mendel april 2014
TRANSCRIPT
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RETNO DWI WULANDARI
pril 2014
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Gregor Johann Mendel (1882-1884)
Biarawan Austrian1856 1863:membudidayakan dan
melakukan percobaan28,000 kacang polong (Pisumsativum)Pola pewarisan sifat pada
tanaman tsb : tanaman anakmewarisi sifat tanamaninduk
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The laws of inheritance
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Gregor Johann Mendel (Father of Genetics)
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 dariorang tua ke anak
Hereditas (Heredity)pewarisan sifat dariorang tua anak
Genetikamempelajari hereditas
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Percobaan Mendel dengan Kacang Polong
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Cross 2 P:
Pure Plants
(Tall x short)
F1:
Results in all
(tall) Hybrids
Cross 2 Hybrids
get F2:
3 Tall & 1 Short
Tall dominant trait
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Eight Pea Plant Traits
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Mendels Experimental Results
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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 :
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Homosigot (Homozygous)genotype
kombinasi gen yang terdiri dari 2 gen dominan
atau 2 gen resesif(mis. DDordd)
pure
Heterosigot (Heterozygous)genotype
kombinasi gen : 1 alel dominant & 1 recessive
(Dd) hybrid
Istilah-istilah penting :
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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
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Alleles: A
Round a
Wrinkled
Cross: Roundseeds x Wrinkled seeds
AA x aa
A
A
aa
Aa
AaAa
Aa
Genotype:Aa
Phenotype:Round
Genotypic
Ratio: All alike (100 )
Phenotypic
Ratio:All alike (100 )
Seed Shape cross (homozygous)
b d k
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F1Mono ybrid Cross untuk genotipheterozygote
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Trait: Seed Shape
Alleles: ARound aWrinkled
Cross: Roundseeds x Round seeds
Aa x Aa
A
a
aA
AA
aaAa
Aa
Genotype:AA, Aa, aa
Phenotype:Round &
wrinkled
Ratio genotip : 1:2:1
Ratio fenotip : 3:1
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Monohybrid Cross
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Trait: Seed colour Alleles: BBrown bWhite Cross: Brownseeds x Brown seeds BB x Bb
B
B
bB
BB
BbBB
Bb
Genotype:BB, Bb
Phenotype:Brown
GenotypicRatio: 1:1
PhenotypicRatio:All alike
b d
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Mono ybrid Cross(heterosigot x homosigot)
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Trait: Seed Shape
Alleles: R
Round r
Wrinkled
Cross: Wrinkledseeds x Round seeds
rr x Rr
r
r
rR
Rr
rrRr
rr
Genotype:Rr, rr
Phenotype:Round &
Wrinkled
Genotype Ratio: 1:1
PhenotypeRatio:1:1
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Mendels Principles (laws) of inheritance
1.
Law of segregation or purity of gametes.
At formation of gametes, the two chromosomes ofeach pair separate (segregate) into two different cell
which form the gametes.
Each gamete receives one member of a pair offactors and the gametes are pure.
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Applying the Law of Segregation
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Applying the Law of Segregation
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2. Law of Independent Assortment
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Alleles for differenttraits are distributedto 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
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Dihybrid Cross (RrYy x RrYy)
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RY Ry rY ry
RY
Ry
rY
ry
RRYY RRYy RrYY
RrYyRrYY
rryyrrYyRryyRrYy
RRYy RRyy RrYy Rryy
RrYy
rrYyrrYY
Alleles: R round
r wrinkled
Y yellow
y green
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3. Law of dominance
Hybrid offspring have visibly the character of onlyone parent or the other, though they transmit
those of both parents.
