MINGGU KE

GENETIKA DASAR POKOK BAHASAN

(1) (2)
1 Sejarah, Pengertian dan istilah-istilah dalam genetika (gen,alel,lokus,dominan,resesif,
homosigot,heterosigot, genotip, fenotip, parental filial,galur,
kromosom,genom,gamet,haploid,diploid)
2 Proses mitosis dan meiosis, Distribusi gen dalam meiosis, Gametogenesis, dan Daur hidup
tanaman
3 Bahan genetik. Pengertian DNA, RNA. Central dogma, Struktur dan bentuk kromosom,
4 Dasar Mendel : Segregasi dan pengelompokan bebas (monohibrid,dihibrid dan polihibrid)
5 Penghitungan rasio genotip fenotip : metode punet, matematik, peluang, percabangan.
Pendugaan pola pewarisan melalui Uji X2
6 Mempelajari interaksi Intra- alel : kodominan, dominan, letal, alel ganda
7 Interaksi Inter- alel : Epistasis dan hipostasis, pleiotropi, gen modifier, penetrasi dan
ekspresivitas
8 UTS (Ujian Tengah Semester)
9 Pengertian pautan : Pautan sempurna dan pautan tidak sempurna, coupling dan repulsion
10 Pindah Silang : rekombinasi, pindah silang tunggal dan pindah silang ganda
11 Penentuan letak gen pada kromosom, menentukan jarak peta antar gen, Interferensi, dan
Koefisien koinsidensi, pemetaan kromosom
12 Pengertian poligenik, pendugaan jumlah gen, alel efektif dan non-efektif
13 Genetika kelamin
14 Pewarisan sitoplasmik, mandul jantan
15 Dasar-dasar genetika populasi: pengertian, keseimbangan Hardy-Weinberg, ‘gene pool’,
frekuensi gen, frekuensi genotipe
16 UAS (Ujian Akhir Semester)
 POKOK BAHASAN 3

1. Pautan Gen
2. Pindah Silang
3. Pemetaan Kromosom
 Pautan Gen (Linkage gene)
• Deviation From Independent Assortment Ratios
• Pautan/Berangkai/Linkage gene :
Peristiwa beberapa gen bukan alel terdapat pada satu kromosom yang sama

• Pautan/Berangkai/Linkage gene :
- RANGKAI/PAUTAN SEMPURNA
 Gen-gen yang terangkai letaknya amat berdekatan, maka selama meiosis
gen-gen itu tidak mengalami perubahan letak. Sehingga gen-gen itu
bersama-sama menuju ke gamet

- RANGKAI/PAUTAN TIDAK SEMPURNA

 Gen-gen yang terangkai pada satu kromosom letaknya tidak berdekatan
satu sama lainnya, sehingga gen-gen itu dapat mengalami perubahan
letak yang disebabkan karena ada penukaran segmen dari kromatid-
kromatid pada sepasang kromosom homolog
• Bateson and Punnett crossed a purple, long snapdragon with
one that was red and round
• The F1 snapdragon was selfed
• Observed deviation from a 9:3:3:1 ratio
Approximate
Number of number of
Phenotype individuals individuals
(genotype) Observed Expected
(from 9:3:3:1)
Purple, long 284 215
(P_L_)
Purple, round 21 71
(P_ll)
Red, long 21 71
(ppL_)
Red, round 55 24
(ppll)

Because the parental genes seemed to

assort together more then they were
expected, Bateson and Punnett said they
were coupled
 “Crossing” is
mating
Crossing Peas

Controlled
breeding, with
specific
characters
scored for
specific traits
(e.g., character
= flower color,
trait = purple vs.
white)
First Generation Offspring

First filial generation

Dihybrid Cross (2 loci, 2 alleles)
 9:3:3:1 ratio that is dependent on:
• Two loci, two alleles per locus
• Independent assortment between loci (genotypic independence)
• Dominance-recessive relationships between the alleles found at
each locus
• One locus does not affect the phenotype of the other locus
(phenotypic independence)

