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    RETNO DWI WULANDARI

    pril 2014

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    Gregor Johann Mendel (1882-1884)

    Biarawan Austrian1856 1863:membudidayakan dan

    melakukan percobaan28,000 kacang polong (Pisumsativum)Pola pewarisan sifat pada

    tanaman tsb : tanaman anakmewarisi sifat tanamaninduk

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    The laws of inheritance

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    Gregor Johann Mendel (Father of Genetics)

    Mendel : sifat yg diwariskan particles

    particles were actually Chromosomes & DNA

    Mendel's work was not recognized until the

    turn of the 20th century

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    Istilah-istilah penting :

    Sifat (Trait)karakter yang diwariskan dariorang tua ke anak

    Hereditas (Heredity)pewarisan sifat dariorang tua anak

    Genetikamempelajari hereditas

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    Percobaan Mendel dengan Kacang Polong

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    Cross 2 P:

    Pure Plants

    (Tall x short)

    F1:

    Results in all

    (tall) Hybrids

    Cross 2 Hybrids

    get F2:

    3 Tall & 1 Short

    Tall dominant trait

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    Eight Pea Plant Traits

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    Mendels Experimental Results

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    Istilah penting

    Alel (allele) dua bentuk gen (dominan &resesif)

    Dominan gen yg lebih kuat , berekspresi

    pada hybrid; ditulis huruf besar (R) Resesif (Recessive)gene that shows up less

    often in a cross; ditulis huruf kecil (r) Genotip (Genotype) kombinasi gen untuk

    suatu sifat (mis. RR, Rr, rr) Fenotip (Phenotype) - tampilan fisik dari

    suatu genotip (mis. Bunga warna red, white)

    Istilah-istilah penting :

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    Homosigot (Homozygous)genotype

    kombinasi gen yang terdiri dari 2 gen dominan

    atau 2 gen resesif(mis. DDordd)

    pure

    Heterosigot (Heterozygous)genotype

    kombinasi gen : 1 alel dominant & 1 recessive

    (Dd) hybrid

    Istilah-istilah penting :

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    Types of Genetic Crosses

    Monohybrid cross perkawinan (cross ) yg

    melibatkan 1 sifat (single trait),mis. Warna bunga

    Dihybrid cross-melibatkan 2 sifat , mis. flower

    color plant height

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    Alleles: A

    Round a

    Wrinkled

    Cross: Roundseeds x Wrinkled seeds

    AA x aa

    A

    A

    aa

    Aa

    AaAa

    Aa

    Genotype:Aa

    Phenotype:Round

    Genotypic

    Ratio: All alike (100 )

    Phenotypic

    Ratio:All alike (100 )

    Seed Shape cross (homozygous)

    b d k

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    F1Mono ybrid Cross untuk genotipheterozygote

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    Trait: Seed Shape

    Alleles: ARound aWrinkled

    Cross: Roundseeds x Round seeds

    Aa x Aa

    A

    a

    aA

    AA

    aaAa

    Aa

    Genotype:AA, Aa, aa

    Phenotype:Round &

    wrinkled

    Ratio genotip : 1:2:1

    Ratio fenotip : 3:1

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    Monohybrid Cross

    copyright cmassengale

    Trait: Seed colour Alleles: BBrown bWhite Cross: Brownseeds x Brown seeds BB x Bb

    B

    B

    bB

    BB

    BbBB

    Bb

    Genotype:BB, Bb

    Phenotype:Brown

    GenotypicRatio: 1:1

    PhenotypicRatio:All alike

    b d

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    Mono ybrid Cross(heterosigot x homosigot)

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    Trait: Seed Shape

    Alleles: R

    Round r

    Wrinkled

    Cross: Wrinkledseeds x Round seeds

    rr x Rr

    r

    r

    rR

    Rr

    rrRr

    rr

    Genotype:Rr, rr

    Phenotype:Round &

    Wrinkled

    Genotype Ratio: 1:1

    PhenotypeRatio:1:1

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    Mendels Principles (laws) of inheritance

    1.

    Law of segregation or purity of gametes.

    At formation of gametes, the two chromosomes ofeach pair separate (segregate) into two different cell

    which form the gametes.

    Each gamete receives one member of a pair offactors and the gametes are pure.

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    Applying the Law of Segregation

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    Applying the Law of Segregation

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    2. Law of Independent Assortment

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    Alleles for differenttraits are distributedto sex cells (& offspring) independently of

    one another.Alel untuk sifat berbeda didistribusikan ke sel seks (gamet)secara indpendent satu dengan yang lain

    This law can be illustrated using dihybrid

    crosses.

