BAB III.

Genetika Kromosom

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Struktur dan Bentuk Kromosom

Kromosom: gen
Protein ---- histon
Gen: urutan tertentu dari asam deoksiribonukleat (DNA) yang
menentukan pembentukan protein, diantaranya enzim dan dapat
diwariskan ---- fungsi protein??? (minimal 5)
Genom:
Himpunan gen yang lengkap yang dimiliki oleh suatu organisma
dalam mengendalikan seluruh proses metabolisma dalam suatu
organisme sehingga dapat hidup sempurna
Jumlah gen dalam genom berbeda untuk setiap organisma yang
berlainan.

Pregnancy Loss and

Chromosome Testing
for Miscarriages

Types of chromosome aberrations

in human lymphocytes.

Sex Determination
Asexual organism are those for which no evidence of
sexual reproduction is known.
Organism which has alternate between short periods
of sexual production and prolonged period of sexual
reproduction.
In diploid eukaryote organism, sexual reproduction is the
only natural mechanism resulting in new members of
species.
Multicellular origanisms has
primary sexual differentiation: only gonads to
produce gametes
secondary sexual differentiation : involves other
organs, such as mammary glands and external
genitalia.

euchromatic regions that contain functional genes and

heterochomatic region that lack genes
Pseudoautosomal Region(PAR) is;
- homology with region on the X chromosome ,
- synapse and recombine with it (X) during
meiosis,
- critical to the segregation of the X and Y
chromosomes during male gametogenesis.
Non Recombining Region of the Y (NRY) called as
male-specific region of the Y (MSY).
Sex-Determined Region Y (SRY) is critical genes that
control male sexual development

In plants and animal

unisexual, dioecious, and gonochoric are
equivalent ----; individual containing only
male or female reproductive organs.
bisexual, monoecious, and hermaphroditic
refer ----- individual containing both male and
female reproductive organs. This later group
of organisms can produce fertile gametes for
both sexes.
intersex ----- individuals of intermediate sexual
differentiation, who are most often steril.

Linkage is the condition where two or

more nonallelic genes tend to be inherited
together. Linked genes have their loci
along the same chromosome; they do not
assort independently but can be
separated by crossing over.

Linkage and Crossing Over

Sex-linked Genes (X-linked genes)

Sex Chromosom in Human and Drosophila: X
and Y
- Sex chromosome X : in female
- Sex chromosome Y : in male
* region of pairing homology with the X
chromosome (synapse and segregate
during meiosis, PAR)
* male-specific region of the Y (MSY)
considered to be relatively inert
genetically.

X-Linked in Human
genes present on the X chromosome exhibit unique patterns
of inheritance in comparison with autosomal genes.
A. Hemofilia:
- Suffers from bleeding because of slow clotting blood.
The recessive gene (h), links to the sex chromosome-X
- All male offspring from a mother with hemophilia will
suffer from hemophilia because they inherit one sex
chromosome-X from their mother.
- female offspring are not necessarily to be hemophilia
because the allele may be heterozygous Hh, except if
the father is also hemophilia.

B. Collor Blindness
The allele for color blindness c (recessive) is linked to the sex
chromosome-X
Most of the sufferer of color blindness is male.

Condition

Characteristics

Color blindness
type:
a. deutan type

Insensitivity to green light

b. protan type

Insensitivity to red light

Fabry disease

Deficiency of galactosidase A: Heart and kidney defects, early death.

G-6-PD deficiency

Deficiency of glucose-6-phosphate dehydrogenase, severe anemic reaction

following intake of primaquines in drugs and certain foods, including fava beans.

Hemophilia A

Classical form of clothing deficiency, absence of clothing factor VIII

Hemophilia B

Christmas disease, absence of clothing factor IX

Hunter Syndrome

Mucopolarysaccharide storage disease resulting from iduronate sulfatase enzyme

deficiency, short stature, clawlike fingers, coarse facial features, slow mental
deterioration, and deafness.

Ichtyosis

Deficiency of steroid sulfatase enzyme, scaly dry skin, particularly on extremities.

Lesch-Nyhan
Syndrom

Deficiency of hypoxanthine-guanine phosphorybosyl transferase enxyme (HGPRT)

leading to motor and mental retardation, self mutilation, and early death.

