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    Chapter 3HEREDITY AND VARIATION.

    3.1 Cell Division.

    Chromosomes.

    are the nucleus of a cell contains many small thread-like structures.

    made of deoxyribonucleic acid (DNA) and protein.

    contain hereditary material called genes.

    the nucleus of each organisms cell contain chromosomes which always

    exist in pairs (except in gametes).

    example : a human has 23 pairs of chromosomes.

    in each pair of chromosomes, one chromosome inherited from the father

    and one from the mother.

    all somatic cells of the same type of organisms have the same number of

    chromosomes.

    by determining the number of chromosomes in the nucleus of a cell, the

    type of organism can be known.

    Genes.

    are hereditary material or heritable characteristics located on

    chromosomes.

    is a DNA unit which functions to code the heritable characteristics.

    example : passes on hereditary information from one generation to

    another.

    exist in pairs. one gene is inherited from the father and one from the mother.

    genes determine characteristics like body height, hair colour, fingerprint,

    and appearance.

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    Relationship between gene, chromosome, and DNA.

    Type of Cell Division.

    the processes of reproduction and growth of any organism involve cell

    division

    there are two types, which is :

    mitosis

    meiosis

    Mitosis

    is a cell division process which takes place only in somatic cells.

    for plants, it occurs at the tip of the root and shoot.

    through mitosis, each daughter cell contains the same number of

    chromosomes, and thus the same genes, as the parent cell.

    the importance of mitosis :

    a) forms new cells for growthb) forms new cells to replace cells or tissues which are damaged

    or have died.c) enables hereditary material in parent cell to be passed on to

    daughter cells.d) enables asexual reproduction in some organisms.

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    Human Cells Chromosomes

    Deoxyribonucleic acid (DNA)GenesCharacteristics in human

    builtof

    containing containing of

    formingdetermining

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    Meiosis

    the process of cell division to produce gametes with half of the number of

    chromosomes of the parent cell.

    occurs only in the reproductive organs.

    occurs in the testis of a male and the ovary of female who have attained

    sexual maturity. meiosis also occurs in the anther and ovary of plants.

    meiosis causes variation among species of the same organism.

    this is because the chromatids overlaps with one another and the

    exchange of genetic material (chromosomes and genes) takes place.

    this occurrence is called crossing over.

    exchange of genetic material among chromatids during crossing over

    produces a combination of new genes in gametes.

    this process causes genetic variation.

    this also explains why children that are born to the same parents show

    different characteristics. the importance of meiosis :

    a) ensures that the number of chromosomes is diploid in thezygote when the nucleus of sperm fuses with the nucleus of anovum during fertilisation.

    b) combination of different chromosomes and crossing over whichoccur causing variation to take place in the next generation.

    Comparison between meiosis and mitosis

    Similarities

    chromosome replication takes place

    call division occurs new cells are produced

    Differences

    When this process happens

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    Meiosis Mitosis

    During theformation ofsomatic cells

    During theformation of

    gametes

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    Where this process happensin animals

    Where this process happens

    in plants

    Number of cell division

    Replication Process

    Number of daughter cellsproduced

    Number of chromosomes indaughter cells comparedto those in parent cell

    Genetic make-up in daughtercells compared to those of

    parent cell

    Crossing Over

    3.2 Principles and Mechanism of Inheritance.

    Dominant genes and recessive genes.

    gametes involved in fertilisation contain chromosomes, chromosomes are

    made up of DNA molecules, certain segments in the DNA are made up ofgenes, these genes are responsible for traits.

    examples of traits passed on from parents are skin color, hair color, blood

    group and height.

    genes that exist in pairs in chromosomes control the characteristics

    inherited from the parents. there are two types of genes :

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    Somaticcells

    Testes andovaries

    Tip of the rootand shoot

    Anther andovary

    OnceTwice

    OccursOccurs duringthe first celldivision only

    TwoFour

    SameHalf

    SameDifferent

    Doesnthappen

    Happens

    Dominant genes Recessive genes

    are genes whichshow the

    characteristicsthat they controlwhen paired witha dominant gene

    or a recessivegene.

    are genes whichonly show thecharacteristics

    that they controlwhen these

    genes are paired

    with anotherrecessive gene.

