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GENETICS
The study of heredity.
Gregor Mendel
Was the first person to
analyze patterns of
inheritance.
An Austrian monk and
scientist who started the
modern genetics in 1860.
Deduced the fundamental
principles of genetics
In an Abbey Garden
Mendel studied garden
peas
These plant are easily
manipulated
These plants can selffertilize
The seed of the pea
plants are easy to obtain
and reproduce in only
about 90 days.
Stamen
Carpel
1 Removed stamens
from purple flower
Carpel
Parents
(P)
White
Stamens
2 Transferred pollen
from stamens of
white flower to
Purple carpel of purple
flower
3 Pollinated carpel
matured into pod
4 Planted seeds
from pod
Offspring
(F1)
Mendels experiment
Mendel carried some cross-fertilization.
He also created true-breeding varieties of
plants
Mendel then crossed two different truebreeding varieties, creating hybrids
Hybrid - An organism that receives different
genetic information for a trait from each parent.
Flower color
Purple
Recessive
Axial
Terminal
Seed color
Yellow
Green
Round
Recessive
Pod shape
Inflated
Constricted
Pod Color
Green
Yellow
Stem length
Tall
White
Flower position
Seed shape
Dominant
Dwarf
Wrinkled
Monohybrid Crosses
A monohybrid
cross is a cross
between parent
plants that differ in
only one
characteristic
P Generation
(true-breeding
parents)
Purple
flowers
White
flowers
All plants have
purple flowers
F1 Generation
Fertilization
among F1 plants
(F1 F1)
F2 Generation
/4 of plants
have purple
flowers
3
/4 of plants
have white
flowers
1
2.
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P plants
Gametes
All
All p
F1 plants:
(hybrids)
Gametes
All Pp
/2
F2 plants:
Phenotypic ratio
3 purple : 1 white
Eggs
/2 p
P
PP
p
Pp
Sperm
p
Pp
pp
Genotypic ratio
1 PP : 2 Pp : 1 pp
(b) Explanation ofEngr.
the results
in11part
(a)
Yvonne Ligaya
F. Musico
Parents:
Wild-type
Firstgeneration
offspring:
Sky-blue
wild-type
All
Matings
Secondgeneration
offspring:
/4
Wild-type
and
/4
Sky-blue
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Phenotype
An organisms physical traits
Genotype
An organisms genetic makeup
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Law of Segregation
Pairs of alleles segregate (separate) during
gamete formation; the fusion of gametes at
fertilization creates allele pairs again.
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Homozygous
When an organism has identical alleles for a gene
Heterozygous
When an organism has different alleles for a gene
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P Generation
RRYY
rryy
RRYY
Gametes RY
ry
rryy
ry
Gametes RY
RrYy
F1
Generation
RrYy
Eggs
Eggs
1
/2 ry
/2 RY
/2 RY
/2
Sperm
ry
F2
Generation
/4
/4
/4 rY
Ry
ry
/4 RY
RRYY
RrYY
RRYy
RrYy
RrYY
RrYy
/4 Ry
RRYy
Rryy
rrYy
Rryy
rryy
Actual results
support hypothesis
/4 ry
RrYy
RrYy
RRyy
Sperm
/4 rY
rrYY
rrYy
Actual results
contradict hypothesis
/4 RY
/16
/16
Yellow round
Green round
/16
Yellow
wrinkled
/16
Green
wrinkled
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Phenotypes
Genotypes
Black coat,
normal vision
B_N_
Black coat,
blind(PRA)
B_nn
Blind
Chocolate coat,
normal vision
bbN_
Chocolate coat,
blind (PRA)
bbnn
(a)
Mating of heterozygotes
(black, normal vision)
Phenotypic ratio
of offspring
(b)
BbNn
9 black coat,
normal vision
3 black coat,
blind (PRA)
BbNn
3 chocolate coat,
normal vision
1 chocolate coat,
blind (PRA)
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Testcross:
Genotypes
P_
pp
PP
Gametes
P
P
Offspring
Pp
Pp
All purple
P
p
Pp
p
pp
1 purple : 1 white
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F1 Genotypes
B b male
B b female
Formation of eggs
Formation of sperm
/2
B
1
/2
b
1
/4
/2
/2
(1/2 1/2)
B
1
/4
b
F2 Genotypes
Engr. Yvonne Ligaya F. Musico
b
/4
b
1
/4
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Mendels
principles apply
to the
inheritance of
many human
traits
Dominant Traits
Recessive Traits
Freckles
No freckles
Widows peak
Straight hairline
Free earlobe
Attached earlobe
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Family Pedigree
Shows the history of a trait in a family
Allows researchers to analyze human traits
Female
Dd
Joshua
Lambert
Dd
Abigail
Linnell
D_
Abigail
Lambert
D_
John
Eddy
dd
Jonathan
Lambert
Dd
Dd
dd
D_
Hepzibah
Daggett
Male
Deaf
Hearing
Dd
Elizabeth
Eddy
Dd
Dd
Dd
dd
Engr. Yvonne Ligaya F. Musico
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Incomplete dominance
Cases in which neither allele is dominant over the
other.