Duchene Muscular
Dysstrophy

Progressive, life-shortening disorder characterized by muscle degeneration and

weakness, sometimes associated with mental retardation, absence of protein
dystrophin.

X-linked in Drosophila

Thomas H Morgan
White eyes (mutant, recessive) vs. red eye (wild-type, dominant)

mutant

wild-type

Crossing Over
Linked genes have their loci along the same
chromosome; they do not assort independently
but can be separated by crossing over.
Crossing over is the exchange of chromosomal
material (parts of chromosomal arms) between
homolog chromosomes by breakage and
reunion.
The exchange of material between nonsister
chromatids during meiosis is the basis of genetic
recombination.

During the first meiotic prophase, when homolog are

paired or synapsed, a reciprocal exchange of
chromosome segments can take place. This crossing
over result in the reshuffling, or recombination, of the
alleles between homolog and always occurs during the
tetrad stage.

17.3-plant_cell_division.mov

Linkage Ratio
Drosophila
bw+
bw
hv+
hv

= red eyes, wild type, dominant

= brown eyes, mutant, recessive
= thin vein, wild type, dominant
= heavy vein, mutant, recessive

Crossover Linkage
y = yellow body, mutant,
recessive
y+ = grey body, wild type,
dominant
w = white eyes, mutant,
recessive
+
w = red eyes, wild type, d
ominant
m = miniature wing, mutant,
recessive
+
m = normal wing, mutant,
dominant

Phenotype progeny F2
1) yellow - white
0,5 %
2) white - miniature 34,5 %
3) yellow - miniature 35,4 %

w
0,5

34,5
35,4

Single Crossover
Crossover can occur between two sister or nonsister chromatids and between two-genes that are
linked or not linked to each other.
between two sister chromatids or between not linked
genes ---- No recombinant gamete produced
between two non-sister chromatids and linked genes ---Recombinant gamete produced.
The ratio of the recombinant chromosome and
parental chromosomes produced = 1 : 1.

50% of the potential gametes

formed are recombinant

Multiple Crossover
In one tetrad are more than 2 crossovers (CO).
Frequency CO among linked genes is highly
affected by the distance among genes.
For example:
recombinant gametes of single crossover (SCO)
between gene A and gene B = 20%
between gene B and gene C = 30%
Therefore, double crossover (DCO)
between gene A and gene C is
(0,20) x (0,30) = 6% (0,06).
So the probability DCO < SCO

Pemetaan kromosom

2 hipotesis yang diajukan morgan tentang pindah

silang.
1. Gen-gen dalam suatu organisme tersusun
secara linier sepanjang kromosom.
2. Frekuensi turunan yang menunjukkan fenotip
rekombinan/pindah silang dapat digunakan
untuk menentukan letak relatif gen-gen terpaut
di dalam satu kromosom.

Contoh: alel sifat menurun (inheritance) bentuk dan warna

sayap yang diamati pada persilangan Drosophila adalah
sebagai berikut:
B = sayap kelabu
V = sayap panjang
b = sayap hitam
v = sayap kisut

Persilangan drosophila dengan sifat sifat :

Betina
Jantan
Sayap kelabu panjang
x
Sayap hitam kisut
(BBVV)
(bbvv)
F1 :
Semua betina bersayap hitam dan kisut (bbvv)
Semua jantan bersayap kelabu panjang (B-V-)

F2 : hasil persilangan antara turunan F1

komposisi turunan(filial) F2
Fenotip warna dan
Bentuk Sayap

Genotip

Jumlah
(ekor)

Tipe

kelabu dan panjang

B-V-

822

parental

kelabu dan kisut

B-vv

130

rekombinan

hitam dan panjang

bbV-

161

rekombinan

hitam dan kisut

bbvv

652

parental

Jumlah

1765

Sturtevant dan pemetaan kromosom

Temuan dan hipotesis morgan digunakan Sturtevant untuk
membuat 2 hipotesis dalam menentukan jarak antar gen.
1. jarak antara gen-gen yang terpaut dalam satu
kromosom.
2. Distribusi linier gen sepanjang kromosom dapat
digunakan sebagai dasar untuk menentukan peta
kromosom
Kesimpulan:
* Frekuensi pindah silang gen kecil ---- jarak antar gen-gen
terpaut dekat
* Frekuensi pindah silang gen besar ---- jarak antar gen-gen
terpaut jauh