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    dominant genes are represented by the letter T.

    recessive genes are represented by the letter t.

    Mechanism of trait inheritance.

    the studies of Gregor Mendel on the pea plant can explain trait inheritance

    in organisms.

    Mendel cross-bred tall pea plats which were pure breed with short pea

    plants which were also pure breed.

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    thecharacteristicsdetermined bythis genes are

    called dominanttraits.

    thecharacteristicsdetermined bythis genes are

    called recessivetraits.

    dominant traitsare shown if oneor both dominant

    genes whichcontrol theparticular

    characteristicsare resent.

    recessive traitsare only shown if

    the recessivegenes are not

    paired withdominant genes.

    human traitscontrolled by this

    genes

    tall, curly hair,

    free ear lobe,black hair, ableto roll the tongue,

    dimples, longeye lashes, right-

    handed,pigments in skin,black or brown

    iris, normaleyesight

    human traitscontrolled by this

    genes

    short, straight

    hair, attachedear lobe, blondhair, unable toroll the tongue,

    no dimples, shorteye lashes, left-handed, albino,blue iris, colour-

    blindness

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    he found that all pea plants in the first generation were tall.

    the tall pea plants in the first generation were then cross-bred among

    themselves.

    Mendel found that three quarters of the pea plants in the second

    generation were tall and one quarter of them short.

    in this experiment, only one trait inheritance is studied, hence, thatinheritance is called monohybrid inheritance.

    genotype refers to the genetic make-up of an organism.

    phenotype refers to the physical appearance which can be seen in an

    organism.

    example, if a tall person has a TT gene, he is said to have TT genotype

    and shows tall phenotype.

    organisms in the first filial generation, F1, are called hybrids.

    a hybrid contains a dominant gene and recessive gene. ex : impure breed

    (Tt)

    combination of gametes at the first filial generation, F1, can be shown inthe Punnett Square.

    Gen T t

    TtttT TT Tt

    t

    Punnet square

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    TT tt

    t tTT

    tall plant(pure breed)

    dwarf plant(pure breed)

    xParents

    Meiosis

    Gametes

    Fertilisation

    First filialgeneration

    all plants in the

    first filialgeneration, F1,are tall (100%)

    this situation

    shows that talltrait is controlledby the dominantgene while shorttrait is controlledby the recessivegene.

    Tt Tt Tt Tt

    T ttT

    Tt Tt Tt tt

    tall plant(hybrid)

    tall plant(hybrid)

    Tt Tttall tall tall tall

    xFirst filialgeneration

    Gametes

    Fertilisation

    Meiosis

    ratio of plantsthat are tall todwarf plants are3 : 1.

    probability of

    obtaining tallplants in thesecondgeneration is75% while theshort plants is25%.

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    3.3 Sex Determination and The Occurrence of Twins in Human Beings.

    Sex Chromosomes

    a human somatic cell has 23 pairs of chromosomes (46 chromosomes).

    from the 23 pairs of chromosomes, 22 pairs are autosomes and one pair

    is sex chromosomes.

    sex chromosome determine the sex of a person.

    male sex chromosomes are XY.

    male somatic cell contains 22 pairs of autosomes with one X chromosome

    and one Y chromosome. 44 + XY

    in meiosis, a male produces two types of gamete which :

    o carries 22 autosomes and one X chromosome. 22+X

    o carries 22 autosomes and one Y chromosome. 22+Y

    female sex chromosome is XX

    female somatic cell contains 22 pairs of autosomes and two X

    chromosomes. 44 + XX

    in meiosis, a female gamete only carries 22 autosomes and one X

    chromosome. 22+X

    Sex Determination.

