CHP 6N - Genetic Inheritance

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6.

0 GENETIC
INHERITANCE

6.1 Mendelian Genetics


6.2 Deviations from Mendelian Inheritance
6.2 Genetic Mapping
6.1 MENDELIAN GENETICS
 Terminologies
 Monohybrid cross
 Dihybrid cross
Terminologies
1. Allele
 One of the alternate forms of a gene
 That occupies the same location on homologous chromosome
 Causes different development of the same trait
 Eg: gene for flower colour has 2 forms or alleles; ‘purple’ & ‘white’
2. Alleles – symbols of alleles
2. Gene
 A segment of DNA that act as a unit of
hereditary information
 It codes for specific protein that determines a
specific character
 Eg: gene for flower colour, seed colour and
seed shaped
3. Locus
 A location of a specific gene on a
chromosome
 Alleles of a gene are located at the same locus
on homologous chromosome
4. Genotype
 The genetic constitution of an individual
 With respect to the alleles under
consideration
 The combination of alleles it has for a specific
gene
 Eg: Pp
5. Phenotype

 Observable characteristic of an individual


 Which is determined by its genotype & by the
interaction between genotype & environment
in which development occurs
 Eg: Genotype : Pp Phenotype : Purple flower
6. Homozygous
 A diploid organism which has 2 identical
alleles for a character at a given locus on
homologous chromosome
 Eg: PP – homozygous dominant
 Eg: pp – homozygous recessive
7. Heterozygous
 A diploid organism which has 2 different
alleles for a character at a given locus on
homologous chromosome
 Eg: Pp – heterozygous
8. Dominant
 Alleles which is fully expressed when it is
present ; even in the presence of another
allele
 Has same character; both in homozygous and
heterozygous condition
 Symbol using capital letter (eg: allele P)
 Eg: PP ~ purple flower; Pp ~ purple flower
9. Recessive
 Alleles which express its trait only in the
presence of another identical allele
(homozygous condition)
 Symbol using small letter (eg: allele p)
 Eg: pp ~ white flower
10. Self cross
 A cross between male and female from the same
plants or same generation

11. Test cross


 A cross between a recessive homozygous eg. (tt)
with an organism to determine the genotype eg.
either TT/Tt
 If all the offspring show the dominant
characteristic, the unknown organism is
homozygous (TT)
 But if half show the recessive characteristic (tt),
the unknown organism is heterozygous (Tt)
Character
 A heritable feature that varies
among individuals
 Eg: flower colour & height

Trait
 Each variant for a character of
individuals
 Character : flower colour
 Traits : purple flower, white
flower
 Gregor Mendel was an Austrian monk who
begins to study the inheritance of garden peas
in 1856
 Mendel study genetic inheritance in pea plant
(Pisum sativum) because of 5 reasons :

1)Easy to grow in large numbers


2)Short life cycle
3) Many easily observable characteristics
- 7 characteristics of pea plant
 Mendel study genetic inheritance in pea plant
(Pisum sativum) because:
4) Pollination could be easily controlled
(Has close reproductive structure inside petals)
5) Have both male & female parts (Can be
manipulated; can self pollinate, cross pollinate)
Types of Pollination
1. Self pollination
 Transfer of pollen from anther to the
stigma of the same flower
 or to stigma of another flower of the
same plant

Self fertilization
 Fusion of male & female gamete from the
same individual
2. Cross Pollination
 Transfer of pollen from anther to stigma of a
different plant (same species)
Cross Pollination
 Fusion of male & female gamete from different
individuals
Monohybrid Cross
 Only 1 characteristic is observed
 Eg: flower colour
 Involves crossing between 2 individuals (true
breeding) with different phenotypes:-
 i. purple flower (homozygous dominant, PP)
 ii. white flower (homozygous recessive, pp)
 3 steps of Mendel’s
experiment :
1)Produce P generation
(true breeding)
2)Produce F1 generation
3)Produce F2 generation
 Mendel study traits in
3 generations of pea
plant
True Breed or Pure Breed
 Organisms that are homozygous for the trait under
consideration
 When they are self fertilized, they produce offspring
that has the same phenotype as the parent; generation
after generation
 Consider only 1 specific character, eg: flower colour
 Eg: Pure breed for white flower colour; pp
Step 1 : Produce P generation
(True breeding plants)
 Mendel select plants with 2 varieties (has
different traits)
 Eg: purple flower & white flower plant
 These plants were allowed to self pollinate for
several generations
 Seeds collected from
purple flowered plants
is planted
 Their offspring always
produce purple
flowered plants (and
white produce white)
 These 2 varieties of
true breeding plants is
known as parental or P
generation
Step 2 : Produce F1 generation
 Mendel remove the
stamens from purple
flowered plant
 Pollen from white
flower is transferred to
the stigma of purple
flower (cross fertilized)
 Seeds obtained is
planted
 RESULTS
 All offspring - purple flower
 Offspring is first filial or F1 generation
Step 3 : Produce F2 generation

