Mendelian Genetics

Ganies Riza Aristya,S.Si.,M.Sc.

 Inheritance: What Darwin and his
contemporaries didnt know?

1) Understood sperm
and egg
2) Understood
similarities
between parents
and offspring
3) Blending or mixing
inheritance was
considered the
main mechanism
What genetic principles account for the
transmission of traits from parents to offspring?
One possible explanation of heredity is a
blending hypothesis
The idea that genetic material contributed by two
parents mixes in a manner analogous to the way
blue and yellow paints blend to make green

An alternative to the blending model is the

particulate hypothesis of inheritance: the
gene idea
Parents pass on discrete heritable units, genes
Gregor Mendel (1822-1884)
Father of Genetics
Wrote Experiments
with Plant Hybrids in
1865
Mendels Law of
Segregation
Mendels Law of
Independent
Assortment
Work rediscovered in
1900
Gregor Mendel
Documented a particulate mechanism of
inheritance through his experiments with
garden peas
 Map of Czech Republic

Central Europea Olomouc and Brunn Square Park

City office Prague bridge Prague river

Seminary in Brunn Cathedral in Brunn

Mendel Statue
Pisum sativum experiments
 Mendels Experimental,
Quantitative Approach
Mendel chose to work with peas
Because they are available in many varieties
Because he could strictly control which plants mated
with which
Mendel used the scientific approach to identify two
laws of inheritance
Mendel discovered the basic principles of heredity
By breeding garden peas in carefully planned
experiments
 Mendels pea phenotypes

Phenotype observable appearance of a given genotype in

an organism
Crossing pea plants
1 Removed stamens
from purple flower
APPLICATION By crossing (mating) two 2 Transferred sperm-
true-breeding varieties of an organism, bearing pollen from
scientists can study patterns of stamens of white
flower to egg-
inheritance. In this example, Mendel bearing carpel of
crossed pea plants that varied in flower purple flower
color.
Parental
generation
(P)
Stamens
Carpel (male)
TECHNIQUE (female)
3 Pollinated carpel
matured into pod

RESULTS
4 Planted seeds
When pollen from a white flower fertilizes from pod
eggs of a purple flower, the first-generation
hybrids all have purple flowers. The result is 5 Examined
offspring:
the same for the reciprocal cross, the transfer First
all purple
generation
of pollen from purple flowers to white flowers. offspring
flowers
(F1)
Mendel mulai dari menyilangkan tanaman dengan 1 sifat beda

Hasilnya
Sampel Dominan Resesif Rasio
7.324 biji 5.474 bulat 1.850 keriput 2.96 : 1
8.023 biji 6.022 kuning 2.001 hijau 3.01 : 1
929 tanaman 705 bunga ungu 224 bunga putih 3.15 : 1
580 tanaman 428 polong hijau 152 polong kuning 2.82 : 1
KESIMPULAN
1. Sifat dikontrol oleh faktor yang menurun
2. Setiap individu memiliki sepasang faktor (kecuali pada
sel reproduktif)
3. Faktor diteruskan (segregasi) ke keturunan melalui
sel reproduktif (mendapat 1 faktor dari pasangan faktor)
4. Pada fertilisasi tiap faktor memiliki peluang yang sama untuk
berpasangan
GEN
ALEL

Faktor yang mengendalikan/gen genotipe

Karakter yang terlihat yang dikontrol oleh gen fenotipe

5. Versi alternatif gen (alel-alel yang berbeda) menjelaskan
adanya variasi karakter yang diwarisi. Versi alternatif dari gen
disebut alel.
6. Jika kedua alel berbeda, maka salah satunya alel dominan
diekspresikan sepenuhnya dalam penampakan organisme,
alel yang satunya alel resesif.
Mendel discovered
A ratio of about three to one, purple to white
flowers, in the F2 generation

EXPERIMENT True-breeding purple-flowered pea

plants and white-flowered pea plants were P Generation x
crossed (symbolized by x). The resulting F 1
(true-breeding
hybrids were allowed to self-pollinate or were parents) Purple White
cross-pollinated with other F1 hybrids. Flower flowers flowers

color was then observed in the F 2 generation.