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    Dihybrid Cross

    Traits: Seed shape & Seed color

    Alleles: R round

    r wrinkled

    Y yellow

    y green

    RrYy x RrYy

    RY Ry rY ry

    RY Ry rY ry

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    Dihybrid Cross (RrYy x RrYy)

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    RY Ry rY ry

    RY

    Ry

    rY

    ry

    RRYY RRYy RrYY

    RrYyRrYY

    rryyrrYyRryyRrYy

    RRYy RRyy RrYy Rryy

    RrYy

    rrYyrrYY

    Alleles: R round

    r wrinkled

    Y yellow

    y green

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    3. Law of dominance

    Hybrid offspring have visibly the character of onlyone parent or the other, though they transmit

    those of both parents.

    Sepasang gen yang mengendalikan karakter /sifatyang sama (misal warna bunga), tetapi kontras(bunga merah-MM atau bunga putih-mm), makaperkawinan MM x mm akan menghasilkanketurunan bunga warna merah-Mm. Bunga merah(Mm) seolah-olah hanya memiliki sifat dari salahsatu induk, meskipun mewarisi gen dari keduainduknya

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    Dominant & Recessive Alleles

    Dominant: produces the same phenotypewhether it is paired with same or different allele

    R is dominant to r therefore RR or Rr has the

    same phenotype (exp. Red flower)

    Recessive: produces the same phenotype only ifit is paired with the same allele

    rr code for white flower

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    Dominant & Recessive Alleles

    f

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    Summary of Mendels laws

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    LAWPARENTCROSS

    OFFSPRING

    DOMINANCE TT x tttall x short

    100% Tttall

    SEGREGATIONTt x Tttall x tall

    75% tall25% short

    INDEPENDENTASSORTMENT

    RrGg x RrGg

    round & greenxround & green

    9/16 round seeds & greenpods3/16 round seeds & yellow

    pods3/16 wrinkled seeds & greenpods1/16 wrinkled seeds & yellowpods

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    genetic pedigree

    Unaffected female:Affected female:Unaffected male:

    Affected male:

    1 2

    1 2 3 4 5

    1 2 3 4 5

    I

    II

    III

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    Autosomal dominant pedigree

    Trait is found in every generation Affected individuals transmit the trait to ~1/2 of their

    children (regardless of sex) Affected children have at least one affected parent Two affected parents can produce an unaffected child

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    Autosomal dominant traits

    There are few

    autosomal dominanthuman diseases (why?),but some rare traitshave this inheritance

    pattern

    ex. achondroplasia (a sketelaldisorder causing dwarfism)

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    Dominant Recessive

    dimples no dimples

    unattached ear lobes attached ear lobes

    Roman nose straight nose

    rolling tongue into a U non-rolling tonguecurved thumb straight thumb

    curly hair straight hair

    right handed left handed

    hair on fingers hairless fingers

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    Autosomal recessiveAutosomal recessive

    1. Affected childrencan have unaffectedparents

    2. Both males andfemales are affectedwith equal frequency

    3. Heterozygotes havea normal phenotype

    4. Two affected parentswill always haveaffected children

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    Autosomal recessive

    Albinism (a) : Lack of pigment in skin, hair, and eyes

    Cystic Fibrosis (CF) :

    Caused by recessive allele on chromosome 7

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    Variations on Mendels Principles

    Codominance, multiple alleles Incomplete dominance Pleiotropy Polygenic traits Sex-linked genes

    Environmental effects

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    Codominance

    and

    Incomplete dominance

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    Bl d h b th M lti l All l

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    Blood has both Multiple Allelesand is CoDominant

    Codominant:

    when neither of two alleles dominate the other

    blood type: A is dominant over O

    B is dominant over O

    therefore, O is recessive

    A and B are codominant

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    Codominant

    Examples of Blood type crosses

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    Multiple Alleles

    Blood type in humans is an example of this

    inheritance pattern.

