inheritance new
TRANSCRIPT
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CHAPTER 5
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Concept of Inheritance Based on
Mendels Experiment
Gregor Mendel (1822-1884).
An Austrian monk.
Known as father of genetics.
Observed garden pea plant (Pisum sativum) had
different characteristics: some had tall stems,
others had short stems; some had round seeds,
others had wrinkled seeds.Decided to carry out breeding experiment using
7 distinct characteristics of pea plants to find out
how these were transmitted from generation to
generation.
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CHARACTERISTICS TRAITS
STEM LENGTH Tall Short
FLOWERPOSITION
Axial Terminal
FLOWER COLOUR Purple White
POD (FRUIT)SHAPE
Inflated Constricted
POD COLOUR Green Yellow
SEED SHAPE Round Wrinkled
SEED COLOUR Yellow Green
The seven garden pea characteristics studied by Gregor Mendels
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Meaning of Inheritance,Characteristics and Trait
Inheritance: The transmission of particularcharacteristics from generation to generationby means of genetic code on the DNA of a
chromosome.Characteristic: A distinctive inherited
feature of an organism, such as height andcolour
Trait: Each variant for a specificcharacteristic. Eg: Seed colour ischaracteristic; yellow seed and green seed
are traits for this characteristic.
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Monohybrid Inheritance
A genetic cross between two parents that
differed in only one characteristic known
as monohybrid inheritance.
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Monohybrid inheritance
Mendel used pure breeds of tall and short
plants as the parents (P) and artificially cross-
pollinated them.
He observed that all the hybrid offspring of the
first filial generation (F1) were tall plants.
Mendel called the trait (tall stem) that showed
up in the F1 generation dominant and the trait(short stem) which did not show up
recessive.
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He then, allowed the F1 plants to self-
pollinate. The seeds produced are planted
and produced the second filial generation
(F2). He recorded the number ofindividuals.
From 1064 plants, 787 were tall and 277
were short giving an approximate ratio 3:1.
Monohybrid inheritance
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Monohybrid Cross
ParentsPhenotypeGenotype
Tall X ShortT T t t
T TGametest t
Randomfertilisation
TtTtTtTt
All the first generation, F1, are tall plants and have the genotype Tt
When there is self-pollination of the F1 plants (Tt X Tt)
(continue next slide)
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Monohybrid Cross
T t X T t
Gametes T t T t
Randomfertilisation
TT Tt Tt tt
In the second filial generation, F2, the ratio obtained is 3 tall plants : 1 short plant
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whitepurple
x
all purple
705 purple 224 white
monohybrid ratio 3:1
pure-breedingparentsfirst filial (F1)
generation
second filial (F2)generation
Monohybrid Inheritance
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From the results, Mendel made the following
deductions:
Within each organism are hereditary factors.
Each characteristic is determined by two hereditaryfactors in the chromosomes.
During the formation of gametes, the two factors are
separated and each gamete contains only one factor.
Fertilisation of gametes is at random; the zygotecontains two factors for a particular characteristic.
If the two factors differ, the factor that shows up its
effects is dominant while the other is recessive.
Monohybrid inheritance
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Mendel then proposed the First Law which
states that each hereditary characteristic is
controlled by the two factors.
During gamete formation, the two factors
separate or segregate and each gamete
will contain one factor.
Monohybrid inheritance
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Mendels First Law or Law of
Segregation states that each individualcharacteristic of an organism is
determined by a pair of alleles. The pairsof alleles segregate during meiosis and
only one of each pair of alleles can be
presented in a single gamete.
Monohybrid inheritance
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Terms used in genetics
Gene: A basic unit of inheritance thatdetermines a particular characteristic in an
organism. Consists of a segment of DNA
nucleotide on a specific locus of a chromosome.It controls a particular trait in an organism.
Allele: One of two alternative forms of a genethat can have the same locus on homologous
chromosome. One of each pair comes from themale parent and the other from the female
parent.
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Terms used in genetics
Locus: The location of a gene on thechromosome.
allele for dark skin colourallele for white skin colour
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Terms used in genetics
Dominant allele: the allele that produces thephenotype of the organism
Recessive allele: the allele that produces the
phenotype of the organism only when there is nodominant allele present.
Genotype: the genetic constituent of anorganism.
Phenotype: the observed characteristics of anorganism which is determined by the specificgenotype.
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Terms used in genetics
Homozygote: An organism where both the allelesof a particular gene of a pair of homologous
chromosomes are identical. Eg. TT, tt
Heterozygote: An organism where the alleles of aparticular gene on a pair of homologous
chromosomes are different. Eg. Tt
Pure line (pure breed): A population of organisms,
all having the same particular trait that has beengenetically unchanged through many generations.
