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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.