Sepasang gen yang mengendalikan karakter /sifatyang sama (misal warna bunga), tetapi kontras(bunga merah-MM atau bunga putih-mm), makaperkawinan MM x mm akan menghasilkanketurunan bunga warna merah-Mm. Bunga merah(Mm) seolah-olah hanya memiliki sifat dari salahsatu induk, meskipun mewarisi gen dari keduainduknya
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Dominant & Recessive Alleles
Dominant: produces the same phenotypewhether 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 ifit is paired with the same allele
rr code for white flower
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Dominant & Recessive Alleles
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Summary of Mendels laws
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LAWPARENTCROSS
OFFSPRING
DOMINANCE TT x tttall x short
100% Tttall
SEGREGATIONTt x Tttall x tall
75% tall25% short
INDEPENDENTASSORTMENT
RrGg x RrGg
round & greenxround & green
9/16 round seeds & greenpods3/16 round seeds & yellow
pods3/16 wrinkled seeds & greenpods1/16 wrinkled seeds & yellowpods
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genetic pedigree
Unaffected female:Affected female:Unaffected male:
Affected male:
1 2
1 2 3 4 5
1 2 3 4 5
I
II
III
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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
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Autosomal dominant traits
There are few
autosomal dominanthuman diseases (why?),but some rare traitshave this inheritance
pattern
ex. achondroplasia (a sketelaldisorder causing dwarfism)
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Dominant Recessive
dimples no dimples
unattached ear lobes attached ear lobes
Roman nose straight nose
rolling tongue into a U non-rolling tonguecurved thumb straight thumb
curly hair straight hair
right handed left handed
hair on fingers hairless fingers
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Autosomal recessiveAutosomal recessive
1. Affected childrencan have unaffectedparents
2. Both males andfemales are affectedwith equal frequency
3. Heterozygotes havea normal phenotype
4. Two affected parentswill always haveaffected children
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Autosomal recessive
Albinism (a) : Lack of pigment in skin, hair, and eyes
Cystic Fibrosis (CF) :
Caused by recessive allele on chromosome 7
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Variations on Mendels 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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Bl d h b th M lti l All l
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Blood has both Multiple Allelesand 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
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Codominant
Examples of Blood type crosses
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Multiple Alleles
Blood type in humans is an example of this
inheritance pattern.
The ______different
blood groups:
A, B, O, and AB
Are produced
by ______different
alleles:
A, B, and O
Phenotype Genotype
A AA or AO
B BB or BO
AB AB only
O OO only
four
three
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Multiple Alleles
Examples of Blood type crosses
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Incomplete dominance
an offsprings
phenotype isintermediatebetween thephenotypes of itsparents
P GENERATION
F1GENERATION
F2GENERATION
RedRR
Gametes R r
Whiterr
PinkRr
R r
R R
r r
1/21/2
1/2
1/21/2
1/2SpermEggs
PinkRr
PinkrR
Whiter r
RedRR
Figure 9.12A
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Incomplete dominance in human hypercholesterolemia
Figure 9.12B
GENOTYPES:
HH
Homozygous
for ability to make
LDL receptors
Hh
Heterozygous
hh
Homozygous
for inability to
make
LDL receptors
PHENOTYPES:
LDL
LDL
receptor
Cell
Normal Mild disease Severe disease
A singl g n ma aff t man ph n t p s
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A single gene may affect many phenotypes:
pleiotropy
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Polygenic Traits
Traits controlled by two or more genes
Show a widerange ofphenotypes
The phenotype
is produced by
the interaction
of more than
________
of genes.
1 pair
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Polygenic Traits
These are called ___________ traits, which means
having _______ genes
In humans, _____ color,
_____ color,
polygenic
many
skin
eye
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Polygenic Traits
These are called ___________ traits, which means
having _______ genes
In humans, _____ color,
_____ color,
and _____ color
polygenic
many
skin
eye
hair
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Polygenic Traits
These are called ___________ traits, which means
having _______ genes
In humans, _____ color,
_____ color,
and _____ color
are just a few of
the many traits
__________ by
many genes.
polygenic
many
skin
controlled
eye
hair
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Polygenic Traits
Sometimes the combination of the different genes
results in continuous__________of these traits.
The combined size of all
the______parts fromhead to foot, determines
the_______of the person.
variation
body
height
James Bond Height Chart
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What is Sex Linkage?
Selain menetukan jenis kelamin, kromosom seksmemiliki 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.
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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 assex linked recessives than females.
Examples: Colour blindnessHaemophilia
X-linkedrecessive
traits ditulis dengan Xa
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X-linkedDominantInheritance
Sifat X-linked dominant disebabkan adanya aleldominan pada kromosom X.
Tidak seperti X-linked recessive traits, female dan
male keduanya membutuhkan SATU alel dominanuntuk mengekspresikan sifat tsb.
X-linked dominanttraits ditulis dengan XA
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X linked dominantpedigree
male affected
female
affected
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X-linked Dominant Inheritance
Example: Faulty Tooth Enamel and DentalDiscoloration
Individuals who have an X chromosome thatcarries a dominant allele for this trait will havedental discoloration.
l
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Y-linked pedigree
l h
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Y-linked Inheritance
All of the sons of an affected male will display thisY-linked trait.
Hairy ears
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