3:1 ratios are all

over this
Dihybrid Cross Dihybrids
Segregation of Alleles
 Creating a Linkage Hypothesis

• Morgan used Drosophila as an experimental

organism to prove linkage
• Morgan crossed Drosophila red eye, normal wing (pr+pr+
vg+vg+) and purple eye vestigal wing (prpr vgvg)
• The F1 flies were test crossed
• Observed deviation from the 1:1:1:1 ratio
Coupling Cross Chi-Square Test
F1 Observed Expected
(o-e)2 / e
Gamete (o) (e)

pr+ vg+ 1339 709.75 557.9

pr+ vg 151 709.75 439.9
pr vg+ 154 709.75 435.2
pr vg 1195 709.75 331.8
Total 2839   2839 X2=1764.8
 Proof That Linked Genes Exist
Morgan hypothesized that alleles of two genes close
together may not assort indepentently into gametes

Parental arrangements may appear together in

gametes
• Morgan performed a second cross to prove the hypothesis
• He crossed red eye, vestigal wing (pr+pr+ vgvg) and purple
eye, normal wing flies (prpr vg+vg+)
• The F1 flies were testcrossed

Parent : pr+pr+ vgvg x prpr vg+vg+

(red eye, vestigal wing) (purple eye, normal wing)

F1 : pr+pr vgvg+ x testcross

 Repulsion Cross Chi-Square Test
F1 Gamete Observed Expected (o-e)2 / e
pr+ vg+   157   583.75 312.0
pr+ vg   965   583.75 249.0
pr vg+ 1067   583.75 483.3
pr vg   146   583.75 328.3
Total 2335 2335 X2=1372.6
 Tabel Kemungkinan
dB 0.95 0.90 0.70 0.50 0.30 0.20 0.10 0.05 0.01 0.001

1 0.00 0.02 0.15 0.46 1.07 1.64 2.71 3.84 6.64 10.83
2 0.10 0.21 0.71 1.39 2.41 3.22 4.61 5.99 9.21 13.82
3 0.35 0.58 1.42 2.37 3.67 4.64 6.25 7.82 11.35 16.27
4 0.71 1.06 2.20 3.36 4.88 5.99 7.78 9.49 13.28 18.47
5 1.15 1.61 3.00 4.35 6.06 7.29 9.24 11.07 15.09 20.52
6 1.64 2.20 3.83 5.35 7.23 8.56 10.65 12.59 16.81 22.46

menerima menolak
pada taraf 0.05
• Ketentuan :

χ2h < χ2t  non signifikan = tidak berbeda nyata, hipotesis diterima

2 2
 Terms Used in Linkage Analysis
Coupling – the F1 configuration where both dominant alleles reside on the
same chromosome; also called CIS
 gen-gen dominan terangkai pada satu kromosom, sedangkan alel-alel
resesifnya terangkai pada kromosom homolognya
Penulisannya : AB/ab atau AB
ab

Repulsion - the F1 configuration where one dominant and one recessive allele
reside on the same chromosome; also called TRANS
 Gen dominan terangkai dengan alel resesifnya pada satu kromosom,
sedangkan alel-alel resesifnya terangkai pada kromosom homolognya
Penulisannya : Ab/aB atau Ab
aB
Coupling – the F1 configuration where both dominant alleles
reside on the same chromosome; also called CIS

The Development Of The Coupling Chromosome

 Repulsion - the F1 configuration where one dominant and one
recessive allele reside on the same chromosome; also called TRANS

