Modifications to Mendelian Ratio Key Points • • • • • • • •
Incomplete dominance and codominance Lethal genes Gene interaction Epistasis Polygenic inheritance Linkage Pleiotropy Incomplete expressivity & incomplete penetrance
Modifications to Mendelian Ratio F2 Genotipic Ratio Monohybrid Aa x Aa
Gamet: A
a
Genotype
Frequency
AA
1/4
Aa
1/2
aa
1/4
F2 (Punnett Square) A
a
F2 Phenotipic Ratio
A
AA
Aa
Genotype
Frequency
a
Aa
aa
A_
3/4
aa
1/4
F2 Genotype Frequency AABB
1
AABb
2
AAbb
1
AaBB
2
AaBb
4
Aabb
2
aaBB
1
aaBb
2
aabb
1
Mendelian dihybrid cross AaBb x AaBb Phenotype Frequency A_B_
9
A_b_
3
aaB_
3
aabb
1
Modifications in Monohybrid Cross • Incomplete Dominance • Codominance • Lethal genes
Incomplete Dominance / Codominance Snapdragon flower colour (1:2:1 ratio)
Rr
x
RR 1
Rr
Rr :
2
rr :
1
Lethal Genes (1:2 ratio)
Y, the yellow-lethal mutation in mice: a dominant visible that is also a recessive lethal.
Modifications in Dihybrid Cross • Incomplete Dominance/Codominance – in both pairs of alleles (1 example) – on one pair of alleles (1 example)
• Gene Interaction (2 examples) • Epistasis (5 examples) • Polygenic Inheritance (1 example)
F2 Genotype Frequency AABB
1
AABb
2
AAbb
1
AaBB
2
AaBb
4
Aabb
2
aaBB
1
aaBb
2
aabb
1
Mendelian dihybrid cross AaBb x AaBb Phenotype Frequency A_B_
9
A_bb
3
aaB_
3
aabb
1
Codominance in both pairs
Genotype Phenotype I I
A
A A
II
B
B B
I I
AB
A B
L L M
M
M
L L N N
N
L L M
N
MN
IAIBLMLN x IAIBLMLM
Genotype
Phenotype
Ratio
IAIALMLM
AAMM
1
IAIALMLN
AAMN
2
IAIALNLN
AANN
1
IAIBLMLM
ABMM
2
IAIBLMLN
ABMN
4
IAIBLNLN
ABNN
2
IBIBLMLM
BBMM
1
IBIBLMLN
BBMN2
IBIBLNLN
BBNN
1
Incomplete Dominance in one pair
Ddh1h2 x Ddh1h2
Genotype Phenotype
Genotype
Phenotype
Ratio
DD/DdTinggi
D_ h1h1
Tall, Smooth
3
dd
Dwarf
D_ h1h2
Tall, Sparse
6
h1h1
Smooth
D_ h2h2
Tall, Hairy
3
h1h2
Sparse
dd h1h1
Dwarf, Smooth
1
h2h2
Hairy
dd h1h2
Dwarf, Sparse
2
dd h2h2
Dwarf, Hairy
1
Gene Interaction Chicken Comb Shapes (9:3:3:1 ratio) a. rose, Wyandottes b. pea, Brahmas c. walnut, hybrid d. single, Leghorns
Comb shapes in chickens of different breeds.