    the sex of child is determined by the father according to the type of spermthat fertilises the ovum.

    if a sperm that carries

    o the x chromosomes fertilises an ovum, a baby girl is born.

    o the y chromosomes fertilises an ovum, a baby boy is born.

    the probability of having a male child or female child is the same> 50 : 50

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    tall tall tall dwarf

    Second filialgeneration

    22 +X

    22 +X

    22 +Y

    22+X

    44 +XX

    44 +XX

    44 +XY

    44 +XY

    44 +XY

    44 +XX

    female female male male50 : 50

    Parents

    Gametes

    Fertilisation

    Offspring

    Meiosis

    x

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    Occurrence of twins. in humans, normally one ovum fertilised by one sperm to form one zygote

    which will develop to form an embryo.

    sometimes more than one embryo is produced in a pregnancy.

    twins - two babies born to a mother in a pregnancy and generally at the

    same time.

    - there are two types of twins identical twins

    non-identical twins

    Comparison between identical and non-identical twins.

    Similarities two babies born in a pregnancy

    Differences

    Differences Identical Twins Non-identical twins

    Formation

    Formed when an ovumfertilised by a sperm dividesinto two to form two similarembryos.

    Formed when two ova arereleased by the ovary at thesame time and fertilisedseparately by two sperms toform two different embryos.

    PlacentaThe two embryos formed willgrow in one shared placentain the mothers uterus.

    The two embryos formedwhen grow in separateplacentas in the mothersuterus

    Genetic make-up

    Same genetic make-up.Therefore, identical twinshave the same appearanceand the same sex.

    Different genetic make-upsince they originate from twodifferent ova and sperms.Therefore, non-identicaltwins have differentappearances.

    SexThe sex of identical twins arethe same.

    The sex of non-identicaltwins may be the same ordifferent.

    sometimes the division of the embryo is not complete, therefore Siamese

    twins are formed.

    Siamese twins may share certain organs like brain, stomach, or heart and

    maybe joined to one another at the head, abdomen, breast, or buttocks.

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    they can be separated by surgery if they do not share important organs

    like brain, heart, kidneys, or lungs.

    3.4 Mutation

    is the spontaneous change to the structure of genes or chromosomes of

    an organism.

    causes change of characteristics in a child.

    occurs in somatic cells or in gametes.

    the effect of mutation will be inherited by one generation to another.

    there are two types of mutation gene mutations

    chromosome mutations

    Gene Mutations

    involve changes in the structure of gene.

    gene mutations change or produce the new genes to replace normal

    genes.

    genes that have undergone mutation are called mutants.

    Heredity diseasecaused by gene

    mutation

    Brief explanation

    Albinism albinisms is caused by the change in the gene that

    controls skin colour.

    the newly produced genes are unable to produceskin pigment.

    the skin and hair of albinos are white and their eyes

    are pink.

    Sickle cell anaemia sickle cell anaemia is a type of disease caused by the

    change in the genes that produce haemoglobin.

    haemoglobin that has undergone mutation is not

    efficient in transporting oxygen.

    Colour-blindness is a sex-linked disease determined by a recessive gene

    on the X chromosome.

    a colour-blind person cannot see or differentiate thecolours red and green.

    Haemophilia caused by the deficiency if a type of protein in the blood

    required for blood clotting.

    haemophilia is caused by the deficiency of a type of

    protein in the blood required for blood clotting.

    haemophilia is a sex-linked disease determined by a

    recessive gene on the X chromosome.

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    a patient who has wound will experience continuous

    bleeding or will take a long time for the blood to clotthus this condition way lead to death.