 Frekuensi pindah silang (PS) = nilai pindah silang (NPS)

NPS = turunan tipe rekombinan
turunan
Jadi berdasarkan data hasil persilangan di atas
maka :
NPS = 130 + 161/ 1765 = 16.15%
Jarak antara alel untuk bentuk dan warna sayap dalam
kromosom adalah16.5 unit

Tiga titik dalam pemetaan kromosom

Drosophila
1. Pindah silang antar gen-gen yang berdampingan baru bisa
berlangsung bila jarak antara gen tersebut > 5 unit peta
2. Bila jarak antara 2 gen yang berdekatan sangat besar, misal 17 unit,
maka diantara dua gen tersebut dapat terjadi multipel pindah silang.
Multiple pindah silang selalu memberikan hasil yang berbeda pada
turunannya karena selalu terbentuk turunan tipe rekombinan bila terjadi
diantara lebih dari 2 gen yang berdampingan (lebih dari 2 titik). Jadi
minimal harus terjadi pada 3 titik peta (3 point mapping) dengan syaratsyarat sbb.
1. Genotip organisme harus heterozygot pada seluruh lokus yang
diamati
2. Harus dapat melakukan persilangan antara organisme-organisme
untuk menghasilkan jumlah keturunan yang banyak

Contoh : dilakukan persilangan Drosiphila untuk mengamati

sifat warna badan serta bentuk sayap dan mata dengan
alel-alel sebagai berikut:
y= badan kuning, mutan, resesif
y+ = badan kelabu, wild type, dominan
ec = mata kasar, mutan, resesif
ec+ = mata normal, wild type, resesif
ct
= sayap pendek, mutan, resesif
ct+ = sayap normal, wild type, dominan
Parental:

Betina
+ + +
+ + +

Jantan
y ec ct
y ec ct

F1 :

F2 :

semua turunan berbadan kuning, bermata normal, bersayap

normal
+ + +
y ec ct
Jumlahantara turunan F1 diperoleh hasil
Dari
hasil persilangan
Genotip
Tipe Pindah Silang
(ekor)
komposisi turunan (filial) sebagai berikut :
+ + +

1080

parental

y ec ct

1071

parental

y++

78

pindah silang tunggal

+ ec ct

66

pindah silang tunggal

y ec +

282

pindah silang tunggal

+ + ct

293

pindah silang tunggal

y + ct

pindah silang tunggal

+ ec +

pindah silang tunggal

Jumlah

2280

Penentuan urutan gen dalam kromosom

Urutan susunan gen dalam kromosom di atas akan ditentukan
berdasarkan jaraknya Dengan cara perhitungan sbb.
NPS ganda antara y ec
NPS ganda antara ec ct
NPS ganda antara y ct

= 78 + 66 + 4 + 6/2280 x 100% = 5,4%

= 282 + 293 + 4 +6/2280 x 100% =
20,3%
= 78 + 66 + 282 + 293/2280 x 100% =
24,9%

Jadi urutan dan jarak antar gen yang mungkin adalah

y------ --ec-------------------------ct
5,4
20,3
y----------------24,9---------------ct

Interferensi dan koinsidansi (I)

Interferensi adalah pengurangan jumlah pindah silang yang
terjadi diantara gen-gen yang terletak bersisian satu sama
lain pada suatu kromosom. Besarnya nilai I ditentukan
dengan rumus:
I = 1- C, C = koofisien koinsiden
C=

DCOe
DCOo
C

PS yang terlihat (DCOo)

PS yang tidak terlihat (DCOe)
=
=
=
=

(NPS y-ec)(NPS ec-ct) = 0,054 x 0,203

0,011 = 1,1%
4 +6/2280 = 0,034 = 0,34%
0,34/1.1 = 0,31%

Jadi hanya 0,31 % pindah silang ganda yang diharapkan

terjadi antara gen y ct.
Dari perhitungan diatas maka nilai I yang diperoleh adalah
I = 1 0,31 = 0,69
Bila I = 0, tidak terjadi multiple pindah silang (DCO)
I = 1, DCOe > DCOo
I 0, DCOe > DCOo
I 0, DCOe < DCOo