F1 Generation
RESULTS Both purple-flowered plants and (hybrids)
white-flowered plants appeared in the F2
All plants had
generation. In Mendels experiment, 705 purple flowers
plants had purple flowers, and 224 had white
flowers, a ratio of about 3 purple : 1 white.
F2 Generation
One
example:
Round and
wrinkled
seeds
Mendel reasoned that
In the F1 plants, only the purple flower factor was
affecting flower color in these hybrids
Purple flower color was dominant, and white
flower color was recessive
Mendel developed a hypothesis
To explain the 3:1 inheritance pattern that he
observed among the F2 offspring
Four related concepts make up this model
First, alternative versions of genes
Account for variations in inherited characters,
which are now called alleles

Allele for purple flowers

Homologous
Locus for flower-color gene pair of
chromosomes

Allele for white flowers

Second, for each character
An organism inherits two alleles, one from each
parent
A genetic locus is actually represented twice
Third, if the two alleles at a locus differ
Then one, the dominant allele, determines the
organisms appearance
The other allele, the recessive allele, has no
noticeable effect on the organisms appearance
Fourth, the law of segregation
The two alleles for a heritable character separate
(segregate) during gamete formation and end up
in different gametes
 TERMINOLOGI
P : induk/orang tua/parental (berasal dari Bhs. Latin parens)
F : keturunan (berasal dari Bhs. Latin filius)
F1: keturunan pertama
F2: keturunan kedua, dst

Fenotip : karakter suatu individu yang dapat diamati (mis; bentuk, warna,
ukuran) yang merupakan hasil interaksi antara genotip dan lingkungan
Genotip : susunan genetik suatu individu (mis. AA, aa, Aa)

Alel : anggota dari sepasang gen

mis. Gen M menentukan warna merah pada bunga ercis,
alelnya m menentukan warna putih.
Gen K menentukan warna kuning pada biji ercis,
alelnya k menentukan warna hijau

Gen M dan m merupakan sepasang alel, bisa disebut gen M dan alelnya m,
atau alel dominan M dan alel resesif m. Demikian pula gen K dan alelnya k.
Gen M dan K bukan sepasang alel dan disebut dua gen dominan M dan K
Homozigotik : sifat suatu individu yang genotipnya terdiri dari alel-
alel yang sama untuk tiap macam gen (mis. AA, aa, AABB, AAbb,
dsb).

Heterozigotik : sifat suatu individu yang genotipnya terdiri dari alel-

alel yang berbeda untuk tiap macam gen (mis. Aa, AaBb, AaBbCc,
dsb).

Hibrid : hasil perkawinan antara dua individu dengan tanda beda

Aa monohibrid (dengan satu tanda beda)
AaBb dihibrid (dengan dua tanda beda)

Persilangan resiprok : persilangan yang merupakan kebalikan

dari persilangan semula
Pewarisan autosomal hasil keturunannya sama
Pewarisan inti Pewarisan kromosom kelamin hasil keturunannya
berbeda
Pewarisan di luar inti hasil
keturunannya berbeda

Persilangan kembali (Backcross) : persilangan antara hibrid F 1 dengan

induknya yang jantan atau betina
 CONTOH PERSILANGAN RESIPROKAL

RR X
rr
Melon Action
Melon PI 371795 434

F1 (induk PI
371)

rr
X RR
Melon Action
434 Melon PI
371795

F1 (induk
Action)
 Pemuliaan Pedaging
PERKAWINAN RESIPROK/BOLAK-BALIK AYAM PELUNG DAN KEDU

P1 P2 P2 P1

X
X

F1 F1
Does Mendels segregation model account for
the 3:1 ratio he observed in the F2 generation of
his numerous crosses?
We can answer this question using a Punnett
square Each true-breeding plant of the
P Generation
parental generation has identical
alleles, PP or pp.

Appearance: Purple flowers White flowers
Gametes (circles) each contain only
one allele for the flower-color gene.
Genetic makeup: PP pp
In this case, every gamete produced
by one parent has the same allele. Gametes: P p

Union of the parental gametes

produces F1 hybrids having a Pp
F1 Generation
combination. Because the purple-
flower allele is dominant, all
these hybrids have purple flowers. Appearance:
Genetic makeup: Purple flowers
When the hybrid plants produce Pp
gametes, the two alleles segregate,
half the gametes receiving the P
Gametes: 1
/2 P /2
1
p
allele and the other half the p allele.