    Chromosome Mutations

    involve changes in the number of chromosomes or arrangement of genes

    in chromosomes.

    sometimes, a portion of a chromosome may break away and go missing,

    or become attached itself to other chromosomes.

    this causes the arrangement of a chromosome to change and differ from

    normal.

    the number of chromosomes can be increased or decreased

    chromosome mutations can cause hereditary diseases like Downs

    syndrome, Klinefelters syndrome, and Turners syndrome.

    Downs syndromeo this heredity disease is caused by the presence of one extra

    chromosome at chromosomes 21 in the somatic cells.o incomplete separation of chromosomes during meiosis causes the

    zygote to have an extra chromosome : 47 in total.o characteristics of a downs syndrome patient :

    i. slanting eyesii. metal retardation

    iii. short fingersiv. wide distance between eyesv. small mouth but big tonguevi. protruding tongue causing the mouth to remain partially open

    Klinefelters syndromeo a person who suffers from this hereditary diseases has one extra X

    chromosome : XXY

    Turners syndromeo a person who suffers from this hereditary lacks one X chromosome.

    o people with Turner;s syndrome have only one sex chromosomewhich is XO.

    Factors that cause mutation.i. mutation can occur naturally, caused by substances found in food or

    environment.ii. agents causes mutations are called mutagens.

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    iii. chemical substances like pesticides, nicotine in cigarettes, drugs, nitrousacid and some preservatives, colouring and artificial sweetener can causemutation.

    iv. radiation radioactive radiation can cause mutation gamma ray can affect growth and cell division

    ultraviolet rays and X-ray rays can cause skin cells to mutateand this may cause cancerv. temperatures which are too high or too low can also cause mutation.

    Advantages and disadvantages of mutation.

    not all occurrences of mutation bring adverse effects to organisms.

    advantages of mutation

    mutation causes variations in organisms which allow them toadapt to the environment.

    species that are more resistant to disease, weather, andpolluted environment can be produced.

    disadvantages of mutation some mutations cause diseases like colour-blindness and

    haemophilia cannot be cured.

    sometimes, disease like haemophilia and sickle cell anaemiacan cause death.

    Klinefelters syndrome causes infertility.

    mutation causes physical, mental, or foestus retardation.

    3.5 Effects of Genetic Research on Human Life.1. Research in genetics has contributed greatly to medicine and agriculture.

    2. In medicine, genetic research has helped to identify various hereditarydiseases and ways to prevent those diseases.

    3. In agriculture, genetic research aims at :

    improving the quality of breeds through selective breeding

    bringing in new species with higher resistance to diseases or pests

    obtaining the production of large quantities of crops and livestock in the

    shortest time.

    Medicine.

    most of the hereditary diseases like colour-blindness, haemophilia and

    albinism are caused by recessive genes.

    genetic research can tell us how albinism caused by recessive genes an

    autosomes is inherited.

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    several types of recessive genes that cause hereditary diseases are only

    found in the X chromosome. (such genes are called sex-linked genes)

    such genes are normally passed down by females who are the carrier to

    their children.

    colour-blindness and haemophilia are example of hereditary diseases

    caused by sex-linked genes in humans. a female can only suffer from colour-blindness if she has both recessive

    genes of this characteristics.

    a male will suffer from this diseases if he has one recessive gene.

    these are genes which are present in the X chromosomes but not in the Y

    chromosomes.

    inheritance of albinism in humans

    inheritance of colour-blindness in humans

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    A aaA

    AA Aa Aa aa

    Aa AaParents

    Gametes

    Fertilisation

    Genotype ofOffspring

    Meiosis

    Characteristics ofOffspring

    normal normal but normal but albinois a carrier is a carrier

    X XbYX

    XX XXb XY XbY

    XY XXb

    normal normal girl normal boy colourgirl but is a carrier but is a carrier -blind boy

    Parents

    Fertilisation

    Genotype ofOffspring

    Meiosis

    Characteristics ofOffspring

    Gametes

    x

    x

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    hereditary diseases like Downs syndrome can be identified on the foetus

    in the mothers womb.

    foetal cells in the mothers amniotic fluid are examined under a

    microscope.

    if 47 chromosomes are observed in the foetal nucleus, the foetus is

    proved having Downs syndrome. today, genetic engineering enables the transfer of DNA or genes from one

    organism to another.