The Development Of The Repulsion Chromosome

End of 9th lecture

Thank you
Crossing Over

PINDAH SILANG
 Crossing Over
• Physical crossing over is a normal meiosis event
• Crossing-over  pertukaran segmen dari kromatid-
kromatid bukan non-sister kromatid dari sepasang
kromosom homolog
• The term used to describe crossing over is
recombination
• Recombination can occur between any two genes on a
chromosome
• The farther apart the two genes the more crossing over
• Recombination Occurs Less Frequently Between Closely
Linked Genes
Cross over
A B A B
meiosis I

a b
a b

A B A B gamet parental
A b gamet rekombinasi
a B gamet rekombinasi
a b a b gamet parental
 Faktor-faktor yang mempengaruhi pindah silang
1. TEMPERATUR, temperatur kurang atau melebihi temperatur biasa
dapat memperbesar kemungkinan pindah silang
2. UMUR, makin tua suatu individu makin kurang mengalami pindah
silang
3. ZAT KIMIA tertentu dapat memperbesar kemungkinan terjadinya
pindah silang
4. PENYINARAN SINAR X dapat memperbesar kemungkinan pindah silang
5. JARAK ANTAR GEN YANG TERANGKAI, makin jauh letak satu gen
dengan gen lainnya, makin besar kemungkinan pindah silang
6. JENIS KELAMIN, umumnya jantan atau betina dapat mengalami pindah
silang. Namun pada ulat sutera betina dan Drosophila jantan tidak
pernah terjadi pindah silang
End of 10th lecture

Thank you
MAPPING CHROMOSOME

PEMETAAN KROMOSOM
 Determining Linkage Distances
• By definition, one map unit is equal to one percent
recombinant gametes or phenotypes
• In honor of Morgan, one map unit is also called one
centimorgan (cM)
1 mu = 1% = 1 cM

To determine the distance between two genes, divide the

number of recombinant gametes by the total number of gametes

Formula :
Number of recombinants x 100%
Total Number
Coupling (Cis) Data Repulsion (Trans) Data
F1 Testcross Gamete F1 Testcross Gamete
Gamete Distribution Type Gamete Distribution Type

pr+ vg+ 1339 Parental Recombi-

pr+ vg+   157
nant
Recombi-
pr+ vg   151 pr+ vg   965 Parental
nant
Recombi-
pr vg+   154 pr vg+ 1067 Parental
nant
Recombi-
pr vg 1195 Parental pr vg   146
nant

Total 2839 Total 2335

pr vg distance pr vg distance
= ((151 +154)/2839)*100% = ((157 + 146)/2335)*100%
= 10.7 m.u = 10.7 cM = 13.0 mu = 13.0 cM

pr vg pr vg
10,7 cM 13.0 cM
 Deriving Linkage Distance And Gene Order
From Three-Point Crosses
• Analyzing three genes allows us to determine gene order as well as linkage
distance
• Need to create a F1 and follow deviation from a 1:1:1:1:1:1:1:1 ratio
• What are the expected gametes when three linked genes are considered?
 Analyzing Three-Point Test Cross Data
Genotype Observed  What are the parental
ABC    390 genotypes?
abc    374
AbC     27
aBC     30  What is the gene
ABc    5 order?
abC    8
Abc     81
 What are the linkage
aBC     85
Total 1000
distances?
 Analyzing Three-Point Test Cross Data
• The genotypes most frequently found are the parental
genotypes
• ABC and abc are the parental genotypes

• The double crossover moves a non-parental allele of the

central gene between two parental alleles
• Gene C is between genes A and B (gene order = A C B)
 Analyzing Three-Point Test Cross Data
Genotype Observed Type of Gamete

ACB    390 Parental

*Jarak A - C
acb    374 Parental
Single-crossover = ((81+85+5+8)/1000)*100
ACb     27 between genes C
and B
= 17.9 cM
Single-crossover *Jarak C - B
aCB     30 between genes C
and B = ((27+30+5+8)/1000)*100
AcB    5 Double-crossover = 7.0 cM
aCb    8 Double-crossover
Single-crossover
Acb     81 between genes A A C B
and C
17,9 cM 7,0 cM
Single-crossover
aCB     85 between genes A
and C
Total 1000
 MENGHITUNG JARAK PETA DAN
FREKUENSI REKOMBINASI
• Menghitung jarak antar gen dengan menggunakan
percobaan Bateson dan Punnett
 menggunakan frekuensi rekombinasi dari metode
uji silang (testcross)
Parental : PL/PL x pl/pl
(Purple, long) (red, round)

