Principles of Inheritance and Variations

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    Biology Project Work

    TOPIC Principles Of Inheritance And Variations

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    Topics Mendel and the process of science

    Mendels principles of inheritance Crosses: Parental, F1, F2, and test

    Chromosome mapping

    Variations on Mendelian inheritance

    In-breeding and out-breeding

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    Breeders knew of hybrids at the time that Mendel started his

    experiments (in 1856), but only knew that progeny resembledeach parent, and that some resembled grandparents. No oneknew why.

    Mendel developed a systematic way of understandingheredity, using very good scientific technique.

    He applied the scientific method combined with mathematical

    analysis to demonstrate:1. Unit characteristics2. Segregation of those characteristics

    3. Dominance of some characteristics

    4. Independent assortment of characteristics

    What Did Mendel Show?

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    Mendel Carefully Chose His Organism Pisum sativum: the garden pea

    1. Very productive: produces many peas (large N: good statistics)

    2. Short life cycle: produce many generations in a short time3. Typically self-pollinating: good for inbreeding4. Easily cross-pollinated due to flower structure

    Has 7 distinct phenotypic characteristics:1. Yellow versus green seeds

    2. Round versus wrinkled seeds3. Green versus yellow pods4. Tall versus short plants5. Fat versus tight pods

    6. White versus grey seed coats7.

    Flowers: end o stem versus alon the len th o stem

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    The Pea Flower The flower is well-suited to this study, which required

    controlled pollination

    Protects the reproductive apparatus Male (anther: makes pollen)

    Female (ovary: makes ova)

    Stigma arises from the ovary

    Good for inbreeding and artificial breeding

    Can bag flowers, easily cut off the anthers toprevent further pollination

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    One of Mendels Crosses Mendel knew nothing of the chemical basis

    for inheritance

    He had to work very carefully andexamine ONLY the outward appearance ofthe plants

    He compared what we call today thephenotype,which is the outwardexpression of the genes

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    A Parental Cross Homozygous Tall (TT) X

    Homozygous Short (tt)

    All of the F1generation aretall.

    Demonstrates the concept ofdominance

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    Cross of F1 Cross the F1 generationat randomto

    itself.

    1/4 of F2 (the progeny of theF1 cross)

    are short Mendel showed that the short plant bred

    true, so it was aparental type.

    That a parental phenotype disappeared

    and then reappeared destroys the conceptof blending.

    It was masked in the F1 Instead, it supports the concept of unit

    characteristicsgenes, as we nowunderstand them

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    Segregation of Characteristics Mendel recognized that the only way to achieve the masking of

    the characteristics was to segregate (separate) them somehow inthe gametes.

    The characters must have been separated during formation of thepollen (male) and the ova (female).

    This is the concept of segregation.

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    Chromosomal Basis of Segregation Segregation occurs in meiosis

    at Metaphase I and then at

    Metaphase IIAs a result, the ova or sperm

    contribute different homologouschromosomes to the progeny

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    Mendels Concepts & Modern Terminology Mendel worked in a strictly conceptual framework he had NO IDEA of

    the nature of the genetic material

    Today we know his characters are the products of genes. The collection ofgenes is the genotype, or genome.

    A gene is positioned at a given locus(loci, plural).

    Position is very important, it can define the effect of a gene

    Regulation of genes is position-dependent.

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    Alleles Different varieties of genes are calledalleles.

    Since diploid (2n) organisms have 2 sets of chromosomes, thereare two possible alleles for each gene locus in a 2n organism.

    If those alleles are the same, the organism is homozygousat thatlocation

    If different, it is heterozygous

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    Homozygotes & Heterozygotes We indicate the genotype by the letters:

    Dominant alleles are represented by

    capital letters Recessive alleles are represented by lowercase letters

    Examples:

    TT is homozygous dominant

    Phenotype is dominant

    tt is homozygous recessive

    Phenotype is recessive

    Tt is heterozygous

    Phenotype is dominant

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    Homologs & Alleles 2n organisms have a chromosome received from

    each parent.

    Called homologous chromosomes These have alleles of A, B, C & D.

    A & a, B & b, C & c, D & d

    C is NOT an allele to D; nor is A

    or B A locusis a physical location of DNA that

    encodes for a protein product; i.e. agene

    A, B, C & D are at specific loci

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    Diploid cells

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    Homologous and Non homologous Chromosomes: Definitions

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    A Test Cross What if you only know that

    you have a black and a

    brown guinea pig (i.e. youdont know the genotype)?

    Do a test cross

    Cross with a known true-

    breeding recessive brownguinea pig

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    Test Crosses: Mechanism On inspection, heterozygotes are

    indistinguishable from homozygotedominants.

    Phenotypes can be tested for genotype withtest crosses

    Test crosses are easily checked w/ Punnettsquares.

    Always cross the unknown into homozygous

    recessive to reveal the dominant genotype. The distribution of alleles follows the

    product law and the sum law.

    A

    A

    a a

    Aa

    Aa

    Aa

    Aa

    A

    a

    a

    Aa

    aa

    Aa

    aa

    a

    All A phenotype: Homozygous A

    A phenotype; a phenotype

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    Mapping Chromosomes If there is 8% crossover

    between A & C, 5%crossover between A & B,and 3% between B and C,we can arrange them inthis manner (a):

    If the crossover between Aand C was 2% instead of8%, we could rearrange as

    in (b).

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    Incomplete Dominance

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    Inbreeding Inbreeding was useful to Mendel for producing true-breeders

    But it can concentrate undesirable attributes, which are often recessive.

    Human inbreeding tends to increase the frequency of rare geneticdisorders, although the Tamil of India extensively intermarry with littleor no ill effect.

    Australian sheepdogs must be euthanized if they are white puppies: they

    become blind, deaf, and have many skeletal muscle problems The English bulldog has significant bone structure problems many

    members of this breed can barely mate and bear puppies, and many havedifficulty breathing

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    Outbreeding Outbreedingmeans breeding of different strains or stocks of the same organism

    Breeding to different strains tends to produce more robust individuals, referred to as hybridvigor

    Produces individuals that are multiply heterozygous at many loci Masks recessives in many different traits

    In many cases, multiple heterozygosis seems to confer additional advantage beyond the maskingof recessive traits. This is referred to as over dominanceor the Heterozygote Advantage.

    Most modern grain crops are multiple hybrids: they are more resistant to disease, tolerate

    changes in weather, etc. A simple example: Sickle Cell Anemia

    People heterozygous for sickle-cell anemia have a distinct advantage in Africa, where thetrait improves resistance to malaria by interfering with the parasite life cycle.

    The moderate illness due to the heterozygote sickle cell condition is not severely disabling.

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    Thank YouForWatching

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