April 2014 RETNO DWI WULANDARI

Gregor Johann Mendel (1882-1884)

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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
 Gregor Johann Mendel (“Father of Genetics“)
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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 dari
orang tua ke anak

 Hereditas (Heredity) – pewarisan sifat dari

orang tua  anak

 Genetika – mempelajari hereditas

 Percobaan Mendel dengan Kacang Polong
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F1: Cross 2 Hybrids

Cross 2 P:
Results in all get F2:
Pure Plants
(tall) Hybrids 3 Tall & 1 Short
(Tall x short)

Tall  dominant trait

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 Eight Pea Plant Traits

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 Mendel’s Experimental Results

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Istilah-istilah penting
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 :
 Homosigot (Homozygous) genotype –
kombinasi gen yang terdiri dari 2 gen dominan
atau 2 gen resesif (mis. DD or dd)  ‘pure ’

 Heterosigot (Heterozygous )genotype –

kombinasi gen : 1 alel dominant & 1 recessive
(Dd)  hybrid
 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
 Seed Shape cross (homozygous)
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 Alleles: A – Round a – Wrinkled

 Cross: Round seeds x Wrinkled seeds
AA x aa

a a Genotype: Aa
Phenotype: Round
A Aa Aa Genotypic
Ratio: All alike (100%)
A Aa Aa Phenotypic
Ratio: All alike (100%)
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 F1 Monohybrid Cross untuk genotip
heterozygote
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 Trait: Seed Shape
 Alleles: A – Round a – Wrinkled
 Cross: Round seeds x Round seeds
 Aa x Aa

A a Genotype: AA, Aa, aa

Phenotype: Round &
A AA Aa wrinkled
Ratio genotip : 1:2:1
a Aa aa Ratio fenotip : 3:1
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 Monohybrid Cross

 Trait: Seed colour

 Alleles: B – Brown b – White
 Cross: Brown seeds x Brown seeds
 BB x Bb

B b Genotype: BB, Bb
Phenotype: Brown
B BB Bb
Genotypic
Ratio: 1:1
B BB Bb Phenotypic
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Ratio: All alike
 Monohybrid Cross
(heterosigot x homosigot)
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 Trait: Seed Shape

 Alleles: R – Round r – Wrinkled
 Cross: Wrinkled seeds x Round seeds
rr x Rr
R r Genotype: Rr, rr
Phenotype: Round &
r Rr rr Wrinkled
Genotype Ratio: 1:1

r Rr rr PhenotypeRatio: 1:1

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cmassengale
 Mendel’s Principles (laws) of inheritance
1. 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.
Applying the Law of Segregation
 Applying the Law of Segregation

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 2. Law of Independent Assortment
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 Alleles for different traits are distributed

to 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
 Dihybrid Cross (RrYy x RrYy)
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RY Ry rY ry

RY RRYY RRYy RrYY RrYy

Alleles: R round
Ry RRYy r wrinkled
RRyy RrYy Rryy Y yellow
y green

rY RrYY RrYy rrYY rrYy

ry RrYy Rryy rrYy rryy

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 3. Law of dominance
 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-MM atau bunga putih-mm), maka
perkawinan MM x mm akan menghasilkan
keturunan bunga warna merah-Mm. Bunga merah
(Mm) seolah-olah hanya memiliki sifat dari salah
satu induk, meskipun mewarisi gen dari kedua
induknya
 Dominant & Recessive Alleles
 Dominant: produces the same phenotype
whether 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 if

it is paired with the same allele
rr code for white flower
Dominant & Recessive Alleles
 Summary of
PARENT
Mendel’s laws
LAW OFFSPRING
CROSS
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DOMINANCE TT x tt 100% Tt
tall x short tall

Tt x Tt 75% tall
SEGREGATION
tall x tall 25% short

9/16 round seeds & green

RrGg x RrGg pods
INDEPENDENT 3/16 round seeds & yellow
round & green pods
ASSORTMENT
x 3/16
pods
wrinkled seeds & green

round & green 1/16 wrinkled seeds & yellow

pods

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 genetic pedigree
Unaffected female:
Affected female:
Unaffected male:
Affected male:
I
1 2

II
1 2 3 4 5

III
1 2 3 4 5
 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
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
curly hair straight hair
right handed left handed
hair on fingers hairless fingers
Autosomal recessive
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
 Autosomal recessive

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

 Cystic Fibrosis (CF) :

Caused by recessive allele on chromosome 7
 Variations on Mendel’s 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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 Blood has both Multiple Alleles
and 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
 Codominant
 Examples of Blood type crosses
 Multiple Alleles

 Blood type in humans is an example of this

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

A, B, and O O OO only
 Multiple Alleles
 Examples of Blood type crosses
Incomplete dominance
P GENERATION

Red White
RR rr

Gametes R r

 an offspring’s
phenotype is F1 GENERATION Pink
Rr

intermediate
between the 1/
2 R 1/
2 r

phenotypes of its 1/ R 1/ R
parents
Eggs 2 2 Sperm
Red
1/ r 1/ r
2 RR 2

Pink Pink
F2 GENERATION
Rr rR
White
rr

Figure 9.12A
Incomplete dominance in human hypercholesterolemia

GENOTYPES:
HH Hh hh
Homozygous Heterozygous Homozygous
for ability to make for inability to
LDL receptors make
LDL receptors
LDL

LDL
receptor

Cell

Normal Mild disease Severe disease

Figure 9.12B
PHENOTYPES:
A single gene may affect many phenotypes:
pleiotropy
 Polygenic Traits
 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 Traits
 polygenic traits, which means
These are called ___________
many genes”.
“having _______
 eye color,
In humans, _____
 skin color,
_____
 Polygenic Traits
 polygenic traits, which means
These are called ___________
many genes”.
“having _______
 eye color,
In humans, _____
 skin color,
_____
 and _____
hair color
 Polygenic Traits

polygenic traits, which means
These are called ___________
many genes”.
“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
Polygenic Traits
 Sometimes the combination of the different genes
results in continuous __________ of these traits.
 variation
The combined size of all
the ______ parts from
head body
to foot, determines
the _______ of the person.
height
What is Sex Linkage?
 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.
 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 as
sex linked recessives than females.
 Examples: Colour blindness
Haemophilia
X-linked recessive traits ditulis dengan Xa
 X-linked Dominant Inheritance
 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

X – linked dominant pedigree

male affected

female
affected
 X-linked Dominant Inheritance
 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.
Y-linked pedigree
 Y-linked Inheritance

 All of the sons of an affected male will display this

Y-linked trait.

Hairy ears