F1 : PL/pl x testcross (ppll)

(purple, long) (red,round)

Progeny : Purple, long (P_L_) 284

Red, round (ppll) 55
Purple, round (P_ll) 21
Red, long (ppL_) 21
total 100
 Rekombinasi dari F1 x F1
• Data dari Bateson dan
Punnett F1 x F1 (coupling)
F1 : PL/pl x PL/pl
(Purple, long) (Purple, long)
F2 :
Purple, long (P_L_) : (a1)
Purple, round (P_ll)
: (a2)
Red, long (ppL_) : (a3)
Red, round (ppll) : (a4)
• Data dari Bateson dan Punnett
F1 x F1 (repulsion)
F1 : Pl/pL x Pl/pL
(Purple, long) (Purple, long)
F2 :
Purple, long (P_L_) : (a1)
Purple, round (P_ll): (a2)
Red, long (ppL_) : (a3)
Red, round (ppll) : (a4)
 • Rumus menghitung persentase rekombinasi
apabila F1 heterosigot
Z = Hasil kali tipe rekombinan
Hasil kali tipe tetua

Sehingga apabila F1 heterosigot dalam keadaan :

* Coupling  Z = a2 x a3
a1 x a4

* Repulsion  Z = a1 x a4
a2 x a3
 Rumus menghitung persentase rekombinasi
apabila F1 heterosigot
• Data dari Bateson dan Punnett • Data dari Bateson dan Punnett
F1 x F1 (coupling) F1 x F1 (repulsion)
F1 : PL/pl x PL/pl
F1 : Pl/pL x Pl/pL
(Purple, long) (Purple, long)
(Purple, long) (Purple, long)
F2 : F2 :
Purple, long (P_L_): 269 (a1) Purple, long (P_L_) : (a1)
Purple, round (P_ll): 19 (a2) Purple, round (P_ll): (a2)
Red, long (ppL_) : 27 (a3) Red, long (ppL_) : (a3)
Red, round (ppll) : 85 (a4)
Red, round (ppll) : (a4)
• Coupling  Z = 19 x 27 = 0,0238
269 x 85 Hitung nilai Z!
Nilai Z = 0,0238**
Tabel distribusi Z
Break for a moment

Any Question ?
 Interference &
coefficient of coincidence
• Interference - the reduction in the expected number of
crossovers at two adjacent genetic intervals
• Interferensi – interaksi antar pindah silang
 Pindah silang pada tempat tertentu mengurangi kemungkinan
terjadinya pindah silang pada daerah didekatnya.
 Pindah silang di daerah I mengurangi terjadinya pindah silang pada
daerah II, mengakibatkan frekuensi pindah silang ganda lebih kecil dari
yang diharapkan
• coefficient of coincidence(c.o.c.) = ratio of observed to expected
double crossovers
• Koefisien koinsidensi adalah ukuran dari kekuatan interferensi
dan merupakan nisbah antara frekuensi pindah silang ganda yang
diamati dan frekuensi pindah silang ganda yang diharapkan
 atau
KK = Banyaknya pindah silang ganda (DCO) yang sesungguhnya
Banyaknya pindah silang ganda (DCO) yang diharapkan

I = Interferensi = 1 – KK

• Apabila interferensi sempurna (1,0) maka tidak ada pindah silang ganda yang
dapat diamati

• Apabila semua pindah silang ganda yang diharapkan dapat diamati maka
interferensinya nol (0)
 Creighton and McClintock's Proof of Chromosomal
Exchange During Crossing Over

They used corn chromosome 9 markers:

• c = colorless seed
• wx = waxy endosperm

They created a heterozygote with the following characteristics:

• repulsion configuration of genetic markers
• cytological landmarks on both ends of one chromosome

They performed a testcross to this stock and

analyzed the results.
 If crossing over involves exchange of chromosomal material each
recombinant chromosome would have on of the cytological landmarks. This
is the result they obtained.  See the figure below.
End of 11th lecture

Thank you