    Agriculture.

    selective breeding is done on crops and livestock.

    plants or livestock are cross-bred from different varieties to produce new

    varieties which have the desired characteristics.

    Type of crop Parent plant Hybrid Characteristics of hybrid

    Paddy PETA from Indonesiaand DGWG fromChina

    IR-8 Bear more fruits, ripenfaster and are moreresistant to dry season

    Oil palm Pisifera with dura Tenera Bear more fruits and havethinner shell with morecontent

    Maize Sweetcorn fromTaiwan and Mexico

    Masmadu Fruits are sweeter, bigger,and more resistant todisease and dry season

    Papaya Subang 6 andSunrise Solo fromHawaii

    Exotica Fruits are sweeter andhave more content

    examples of selective breeding in crops

    Type of livestock Parents Characteristics of new breed

    Cow Fresian and local New breed produces moremilk and are more adaptable tothe change in the environment

    Cow Female cow and male wildox

    New breed (selembu) thatgrows faster and produces

    better qualityGoat Jumnapari goat from Indiaand local goat

    New breed that can producemore meat and milk

    Sheep Sheep from Australia andlocal Malin

    New breed (Malin-X) is biggerin size, matures faster,supplies better quality meatand wool

    Chicken Imported and local New breed that grows and

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    kampungchicken matures faster

    examples of breeding in livestock

    techniques of artificial insemination and embryo transfer are used in cross-

    breeding

    artificial insemination good quality semen from the male animal is placedinto the body of the female animal for fertilisation

    embryo transfer an embryo of a good breed is placed into the uterus of a

    female animal

    Genetic engineering.

    3.6 Variation Among Living Things.

    variation is the differences in the characteristics which exists among

    individuals of the same species

    there are two types of variation : continuous variation

    discontinuous variation

    Continuous Variation.

    refers to characteristics which do not show obvious variation in a trait

    among individuals of the same species.

    has continuous intermediate range between two extremes.

    examples of continuous variation are :

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    Genetic Modification

    Advantages Disadvantages

    Body health

    food containing certain nutrients required

    by the body can be produced.

    Better quality crops and livestock

    better quality of crops and livestock can

    be produced.

    quantity can be increased. crops and livestock that grow faster can

    be produced.

    Conservation of environment

    the use of pesticide can be reduced with

    the production of crops which have high

    Nutritional value of food

    generically modified food may not have

    the same nutritional value.

    Effect of new genes

    new genes in food may be transferred to

    the human body.

    such genes may affect the functions ofhuman cells.

    Long-term effect

    new species of crops and livestock which

    adapt better to the change in theenvironment might cause authentic

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    i. heightii. body weightiii. intelligenceiv. skin colourv. width of shoulder

    vi. length of sole continuous variation can be shown by a histogram

    Discontinuous Variation.

    discontinuous variation refers to characteristics which shows obvious and

    definite variation in a trait among individuals if the same species examples of discontinuous variations are :

    i. blood groupii. fingerprintiii. ability to roll the tonguesiv. ear lobev. left-handednessvi. presence of dimples

    discontinuous variation can be shown by a bar chart

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    number of

    students

    body weight

    number ofstudents

    blood groupsA B AB O

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    Factors that cause variation.

    there are 2 factors which cause variation :

    genetic factor

    environmental factor

    Importance of variation.1. Variations which exist among the same species are important for the

    formation of new species. Besides this, variations enable us to distinguishindividuals in the same species.

    2. Variations enable newly produced species to adapt themselves better toany changes in the environment.

    3. In plants, features of variation like resistance to pathogens, enable theplants to grow rapidly and reproduce quickly.

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