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    Genetics

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    Genetics

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    Genetics

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    © All Rights Reserved
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    of 10

    WHAT IS GENETICS?

    Genetics is the study of heredity i.e., transmission of body features


    (both similarities and differences) from parents to offspring and the
    laws relating to such transmission.

    GREGOR MENDEL - An Austrian Monk and Father of Genetics


    Gregor Mendel (1822 - 84) was born in a peasant family. He had his
    early education in a monastery and later he studied Science and
    Mathematics at University of Vienna. He wanted to be a teacher but
    luck did not favour him, and he failed in the examination of teaching
    certificate.

    "Mendel's laws of inheritance".


    Two modern applications of genetics
    Genetic engineering is the technique in which the genetic
    constitution of an organism (bacterium) is altered by introducing
    new genes into its chromosomes.
    Genetic Counselling - Diseases like haemophilia (bleeder's disease
    with a tendency to bleed freely from even a slight wound),
    thalassaemia and sickle cell anaemia with defective haemoglobin
    are examples of genetic diseases which can be prevented to some
    extent by proper genetic matching of the prospective parents.

    Heredity
    The term heredity may be defined as "transmission of genetically
    based characteristics from parents to offspring", or "the genetic
    constitution of an individual".

    VARIATIONS IN POPULATION
    Human beings as a species share many main characters or traits
    among themselves which identify the species Homo sapiens. Yet,
    the various races or tribes look different in several features. Further,
    within a family, members show differences in body features. These
    small differences among the individuals of the same species are
    called variations.
    CHARACTER AND TRAITS Any inheritable feature of an organism is
    a character. The alternative forms of a character are called traits.
    Ex:- Colour of eye is character Brown or blue is the trait.
    CHROMOSOMES-THE CARRIERS OF HEREDITY
    Photographs of the dividing
    cell nucleus can be taken
    through a high power light
    microscope. These
    photographs are used for
    artificially arranging the
    chromosomes according to
    stheir size and shape on a
    chart (karyotype).

    Chromosome number
    The chromosome number is constant for the individuals of a
    species, and each body cell of that species has the same number of
    chromosomes. Humans have 46 chromosomes.

    Chromosomes in Homologous Pairs


    In each organism, the chromosomes occur in even numbers. This is
    so because they always occur in pairs. The two chromosomes of
    each pair are similar in size and shape and are derived as one each
    from the two parents.

    Homologous chromosomes
    A pair of corresponding chromosomes of the same and size, one
    obtained from each parent.

    THE TWO MAIN CATEGORIES OF CHROMOSOMES AUTOSOMES


    AND SEX CHROMOSOMES
    The chromosome pairs numbered 1-22, has identical chromosomes
    and these are categorised as autosomes. But the 23rd pair is
    different and its chromosomes are called sex chromosomes which
    are designated as X and Y.
    The XX pair with similar partners is found in females whereas the XY
    pair with dissimilar partners is found in males.
    Autosomes are the kind of chromosomes which determine general
    body features like complexion, height, seed colour, etc. Humans
    have 22 pairs of autosomes. While sex chromosomes (also called as
    allosomes) are the kind of chromosomes that determine the sex of
    an organism.

    SEX DETERMINATION --- SON OR


    DAUGHTER

    The sex of the child depends upon


    the kind of sperm that fertilises the
    egg. The egg contains only one X
    chromosome, but half of the sperms
    released into the genital tract of the
    female during coitus are X-bearing and the remaining half are Y-
    bearing.

    CHROMOSOMES --- CARRIERS OF GENES


    The characteristics of species including physical appearance, body
    functions, behaviour, etc., are not simply the outcome of
    chromosome number, but these are the result of the units called
    genes which the chromosomes carry.
    The word "gene" was coined by geneticist Wilhelm Johanssen in
    1909 to simply describe what parents passed to their offspring.

    GENES AND THEIR ALLELES


    The two alternative forms of genes are called the alleles.

    ALLELES: Alternative forms of a


    gene occupying the same position
    (locus) on homologous
    chromosomes and affecting the
    same characteristic but in
    different ways.

    Dominant Allele: The kind of allele which expresses itself regardless


    of the presence of another allele/s for a given gene. e.g. The
    dominant allele for height in garden pea is tall.

    Recessive Allele: The kind of allele whose expression is suppressed


    in presence of a dominant allele for a given gene. A recessive allele
    can only express itself in presence of the same recessive allele. e.g.
    The recessive allele for height in garden pea is drawf.