A heterozygote shows a phenotype that is
intermediate (blend of the phenotype of two allele)
between the two homozygous phenotype.
CODOMINANCE - Condition when the
heterozygotes exhibit the trait of both parents.
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Recessive Disorders
Most human genetic disorders are recessive
Individuals can be carriers of these diseases
Normal
Dd
Parents:
Normal
Dd
D
Eggs
DD
Normal
d
Offspring:
D
Sperm
d
Dd
Normal
(carrier)
Dd
Normal
(carrier)
dd
Deaf
Figure 9.16
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Dominant Disorders
Figure 9.17
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Polygenic Inheritance
P Generation
aabbcc
(very light)
Polygenic Inheritance
is the additive effects
of two or more genes
on a single phenotype
AABBCC
(very dark)
F1 Generation
AaBbCc
AaBbCc
F2 Generation
Eggs
Sperm
Figure 9.22
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Sex determination
XX chromosomes Female
XY chromosomes - Male
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Sex-linked traits
Sex-linked disorders such as color blindness
and hemophilia are caused by recessive genes
located on the X-chromosome,
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Sex-linked traits
Hemophilia the inability of
blood to clot. Hemophilia
causes uncontrollable internal
bleeding into the kidneys,
brain and other vital organs.
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Sex-linked traits
The most famous carrier of
hemophilia was Queen Victoria who
unknowingly passed the gene on
one of her son and two of her
daughter.
Fortunately, the gene for hemophilia
has not been passed on to any of the
current European royalty
Engr. Yvonne Ligaya F. Musico
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http://www.knowledgene.com/public/view.php3?db=gene_school&uid=35
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Leopold
suffered from
frequent
hemorrhages
and died of one
at the age of
31.
http://www.knowledgene.com/public/view.php3?db=gene_school&uid=35
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Beatrices
lineage is the
link between
Queen
Victoria and
the Spanish
connection to
hemophilia.
39
Queen
Victoria's third
child, Alice,
passed
hemophilia to
the German
and Russian
royal families.
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Sex-linked Traits
Not all sex-linked genes are located on the X
chromosome.
The gene for hair earlobes occur on the Y
chromosome. This trait never appears in women.
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Sex-limited traits
Sex-limited Traits genes are expressed only
if they are carried by an individual of a
particular sex.
Example:
Heavy beard appears only in men.
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Sex-influenced traits
Certain genes are dominant in one sex and
recessive in the other.
Example:
Baldness is dominant in men and recessive in
women.
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Fetal testing
Alpha-Fetoprotein Screening (AFP)
A blood test that measures the level of alphafetoprotein in the mothers' blood during
pregnancy.
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Fetal testing
Amniocentesis
a procedure used to obtain
a small sample of the
amniotic fluid that
surrounds the fetus to
diagnose chromosomal
disorders and open neural
tube defects (ONTDs)
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Fetal testing
Ultrasound Scan
A diagnostic technique which uses high-frequency
sound
waves to create an image of the internal organs.
A screening ultrasound is sometimes done during the
course of a pregnancy to monitor normal fetal growth
and verify the due date.
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Fetal testing
Chorionic Villi (Villus) Sampling (CVS)
A prenatal test that involves taking a
sample of some of the placental tissue.
This tissue contains the same genetic
material as the fetus and can be tested
for chromosomal abnormalities and
some other genetic problems
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Acknowledgement
Special thanks to.
Pearson Education Incorporated, Inc
Publishing as Benjamin Cummings (2004)
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