood
antigen protein.
V ince humans are diploid, we have a blood type
that depends upon the proteins on the surface of
the blood cells.
V Blood group ÷ results from the genotype ÷ ÷ , B
results from B B and O results from O O.
V ghen the genotype is ÷ B , co-dominance is seen,
and the blood type is ÷B
IA and I are dominant alleles, IO (i) is recessive.
A man of blood type A marries a woman of blood type .
oth are heterozgyous for blood antigen. What are the
possible phenotypes of the offspring?
x. ÷ssign a symbol for each trait
P ÷ = ÷ antigen; B = B antigen; O or i = no antigen
. Determine the genotype and phenotype of each
combination
÷ ÷ or ÷ O = type A, ÷ B = type A, B B or B O = type , O O = type O
3. Determine all the possible kinds of gametes each
parent can produce
÷ , O and B , O
V Determine all possible combinations that can result
when these gametes unite [ unette quare]

gametes ÷ O
Phenotypic Ratio
B B÷ BO
x:x:x:x
O  O ÷  O O A:A::O
In this example, a father with blood type A and a mother
with blood type  have four children, each with a different
blood type: A, A, , and O.
V leio = changeable
V Multiple effects of a single gene on a phenotype.
V Most genes are Pleiotropic, affecting more than
one phenotypic trait
V xamples of diseases involving pleiotropy include

henylKetonUria
K   ÷
M÷
M÷F÷

DOM
V his is a genetic disorder in which some chemicals
in the body do not break down as they should.
hese chemicals can harm brain cells.
V hildren born with KU are given special diets.
V n this case, a single gene affects many chemical
reactions that depend on how a cell metabolizes
the amino acid phenylalanine.
V his phenomenon is referred to as PLEIOTROPY.
Phenylketoneurea r

one mutant gene,
many symptoms

ingle amino acid

substitution in the
hemoglobin
protein
V Marfan syndrome is an autosomal dominant
disorder that affects the connective tissue but can
also affect other tissues.
V ymptoms include

disproportionately long arms and legs
abnormally long fingers
skinniness
scoliosis of the spine
abnormally shaped chest
V Polygenic inheritance, the inheritance of a
characteristic which is controlled by more than one
gene. t can cause a great range in the phenotypic out
come of an individual.
P x. uman skin color controlled by ~5 genes.
P î
   

Y "  §Y  
P For simplicity, only 3 genes are considered.
P DxDD3 individual has dark skin color and dxdd3 has
light skin color.
P rosses between two [DxdxDdD3d3] heterozygote
individuals would yield offspring covering a vast
range of shades.
  



 

((  -


.


  

 

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/ 






 

÷÷ £ 
÷ £  
2 
÷nd similarly for the
other two genes - in all
cases dominance is
incomplete for each
gene.

hink of each ´capitalµ

allele m÷, B, u as
adding a dose of brown
paint to white paint.
V volution has selected for greater melanin
production in areas of greater light intensity to
protect against UV radiationskin cancer, and also
V selected for less melanin production in lower light
intensity regions to allow greater vitamin D
production.
V he selective advantages of particular skin colors
can now be overcome by the use of sun-block
creams and vitamin D supplements.
V Point to ponder for regular users of `¦air and Lovely·
or `¦air and Handsome·
idney oitier and regory eck
V ex chromosomes differ between males and females of
the same species.
V ÷utosomes carry the same genes in both sexes of a
species.
V n many organisms including humans, sex is determined
by the presence of a certain chromosome combination.
V n mammals, the genes that determine maleness are
located the -chromosome, a very small chromosome.
V he X and  chromosomes behave like homologous
chromosomes during meiosis.
V Males = X 
V Females = X X
Organism Sex Determination
Mammals X = male
Birds X = female; g is used for sex chromosomes in
birds
Bees Males mdronesu are haploid, females mworkers and
queenu are diploid
÷lligators, turtles and gg incubation ; higher temperature causes the
lizards msome sps.u embryo to develop into a female.
Boat hell snails Males can become females but remain males if
they mate and remain in one spot.
hrimp, orchids, and Males convert to females; on occasion females
some tropical fish convert to males, probably to maximize
breeding.
÷frican reed frog Females convert to males, probably to maximize
breeding.
V Occurs when genes are located on sex
chromosomes.
V The phenotype of an organism depends on
environment and genes.
V How Much of each?
V x. nutrition influences height and weight, exercise
alters build, sun-tanning darkens the skin, and
experience improves performance on intelligence
tests
V Ex. he ÷rtic Fox turns brown in summer and white in
winter so does snow shoe hair and grouse.
V x. ex in many animals is determined by
temperature [ x salamander]
06&#  1%6&# 
V Flower color in 0
 is
dependent on aluminum
and soil pH.
V Aluminum is necessary to
produce blue pigment.
V Most garden soils have
adequate aluminum, but
the aluminum will not be
available to the plant if the
soil pH is high (alkaline).
V lue flowers will be produced in acidic soil mp 5.5 and
loweru,
V whereas neutral to alkaline soils mp .5 and higheru will
usually produce pink flowers.
V Between p 5.5 and p .5, the flowers will be purple or a
mixture of blue and pink flowers will be found on the same
plant.
V ats of the imalayan series mcolour points, minks, sepiasu
have heat-sensitive tyrosinase enzymes.
V
ormal tyrosinase converts the amino acid tyrosine into
melanin mpigmentu.
V his enzyme denatures at normal body temperatures, the
color is formed only on the colder extremities of the body
mlegs, tail ears, faceu.
V his is why iamese
cats get darker in
winter and paler in
summer.
V f you put socks on your
iamese kitten for
several weeks, it would
end up with white
markings on its feet!
V Identical, or monozygotic, twins develop
from a single eggsperm combination
that splits a few days after conception.
V heir D
÷ originates from a single source,
thus their genetic makeup is the same
and the characteristics that are
determined by genetics will be similar.
V Monozygotic twins are always of the
same gender, except in extremely rare
cases of chromosomal defect.
V On the other hand, fraternal, dizogotic twins occur
when two separate eggs are fertilized by separate
sperm in a single ovulation cycle.
V hey are no more alike than any sibling set, sharing
about ‰0% of their genetic markers in a unique
combination of genes from both parents.
V Despite their shared genetic component, identical
multiples are unique individuals.
V hough they do share similarities, they also have
many differences.
V ghile identical twins form with the same set of
genes, human development is not just genetic.
V he environment also has an impact
V o, beginning in the early environment of the
womb, external influences can change the
appearance of twins.
Vl rofessors are inclined to
attribute the intelligence of
their children to nature, and
the intelligence of their
students to nurture.l