RRpp (rose)
rrPP (pea)
X
RrPp (walnut)
9 R_P_ walnut 3 R_pp rose 3 rrP_
pea
1 rrpp
single
Gene Interaction AABB
Pig Coat Colour (9:6:1 ratio) x
red F1
aabb white
AaBb red
F2 9
A_B_ red (interaction between A & B)
3
A_bb sand yellow (because of A)
3
aaB_
sand yellow (because of B)
1
aabb
white (no A or B)
Modifications to Mendelian Ratio Key Points • • • • • • • •
Incomplete dominance and codominance Lethal genes Gene interaction Epistasis Polygenic inheritance Linkage Pleiotropy Incomplete expressivity & incomplete penetrance
Epistasis (recessive) Mice Coat Colour (9:3:4 ratio) CCaa
x
black F1
ccAA albino
CcAa agouti
F2 9
C_A_ agouti (A determines agouti)
3
C_aa
black (a determines black)
3
ccA_
albino (cc epistasis towards A_)
1
ccaa
albino (cc epistasis towards aa)
Epistasis (Dominant) Cucurbita pepo fruit colour (12:3:1 ratio) AABB
x
white F1
aabb green
AaBb white
F2 9
A_B_
3
A_bb
3
aaB_
yellow (B determines yellow)
1
aabb
green (b determines green)
12 white (A epistasis towards B_ and bb)
Epistasis Fowl plumage colour (13:3 ratio) IICC
Leghorn
x
white F1
iicc white
IiCc white
F2 9
I_C_
white (because of inhibitor I)
3
I_cc
white (because of I and cc)
3
iiC_
coloured (C determines colour)
1
iicc
white (cc has no colour)
Wyandotte
Epistasis Corn kernel colour (9:7 ratio) AAcc
x
yellow F1
aaCC yellow
AaCc purple
F2 9
A_C_
purple (A and C present)
3
A_cc
yellow (C absent)
3
aaC_
yellow (A absent)
1
aacc
yellow (A and C absent)
SUBSTRATE X
SUBSTRATE Y
A
A
Enzyme
Gene
ANTOCYANINE
B
B
Epistasis Seed capsules of the shepherd’s purse (15:1 ratio) AABB
x
triangular F1
aabb ovoid
AaBb triangular
F2 9
A_B_
triangular (A and B present)
3
A_bb
triangular (A present)
3
aaB_
triangular (B present)
1
aabb
ovoid (A and B absent)
© 2003 John Wiley and Sons Publishers
Only when both pathways are blocked by homozygous recessive alleles is the triangular phenotype suppressed and an ovoid capsule produced.
A & B completely dominant
9
3
aa epistasis towards B and b
9
3
A epistasis towards B and b
12
3 1 Squash fruit
A epistasis towards B & b; bb epistasis towards A & a
13*
3
aa epistasis towards B and b; bb epistasis towards A & a
9
7
A epistasis towards B & b; B epistasis towards A and a
15
3 1 Mendel’s cross 4
Mice coat colour colour
Fowl plumage colour Corn kernel colour
1 Fowl leg plumage
Polygenic Inheritance
Colour of wheat kernels
(1:4:6:4:1 ratio) Parents:
AABB dark red
F1
x aabb white
AaBb medium red
F2 Genotype
Phenotype
2
AABB
DARK RED
3
AABb, AaBB
MEDIUM DARK RED
4
AAbb, aaBB, AaBb
MEDIUM RED
5
aaBb, Aabb
LIGHT RED
1
aabb
WHITE
Pleiotropy: A condition where changes in one gene can affect more than one phenotype. Example: Phenylketonuria – a disease caused by the deficiency of phenylalanine hydroxylase leading to accumulation of phenylalanine in the plasma. Clinical manifestation includes fair skin, blonde hair,mental retardation, musty odour.
Incomplete Expressivity is seen in cases where the same genotype may, for unknown reasons, have variability in their phenotypes. Example: Genetic diseases such as diabetes. Incomplete Penetrance is seen when an individual with a particular genotype, for unknown reasons, does not express the phenotype.
Modifications to Mendelian Ratio Key Points • • • • • • • •
Incomplete dominance and codominance Lethal genes Gene interaction Epistasis Polygenic inheritance Linkage Pleiotropy Incomplete expressivity & incomplete penetrance
Berikan hukum-hukum Mendel. Terangkan keadaan-keadaan yang akan memberikan keputusan lain daripada keputusan Mendel. State Mendel’s laws. Explain the conditions whereby Mendel’s laws were modified. Times New Roman, font size 12, single spacing Maximum 3 pages (3 x 49 lines) excluding pictures Last date of submission – 2nd August 2006
Population Genetics 1. Hardy-Weinberg’s law. 2. Allele frequency can be obtained in 2 ways: from the population and from Hardy-Weinberg’s formula. 3. At equilibrium, genotype frequencies can be determined by Hardy-Weinberg’s formula. 4. Factors influencing allele and genotype frequency.