    GENOTYPE AND PHENOTYPE


    The three situations pertaining to any pair of genes, as for example
    in tongue rolling, can be as follows:
    (i) RR (both dominant) TONGUE ROLLER
    (ii) Rr (one dominant, one recessive) TONGUE ROLLER
    (iii) rr (both recessive) NON-ROLLER

    The genetic constitutions (pertaining to the kinds of genes


    possessed) are called genotype and the expressed shown character
    is called phenotype.
    (i) homozygous dominant, that has similar pair RR (homo: similar,
    zygos: pair)
    (ii) heterozygous dominant with dissimilar pair Rr (hetero: different,
    zygos: pair)

    GENOTYPE AND PHENOTYPE


    Genotype:- The set of genes present in the cells of an organism
    Phenotype:- The observable characteristics which are genetically
    controlled.

    FROM PARENTS TO CHILDREN --- TONGUE ROLLING --- AN


    EXAMPLE OF INHERITANCE- Pedigree Chart.
    Punnett square: It is a simple
    diagram in which the different
    types of gametes (sex cells
    with the concerned trait) of
    one (female) parent are placed
    along one side of the square
    and those of the other parent
    (male) are placed along the
    other side. Then, the possible
    combinations (genotypes) of the opposite gametes are given in the
    sub-squares. The resulting phenotypes can be written under the
    genotypes.

    SEX-LINKED INHERITANCE
    Sex-linked inheritance is the appearance of a trait which is due to
    the presence of an allele exclusively either on the X chromosome or
    on the Y chromosome.

    'X' linked inheritance :


    Certain disorders caused due to heredity such as haemophilia and
    colour-blindness are more common in males than in females. Such
    defects are due to recessive genes, which occur on the 'X'
    chromosome! Colour blindess is an inherited disease due to which
    affected individuals cannot differentiate between certain colours,
    mostly red and green.
    Haemophilia is a genetic disorder in which the sufferers
    (homozygous recessive female and the recessive X-bearing male)
    are at a risk of bleeding to death because the blood fails to clot in
    them. Rare cases of haemophiliac males do occur but practically
    none of haemophiliac females.
    MENDEL'S EXPERIMENTS ON INHERITANCE
    The basic principles of genetics were discovered for the first time by
    Gregor John Mendel in the mid- nineteenth century. Mendel was an
    Austrian monk and he conducted breeding experiments on garden
    pea (Pisum sativum) out of sheer interest. His findings became a
    milestone in biology.

    Mendel had selected garden pea for three reasons:


    1. Many varieties were available in alternative forms of a character.
    2. Varieties were available in pure forms that bred true, i.e. produced
    the same type generation after generation.
    3. Peas are normally self-pollinated but self-pollination could be
    prevented by removing corresponding reproductive parts (male part
    stamens and the female part carpels) of the flower and could as well
    be cross- pollinated artificially.
    ss

    MENDEL'S LAWS OF INHERITANCE


    Mendel's generalizations of the results of breeding experiments are
    summarised under three laws:
    1. Law of Dominance: Out of a pair of contrasting characters present
    together, only one is able to express itself while the other remains
    suppressed. The one that expresses is the dominant character and
    the one unexpressed is the recessive.
    2. Law of Segregation: The two members of a pair of factors
    separate during the formation of gametes. They do not blend but
    segregate or separate into different gametes. The gametes combine
    together by random fusion at the time of zygote formation.
    3. Law of Independent Assortment: When there are two pairs of
    characters, the distribution of the alleles of one character into the
    gametes is independent of the distribution of the alleles of the other
    character.

    Application of Mendel's laws


    (i) A knowledge of the basic Mendelian principles gives us an idea
    about the new combinations in the progeny of hybrids and enables
    us to predict their frequency.
    (ii) Such information is of great importance to both plant and animal
    breeders for producing better breeds.
    (iii) New types of plants with new combinations of useful characters
    can be produced by hybridisation.

    MUTATION
    Mutation is a sudden change in one or more genes, or in the number
    or in the structure of chromosomes.
    Mutation alters the hereditary material of an organism's cells and
    results in a change in certain characters or traits.

    For example:
    (i) Sickle cell anaemia is a blood disease caused by a gene mutation.
    The mutation causes change in the DNA resulting in the production
    of sickle-shaped RBCs.
    (ii) Radioactive radiations also alter the gene structure and their
    effects can be seen generation after generation. An atomic explosion
    which had occurred during World War-II 1945 in Japan (Hiroshima,
    Nagasaki), had led to a number of deformities in the body of plants
    and animals which are still persisting.

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