This box, a Punnett square, shows

F1 sperm
all possible combinations of alleles P p
in offspring that result from an
F1 F1 (Pp Pp) cross. Each square F2 Generation
represents an equally probable product
P
of fertilization. For example, the bottom
PP Pp
left box shows the genetic combination F1 eggs
resulting from a p egg fertilized by
a P sperm. p
Pp pp
Random combination of the gametes
results in the 3:1 ratio that Mendel
observed in the F2 generation. 3 :1
Phenotype versus genotype
Phenotype Genotype

Purple
PP
1
(homozygous)

Pp
3 Purple (heterozygous)

Pp
(heterozygous)
Purple

pp
1 White 1
(homozygous)

Figure 14.6 Ratio 3:1 Ratio 1:2:1

 MENDELS LAW

2 HUKUM :

KUM I : Pemisahan gen yang sealel

(The law of segregation of allelic genes)

KUM II : Pengelompokan gen secara bebas

(The law of independent assortment of genes)
 HUKUM SEGREGASI
(HUKUM MENDEL I)

Padawaktu berlangsung
pembentukan gamet, tiap
pasang gen akan disegregasi ke
dalam masing-masing gamet
yang terbentuk.
 HUKUM PEMILIHAN BEBAS
(HUKUM MENDEL II)
Segregasi suatu pasangan gen tidak
bergantung kepada segregasi
pasangan gen lainnya, sehingga di
dalam gamet-gamet yang terbentuk
akan terjadi pemilihan kombinasi gen-
gen secara bebas.
Persilangan Dihibrid
Persilangan yang melibatkan pola pewarisan dua
macam sifat seketika
ex : Persilangan galur murni Kedelai (Glicyne
max) berbiji kuning halus dengan galur murni
berbiji hijau keriput
The chromosomal basis of Mendels laws
P Generation Yellow-round Green-wrinkled
Starting with two true-breeding pea plants, seeds (YYRR) seeds (yyrr)
we follow two genes through the F 1 and F2 y
Y r
generations. The two genes specify seed
color (allele Y for yellow and allele y for Y R R r
green) and seed shape (allele R for round y
and allele r for wrinkled). These two genes are
on different chromosomes. (Peas have seven
Meiosis
chromosome pairs, but only two pairs are
illustrated here.)
Fertilization
R Y y r
Gametes

All F1 plants produce

yellow-round seeds (YyRr)

R R
F1 Generation y y
r r
Y Y
Meiosis

LAW OF SEGREGATION LAW OF INDEPENDENT ASSORTMENT

R r r R
Two equally
probable
Y y arrangements Y y
of chromosomes
1 Alleles at both loci segregate
at metaphase I
1 The R and r alleles segregate in anaphase I, yielding four
R r r R types of daughter cells
at anaphase I, yielding
two types of daughter depending on the chromosome
cells for this locus. Anaphase I arrangement at metaphase I.
Compare the arrangement of
Y y Y y the R and r alleles in the cells
on the left and right

R r r R
2 Each gamete Metaphase II 2
gets one long Each gamete gets
chromosome Y y a long and a short
y y
with either the chromosome in
R or r allele. one of four allele
combinations.
Y Y Y y
Y Y Y y
Gametes r
R R r r r R R

1 1 yr 1 yr 1
YR yR
4 4 4 4
F2 Generation
Fertilization among the F1 plants
3 Fertilization 3 Fertilization results
recombines the in the 9:3:3:1
R and r alleles 9 :3 phenotypic ratio in
:3 :1
at random. the F2 generation.
P: Kuning, halus x Hijau, keriput
GGWW ggww
Gamet GW gw

F1 : Kuning, halus
GgWw

Menyerbuk sendiri (GgWw x GgWw )

F2 :

Gamet GW Gw gW gw

Gamet
GW GGWW GGWw GgWW GgWw
(Kuning, halus) (Kuning, halus) (Kuning, halus) (Kuning, halus)