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Dihybrid Inheritance
Mendel then carried out dihybrid crosses
to explain how two different characteristics
were inherited.
Inheritance involving a cross between two
parents that differ in two characteristicsis known as dihybrid inheritance.
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Dihybrid cross
Parent (P)PhenotypeGenotype
Tall, round seed
TTRR
X Short, wrinkled seed
ttrr
Gamete
Fertilization
All TR All tr
F1 GenerationGenotypePhenotype
TtRr
All tall, round seeds
Allow F1 plants to self-pollinate TtRr X TtRr
MeiosisTR Tr trtR trtRTrTR
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Dihybrid cross
TR Tr tR tr
TR TTRR
Tall,round
TTRr
Tall,round
TtRR
Tall,round
TtRr
Tall,round
Tr TTRrTall,round
TTrrTall,wrinkled
TtRr
Tall,round
TtrrTall,wrinkled
tR TtRR
Tall,round
TtRr
Tall,round
ttRR
Short,round
ttRr
Short,round
tr TtRr
Tall,round
Ttrr
Tall,short
ttRr
Short,round
ttrr
Short,wrinkled
MalegameteFemale
Gamete
F2 generation
PhenotypeRatio
Tall plant, Tall plant, Short plant Short plant
round seed wrinkled seed round seed wrinkled seed9 : 3 : 3 : 1
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Dihybrid cross
From the dihybrid cross, Mendelproposed his second hypothesis whichknown as Mendels Second Law or Lawof Independent Assortment
Mendels Second Law or Law ofIndependent Assortment states thatduring gamete formation, each member
of a pair of alleles may combinerandomly with either member ofanother pair of alleles.
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ABO Blood Group System
The human ABO blood group is an example ofmultiple alleles and there are three alleles involved.
However, only two out of these three alleles can bepresented on the same gene locus of a pair of
homologous chromosomes in a single diploidorganism.
The alleles determine the type of antigens found onthe membrane of red blood cells.
AllelesIAand IB are dominant to allele IOwhich isrecessive.
Alleles IAand IB are codominant and areexpressed eqully in the phenotype of the
heterozygous offspring.
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ABO Blood Group System
Genotype Phenotype
(Blood Group)
Types ofantigen on red
blood cell
Antibody inblood plasma
IA IAIA IO
Blood group A A Anti-B
IB IBIB IO
Blood group B B Anti-A
IA IB Blood group AB A and B None
IO IO Blood group O None Anti-A and Anti-B
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Rhesus Factor in Human
The rhesus factor (Rh factor) is referring tothe antigen found on the surfacemembrane of some red blood cells.
People who have Rhesus factor are saidto be Rhesus positive (Rh+) and those whodo not are considered Rhesus negative(Rh-).
Allele Rhesus positive is dominant to alleleRhesus negative.
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Rhesus Factor in Human
A Rhesus negative mother who becomes
pregnant by a Rhesus positive
heterozygous father has a 0.5 probability
of having a child who is Rhesus positive.
If the father is homozygous dominant for
Rhesus positive, then the child would be
Rhesus positive.
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Rhesus Factor in Human
Problem will arise during pregnancy if themother is Rh neg and the child is Rh pos.
During late pregnancy or during birth,
some of the foetal blood cells may enterthe mothers blood.
This triggers the mothers blood to
produce anti-rhesus antibodies. Theharmful effects do not show in the firstpregnancy.
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Rhesus Factor in Human
When the mother get second pregnancy, theantibodies level builds up in the maternalbloodstream.
Her anti-rhesus antibodies may cross theplacenta and cause agglutination andhaemolysis of the foetal red blood cells.
The condition is known as erythroblastosis
fetalis. The baby may suffers from jaundice,severe anemia and damage of the heart, liverand brain.
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Human Autosomes and SexChromosomes
Each human somatic (body) cell contains46 chromosomes. There are 22homologous pairs of autosomes and
one pair of sex chromosomes.Autosomes are chromosomes that occur
in homologous pairs in both males andfemales. They do not contain gene thatcontrol sex determination. They haveidentical appearance in both male andfemale.
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Human Autosomes and SexChromosomes
Sex chromosomes are the chromosomescontaining genes that determine the sex ofan organism.
Human females have two identical sexchromosomes called X chromosomes.
Human males have one X chromosome
and one smaller Y chromosome.The Y chromosome carries fewer genes
than the X chromosome.
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Human Karyotype
Male Karyotype Female Karyotype
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Human Autosomes and SexChromosomes
Downs syndrome is an example where anindividual has an abnormal number ofautosomes.