    The ______different

    blood groups:

    A, B, O, and AB

    Are produced

    by ______different

    alleles:

    A, B, and O

    Phenotype Genotype

    A AA or AO

    B BB or BO

    AB AB only

    O OO only

    four

    three

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    Multiple Alleles

    Examples of Blood type crosses

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    Incomplete dominance

    an offsprings

    phenotype isintermediatebetween thephenotypes of itsparents

    P GENERATION

    F1GENERATION

    F2GENERATION

    RedRR

    Gametes R r

    Whiterr

    PinkRr

    R r

    R R

    r r

    1/21/2

    1/2

    1/21/2

    1/2SpermEggs

    PinkRr

    PinkrR

    Whiter r

    RedRR

    Figure 9.12A

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    Incomplete dominance in human hypercholesterolemia

    Figure 9.12B

    GENOTYPES:

    HH

    Homozygous

    for ability to make

    LDL receptors

    Hh

    Heterozygous

    hh

    Homozygous

    for inability to

    make

    LDL receptors

    PHENOTYPES:

    LDL

    LDL

    receptor

    Cell

    Normal Mild disease Severe disease

    A singl g n ma aff t man ph n t p s

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    A single gene may affect many phenotypes:

    pleiotropy

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    Polygenic Traits

    Traits controlled by two or more genes

    Show a widerange ofphenotypes

    The phenotype

    is produced by

    the interaction

    of more than

    ________

    of genes.

    1 pair

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    Polygenic Traits

    These are called ___________ traits, which means

    having _______ genes

    In humans, _____ color,

    _____ color,

    polygenic

    many

    skin

    eye

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    Polygenic Traits

    These are called ___________ traits, which means

    having _______ genes

    In humans, _____ color,

    _____ color,

    and _____ color

    polygenic

    many

    skin

    eye

    hair

    http://custombeautyproducts.com/wp-content/uploads/2007/08/082107-hair-color-examples.jpghttp://custombeautyproducts.com/wp-content/uploads/2007/08/082107-hair-color-examples.jpghttp://custombeautyproducts.com/wp-content/uploads/2007/08/082107-hair-color-examples.jpghttp://custombeautyproducts.com/wp-content/uploads/2007/08/082107-hair-color-examples.jpghttp://custombeautyproducts.com/wp-content/uploads/2007/08/082107-hair-color-examples.jpg
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    Polygenic Traits

    These are called ___________ traits, which means

    having _______ genes

    In humans, _____ color,

    _____ color,

    and _____ color

    are just a few of

    the many traits

    __________ by

    many genes.

    polygenic

    many

    skin

    controlled

    eye

    hair

    http://custombeautyproducts.com/wp-content/uploads/2007/08/082107-hair-color-examples.jpghttp://custombeautyproducts.com/wp-content/uploads/2007/08/082107-hair-color-examples.jpghttp://custombeautyproducts.com/wp-content/uploads/2007/08/082107-hair-color-examples.jpg
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    Polygenic Traits

    Sometimes the combination of the different genes

    results in continuous__________of these traits.

    The combined size of all

    the______parts fromhead to foot, determines

    the_______of the person.

    variation

    body

    height

    James Bond Height Chart

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    What is Sex Linkage?

    Selain menetukan jenis kelamin, kromosom seksmemiliki gen-gen untuk beberapa karakter.

    Gen-gen yang terletak pada kromosom seks dsebut: sex linked genes.

    X-linked characters: gen terletak pada kromosom X Seorang ayah mewariskan X-linked alleles ke anak2

    perempuan, tetapi tidak pada anak laki2

    Seorang ibu dapat mewariskan

    sex-linked alleles

    ke

    anak laki2 maupun perempuan.

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    X-linked Recessive alleles

    If a sex linked trait is due to a recessive allele: A female will express the phenotype only if she is

    homozygous recessive. If a male receives the recessive allele from his mother he

    will express the phenotype.

    Far more males have disorders that are inherited assex linked recessives than females.

    Examples: Colour blindnessHaemophilia

    X-linkedrecessive

    traits ditulis dengan Xa

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    X-linkedDominantInheritance

    Sifat X-linked dominant disebabkan adanya aleldominan pada kromosom X.

    Tidak seperti X-linked recessive traits, female dan

    male keduanya membutuhkan SATU alel dominanuntuk mengekspresikan sifat tsb.

    X-linked dominanttraits ditulis dengan XA

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    X linked dominantpedigree

    male affected

    female

    affected

    l h

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    X-linked Dominant Inheritance

    Example: Faulty Tooth Enamel and DentalDiscoloration

    Individuals who have an X chromosome thatcarries a dominant allele for this trait will havedental discoloration.

    l

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    Y-linked pedigree

    l h

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    Y-linked Inheritance

    All of the sons of an affected male will display thisY-linked trait.

    Hairy ears

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