Gw GGWw GGww GgWw Ggww

(Kuning, halus) (Kuning, keriput) (Kuning, halus) (Kuning, keriput)
gW GgWW GgWw ggWW ggWw
(Kuning, halus) (Kuning, halus) (Hijau, halus) (Hijau, halus)
gw GgWw Ggww ggWw ggww
(Kuning, halus) (Kuning, keriput) (Hijau, halus) (Hijau, keriput)
Gg x Gg Ww x Ww

3 W- 9 G- W- (kuning, halus)
3 G- 1 ww 3 G- ww (kuning, keriput)
3 W- 3 ggW- (hijau, halus)
1 gg 1 ww 1 ggww (hijau, keriput)
Mendels Law of Segregation
Factors (Alleles) One from Each Parent
Trait
Dominant (T)
Recessive (t, O)
Co-Dominant (A,B; M,N)
Genotypes = Two Alleles for a Trait
(Phenotype)
Homozygous (TT, tt) Taster, non-Taster
Heterozygous (Tt) Taster
Mendelian Segregation: Dominant trait
Segregation example: PTC tasting
Punnett Square
Mendelian Segregation: Recessive Trait
From The New Heredity and You by Amram Scheinfeld (1950)
From The New Heredity and You by Amram Scheinfeld (1950)
Chromosomal mechanisms
underlying Mendels Laws

Independent Assortment
the separation of
different chromosomes
into gamete cells

Segregation the
separation of the sister
chromatids into gamete
cells
Moms gametes (eggs) all have X chromosomes since she only has the X
chromosome
Dads ganetes (sperm) can each have either an X or a Y chromosome
Rumus-rumus yang digunakan dalam Pewarisan Mendel
Banyakny Macam Banyaknya Banyaknya Banyakny Banyaknya Banyaknya
a sifat gamet macam macam a Kombinasi Kombinasi
beda fenotip genotip Kombinasi homozigoti baru yang
k homozigoti
k

Monohibrid 21 = 2 21 = 2 31 = 3 (21)2 = 4 21 = 2 21 2 = 0
Aa x Aa
Dihibrid 22 = 4 22 = 4 32 = 9 (22)2 = 16 22 = 4 2 2 2 = 2
AaBb x
AaBb
Trihibrid 23 = 8 23 = 8 33 = 27 (23)2 = 64 23 = 8 23 2 = 6
AaBbCc
x
AaBbCc
Tetrahibrid 24 = 24 = 16 34 = 81 (24)2 = 256 24 = 16 24 2 =
AaBbCcDd 16 14
x
AaBbCccDd

n 2n 2n 3n (2n)2 2n 2n 2
 Rumus mencari perbandingan fenotip
SEGITIGA PASCAL

1
1 1 Untuk persilangan monohibrid
1 2 1 Untuk persilangan dihibrid
1 3 3 1 Untuk persilangan trihibrid
1 4 6 4 1 Untuk persilangan tetrahibrid
1 5 10 10 5 1 Untuk persilangan pentahibrid

Pada persilangan monohibrid

Pangkat menunjukkan banyaknya tanda beda, lalu berikutnya dikurangi satu
1 x 31 : 1 x 30 Perbandingan fenotip = 3 : 1
angka tetap
angka mengikuti segitiga Pascal 3A :
1a
Pada persilangan dihibrid Perbandingan fenotip = 9 : 3 : 3 : 1
32 : 2 x 31 : 1 x 30 9 A-B- : 3 A-bb : 3 aaB- : 1 aabb
Probability in a monohybrid cross
Can be determined using this rule

Rr Rr

Segregation of Segregation of
alleles into eggs alleles into sperm

Sperm

2
1
R 1
2 r

R R
R r
2
1 R

4
1 4
1

Eggs

r r
R r
2
1
r
1
4 1
4
Contoh: Monohibrid

P Aa x Aa

Gamet A A Banyaknya macam gamet yang dibentuk

a a 21 = 2

F 1 AA warna bunga ungu -A

2 Aa
1 aa warna bunga putih 3:1 (perbandingan
-a
fenotip)

Banyaknya macam genotip Banyaknya macam fenotip

yang dihasilkan 31 = 3 yang dihasilkan 21 = 2
A dihybrid cross
Illustrates the inheritance of two characters
Produces four phenotypes in the F 2 generation