The individual has trisomy 21 that is threechromosome 21 instead of two chromosome21.
It is the result of non-disjunction during meiosis
where the two homologous chromosome 21 failto separate normally during anaphase I oranaphase II of meiosis.
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Downs Syndrome
Individuals with Downs syndrome have flat, broad faces, slanted
eyes, a protruding eyes, protruding tongue, short palms and tend tobe mentally retarded.
The risk of having a Downs syndrome child increases with maternal
age.
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Downs Syndrome
The karyotype of
a person with
DownsSyndrome
Trisomy 21
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Sex Determination In Human
During the formation of gametes in thefemale, the sex chromosome segregate(separate), all the female eggs produced
contain 22 autosomes and one Xchromosome.
The human male produces two types ofsperms: sperms with 22 autosomes andone X chromosome and sperms with 22autosomes and one Y chromosome.
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Sex Determination In Human
As the mothers egg (ovum) contains only
X chromosome, it is therefore the fathers
sperm that determines the sex of the child.
If the sperm carrying an X chromosome
fertilises the ovum, the child is female.
If the sperm carrying a Y chromosome
fertilises the ovum, the child is male.
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Sex-linked Inheritance in Humans
Humans have a pair of sex chromosomes.
However, not all genes located on these
chromosomes are involved in sex determination.
These genes that are not involved in sexdetermination are called sex-linked genes.
Most sex-linked genes are carried by the Xchromosome because X chromosome largerthan the Y chromosome and can carry more
genes.
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Examples of sex-linked disease
Haemophilia Hereditary sex-linked disease caused by recessive allele found
on the X chromosome.
When there is injury, the blood clots very slowly owing to thelack of blood-clotting factors
This leads to excessive loss of blood. Affects males more than females.
In females, if only one X chromosome carries the recessiveallele, its effect will be masked by the dominant allele on theother X chromosome. These heterozygous females (XHXh) arecarriers.
They do not suffer the disease but may pass the recessiveallele on to their offspring.
Female will suffer from the disease if only she inherits bothrecessive alleles ( XhXh) from her parents.
Males need to have only one recessive allele (XhY) to inheritthe disease.
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Examples of sex-linked disease
Colour blindness
Unable to see the difference between all or
some colours.
Most common example is red-green colourblindness.
Caused by recessive allele located on the X
chromosome.
More common in males than females.
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Hereditary diseases
Hereditary diseases are disorders that can beinherited.
Some hereditary diseases are caused bydefective genes found on the autosomes.
Eg: Cystic fibrosis, albinism, sickle cell anemiaand thalassemia.
Other hereditary diseases are sex-linked
commonly X-linked. Eg: red-greed colour blindness, haemophilia,
Duchenne muscular dystrophy.
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Chromosomes and Genes
A gene is a basic unit of inheritance. The traits which you inherit from your parents
are controlled by genes found on thechromosomes in the nucleus.
Human somatic cell contains 23 pairs ofchromosomes.
Each chromosome is made up of a long DNA(deoxyribonucleic acid) molecule coiled around
protein molecules called histonesA DNA molecule contains thousands of genes
which code for the synthesis of specific proteins.
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Structure of a DNA nucleotide
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Chromosomes and Genes
A DNA molecule consists of two polynucleotide
strands coiled together to form a double helix.
The two strands are antiparallel that is facing the
opposite directions. The base adenine linked to thymine, and
cytosine to guanine by hydrogen bonds.
The sequence of nitrogenous bases forms the
genetic codes that determine the characteristics
of organisms.
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Application of Knowledge in Geneticsto Mankind
Selective breeding
Apply in both animals and plants.
To produce offspring that possess desirable
characteristics of both parents.Eg: selection of suitable oil palm plants to
produce a hybrid plant with desirable
characteristics.
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Application of Knowledge in Geneticsto Mankind
Genetic engineering
Also known as recombinant DNA technology.
Involves techniques used to alter characteristics of an
organism by introducing target genes from another
organism into its DNA.
This modified DNA is known as recombinant DNA.
The organism with the recombinant DNA is known as a
genetically modified organism (GMO).
Genetic engineering also used in gene therapy and
commercial production of drugs such as insulin and
vaccines for hepatitis B.
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DNA Fingerprint
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Human Genome Project
A genome is an organisms complete set of
genes made up of DNA nucleotide bases.
The human genome project was formed to:
Determine the sequence of all the base pairs found inthe DNA of human genome.
Make maps showing the exact locations of genes for
major sections in human chromosomes.
Produce linkage maps where inherited traits, forexample, genetic diseases can be tracked over
generations.