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RETNO DWI WULANDARI

APRIL 2012

Biarawan Austrian
1856 1863
:membudidayakan dan
melakukan percobaan
28,000 kacang polong

(Pisum sativum)

Pola pewarisan sifat pada


tanaman tsb : tanaman anak
mewarisi sifat tanaman
induk
The laws of inheritance
copyright cmassengale

Mendel : sifat yg
diwariskan particles
particles were actually
Chromosomes & DNA
Mendel's work was not
recognized until the turn
of the 20th century

copyright cmassengale

Sifat (Trait) karakter yang diwariskan dari


orang tua ke anak
Hereditas (Heredity) pewarisan sifat dari
orang tua anak
Genetika mempelajari hereditas

Cross 2
P:Pure
Plants

F1:

Results in
all Hybrids

Cross 2
Hybrids
get F2:
3 Tall & 1 Short
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Eight Pea Plant Traits

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copyright cmassengale

Mendels Experimental Results

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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)

Monohybrid cross perkawinan (cross ) yg


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

Dihybrid cross - melibatkan 2 sifat , mis.

flower color & plant height

Genotype of alleles:
R = red flower
r = yellow flower

Possible combinations are:

Genotypes

RR

Rr

Phenotypes

RED

RED

rr
YELLOW

Homosigot (Homozygous) genotype


kombinasi gen yang terdiri dari 2 gen
dominan atau 2 gen resesif (mis. RR or rr)
pure

Heterosigot (Heterozygous )genotype


kombinasi gen : 1 alel dominant & 1 recessive
(e.g. Rr) hybrid

Trait: Seed Shape


Alleles: R Round r Wrinkled
Cross: Round seeds x Wrinkled seeds
RR
x
rr
Genotype: Rr

Rr

Rr

Rr

Rr

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Phenotype: Round
Genotypic
Ratio: All alike
Phenotypic
Ratio: All alike
14

Trait: Seed Shape


Alleles: R Round r Wrinkled
Cross: Round seeds x Round seeds
Rr
x
Rr
Genotype: RR, Rr, rr

RR

Rr

Rr

rr

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Phenotype: Round &


wrinkled
Ratio genotip : 1:2:1
Ratio fenotip : 3:1
15

Heterozygous x heterozygous
Offspring:
25% Homozygous dominant RR
50% Heterozygous Rr
25% Homozygous Recessive rr
Offspring called F2 generation

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16

Law of segregation or purity of gametes.


At formation of gametes, the two chromosomes of each
pair separate (segregate) into two different cell which form
the gametes.

Each gamete receives one member of a pair of factors


and the gametes are pure.

copyright cmassengale

18

Alleles for different traits are


distributed to sex cells (& offspring)
independently of one another.
This law can be illustrated using
dihybrid crosses.

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19

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

RY

Ry

rY

ry

RY

RRYY

RRYy

RrYY

RrYy

Ry

RRYy

RRyy

RrYy

Rryy

rY

RrYY

RrYy

rrYY

rrYy

ry

RrYy

Rryy

rrYy

rryy

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21

Hybrid offspring have visibly the character of only


one parent or the other, though they transmit
those of both parents.
Sepasang gen yang mengendalikan karakter /sifat
yang sama (misal warna bunga), tetapi kontras
(bunga merah-M atau bunga putih-m), maka
perkawinan MM x mm akan menghasilkan
keturunan Mm, yaitu bunga warna merah. Bunga
merah seolah-olah hanya memiliki sifat dari salah
satu induk, meskipun mewarisi gen dari kedua
induknya

Dominant: produces the same phenotype


whether it is paired with same or different
allele

Recessive: produces the same phenotype


only if it is paired with the same allele

Suatu gen mengkode/menghasilkan suatu protein.