EXPERIMENT Two true-breeding pea plants P Generation YYRR yyrr

one with yellow-round seeds and the other with
green-wrinkled seedswere crossed, producing Gametes YR yr
dihybrid F1 plants. Self-pollination of the F1 dihybrids,
which are heterozygous for both characters,
produced the F2 generation. The two hypotheses F1 Generation YyRr
Hypothesis of Hypothesis of
predict different phenotypic ratios. Note that yellow dependent independent
color (Y) and round shape (R) are dominant. assortment assortment
Sperm
1
4 YR 1
4 Yr 1
4 yR 1
4 yr
Sperm
Eggs
RESULTS 1
2 YR 1
2 yr
1
4 YR
Eggs YYRR YYRr YyRR YyRr
F2 Generation 2 YR YYRR YyRr
1

1
4 Yr
(predicted YYrr YYrr YyRr Yyrr
offspring) 1
2 yr
CONCLUSION The results support the hypothesis of YyRr yyrr 1
4 yR
independent assortment. The alleles for seed color and seed YyRR YyRr yyRR yyRr
3
4 1
4
shape sort into gametes independently of each other. 1
4 yr
Phenotypic ratio 3:1 YyRr Yyrr yyRr yyrr
9
16 3
16 3
16 1
16

Phenotypic ratio 9:3:3:1

Figure 14.8 315 108 101 32 Phenotypic ratio approximately 9:3:3:1

Contoh: Dihibrid
 Y: Warna kulit biji
P YyRr x YyRr kuning R:Biji
Gamet YR YR bulat
Banyaknya macam gamet
yang dibentuk
Yr Yr 22 = 4
yR yR
yr yr
F
1 YYRR 9 Y-R- = Kuning, Bulat
2 YYRr 3 Y-rr = Kuning, keriput
1 YYrr 3 yyR- = Hijau, Bulat
Banyaknya 2 YyRR 1 yyrr = Hijau, keriput
Homozigotik 4 YyRr
22 = 4 2 Yyrr
1 yyRR Banyaknya macam fenotip yang
2 yyRr dihasilkan 22 = 4
1 yyrr Banyaknya
kombinasi (22)2 = 16

Banyaknya macam genotip

yang dihasilkan 32 = 9 Banyaknya kombinasi baru yang
homozigotik 22 2 = 2
yyRR,YYrr
QUIZ 1
Suatu tanaman mempunyai genotip AaBb
saling menyerbuk sendiri, tentukanlah :
a. Macam gamet
b. Banyaknya macam fenotip
c. Banyaknya macam genotip
d. Banyaknya kombinasi
e. Banyaknya kombinasi homozigotik
f. Banyaknya kombinasi baru yang
homozigotik
g. Bagaimana rasio perbandingan fenotipnya
QUIZ 2
Tulislah semua gamet yang berbeda yang
dihasilkan oleh individu-individu berikut :
1. AABBCc
2. aaBbCc
3. AaBbccDd
4. AABbCcddEeFf
Quiz 3
Pada harimau, suatu alel resesif menyebabkan
ketiadaan pigmen bulu (harimau putih) dan
keadaan mata juling. Jika dua harimau
berfenotip normal yang heterozigot pada
lokus ini dikawinkan, berapakah persentase
kuturanan mereka akan bermata juling?
Berapakah persentase yang akan berbulu
putih ?
QUIS 4
A recessive mutant allele, black, causes a
very dark body in Drosophila when
homozygous. The normal wild type color is
described as gray. What F1 phenotypic ratio
is predicted when a black female is crossed
to a gray male whose father was black?
Please explain these results by providing
the genotypes of all individuals
QUIZ 5
Bulu pendek pada kelinci diatur oleh gen
dominan L, sedangkan bulu panjang oleh alel
resesifnya, l. Bulu hitam dihasilkan dari
genotip dominan B_, sedangkan bulu cokelat
dari genotip resesif bb.
a. Pada persilangan antara kelinci dihibrid
berbulu hitam pendek homozigot dan kelinci
homozigot cokelat pendek, berapa rasio
genotip dan fenotip yang diharapkan pada
keturunannya ?
b. Tentukan rasio genotip dan fenotip yang
diharapkan pada keturunan dari hasil
persilangan LlBb x LlBb