Alel berbeda pada suatu gen akan :
1. Menghasilkan protein yang berubah/berbeda
2. Jumlah berubah atau gagal membentuk protein
Protein yg dihasilkan dari 1 alel akan lebih kuat daripada
protein yg dihasilkan oleh alel yg lain. Alel yang
menghasilkan protein yg lebih kuat dominan

24 of 37

LAW
DOMINANCE

SEGREGATION

INDEPENDENT
ASSORTMENT

PARENT
CROSS

OFFSPRING

TT x tt
tall x short

100% Tt
tall

Tt x Tt
tall x tall

75% tall
25% short

RrGg x RrGg
round & green
x
round & green

9/16
pods
3/16
pods
3/16
pods
1/16
pods

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round seeds & green


round seeds & yellow

wrinkled seeds & green


wrinkled seeds & yellow
25

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

Autosomal dominant traits


There are few
autosomal dominant
human diseases (why?),
but some rare traits
have this inheritance
pattern

ex. achondroplasia (a sketelal


disorder causing dwarfism)

Dominant

Recessive

dimples

no dimples

unattached ear lobes

attached ear lobes

Roman nose

straight nose

rolling tongue into a U

non-rolling tongue

curved thumb

straight thumb

right handed

left handed

hair on fingers

hairless fingers

Autosomal recessive
1. Affected children
can have unaffected
parents
2. Both males and
females are affected
with equal frequency
3. Heterozygotes have
a normal phenotype
4. Two affected parents
will always have
affected children

Albinism (a) Two individuals with albinism:


Lack of pigment in skin, hair, and eyes

Cystic Fibrosis (CF) :


Caused by recessive allele on chromosome 7

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

alleles

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32

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

Examples of Blood type crosses

In this pattern of inheritance, the genes have


two alleles controlling them
more than _____
and are therefore said to have multiple
two
alleles. No individual has more than _____
two
alleles, but there are more than _____
trait
possible alleles in a population, so a ______
will be expressed in more than two forms.

Blood type in humans is an example of this


inheritance pattern.
Phenotype Genotype
four different
The ______
blood groups:
A
AA or AO
A, B, O, and AB
Are produced
B
BB or BO
three different
by ______
AB
AB only
alleles:
A, B, and O
O
OO only

Examples of Blood type crosses

Blood Groups

Phenotype
(Blood Type

Genotype

Antigen on
Red Blood Cell

Safe Transfusions
From
To

P GENERATION
White
rr

Red
RR
Gametes

an offsprings
phenotype is
intermediate
between the
phenotypes of its
parents

Pink
Rr

F1 GENERATION

1/

1/

Eggs
1/

F2 GENERATION

1/

1/

Red
RR

r
Pink
Rr

Sperm
1/

Pink
rR
White
rr

Figure 9.12A

Incomplete dominance in human


hypercholesterolemia
GENOTYPES:

HH

Hh

Homozygous
for ability to make
LDL receptors

Heterozygous
PHENOTYPES:

hh

Homozygous
for inability to
make
LDL receptors

LDL
LDL
receptor
Cell

Normal
Figure 9.12B

Mild disease

Severe disease

Traits controlled by two or more genes


Show a wide range of phenotypes
The phenotype
is produced by
the interaction
of more than
________
1 pair
of genes.

polygenic
These are called ___________
traits, which
many genes.
means having _______
eye color,
In humans, _____
skin color,
_____

polygenic traits, which


These are called ___________
many genes.
means having _______
eye color,
In humans, _____
skin color,
_____
and _____
hair color

polygenic traits, which


These are called ___________
many genes.
means having _______
eye color,
In humans, _____
skin color,
_____
hair color
and _____
are just a few of
the many traits
__________
controlled by
many genes.

James Bond Height Chart


Sometimes the combination of the
different genes results in continuous
variation of these traits.
__________
The combined size of all
body parts from
the ______
head to foot, determines
height of the person.
the _______

Selain menetukan jenis kelamin, kromosom seks


memiliki 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.

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 as


sex linked recessives than females.
Examples:
Colour blindness
Haemophilia

Unaffected female:
Affected female:
Unaffected male:
Affected male:
I
1

II
1

III
1

Sifat X-linked dominant disebabkan adanya alel


dominan pada kromosom X.

Tidak seperti X-linked recessive traits, female dan


male keduanya membutuhkan SATU alel dominan
untuk mengekspresikan sifat tsb.

X-linked dominant traits ditulis dengan XA

Example: Faulty Tooth Enamel and Dental


Discoloration

Individuals who have an X chromosome that


carries a dominant allele for this trait will
have dental discoloration.

All of the sons of an affected male will


display this Y-linked trait.

Hairy ears