 F1 generation are self fertilized


 The seeds obtained from F1 generation is
planted
 Produce a second filial or F2 generation
 RESULTS
 Produce:
929 offspring
(F2 generation)

 : 705 purple
 : 224 white
Mendel conduct experiment using
other characteristics
Conclusion of Mendel’s
Experiment
1.Principle of dominance
 Purple flower allele is dominant over white
flower allele
2. Principle of Segregation
 Each characteristic is determined by a factor
(gene) which exist in pairs
 During the formation of gametes, these 2
alleles separate
 Gamete receive only 1 allele from each pair
Mendel’s 1st Law
“Law of Segregation”
 Each characteristic is controlled by 2
factors (alleles) which separate and pass
into different gametes
 Gametes receive only one allele from
each pair
Punnett Square
 A diagram used to show all possible
combination of alleles in gametes produced by
parental generation to predict the possible
genotype of offspring
 All possible male gamete are written
horizontally along the top & all possible female
gamete are written vertically
 The possible combinations of gametes are
written into the grid
Test cross
 A cross between a homozygous recessive individual
with an organism of dominant phenotype but unknown
genotype
 To determine the exact genotype of unknown
genotype
 Prediction :-
 If all offspring show dominant phenotype, genotype of
unknown parent - homozygous dominant
 If half of the offspring show dominant phenotype &
another half offspring show recessive phenotype,
genotype of unknown parent - heterozygous
Monohybrid F1 Test Cross
Summary – Monohybrid Crossing
Dihybrid Cross
 2 characteristics are observed
 Eg: 1) seed colour 2) seed shape
 Involves crossing between 2 individuals (true
breeding) with different phenotypes
i.Yellow round seed (homozygous dominant,YYRR)
ii. Green wrinkle seed (homozygous recessive, yyrr)
Mendel’s Experiment

 3 steps of Mendel’s experiment :


1)Produce P generation (true breeding)
2)Produce F1 generation
3)Produce F2 generation
 Mendel study traits in 3 generations of
pea plant
1.Produce P generation (true breeding
parents)
 yellow round seed (YYRR) and green
wrinkle seed (yyrr)
2.Produce F1 generation
 2 true breeding varieties is cross fertilized
 Results : All F1 offspring have yellow &
round seed
3.Produce F2 generation
 F1 is self fertilized to produce F2
generation
Mendel’s 2nd Law
Law of Independent
Assortment
 By the end of meiosis, genes on pairs of
homologous chromosomes separate
independently to another pairs of
homologous chromosomes
Step 3: Produce F2 generation
Dihybrid Cross
 Observation
 2 phenotypes of F2 are the same as both parents
Yellow round & green wrinkle
 2 other phenotypes had combined characteristics
of both parents
Yellow wrinkle & green round
 For each character, phenotype ratio is still 3:1
ratio
 The ratio of yellow seeds to green seeds is 3:1
 The ratio of round seeds to wrinkle seeds is 3:1
 For both character, phenotype ratio is 9:3:3:1
Conclusion of Mendel’s
Experiment
1.Principle of dominance
 Yellow seed allele is dominant over green seed
allele
 Round seed allele is dominant over wrinkle
seed allele
2. Principle of Independent Assortment
 Each member of a pair of allele may combine
randomly with either of another pair during
the formation of gametes
Dihybrid Test Cross
 The genotype RRYY, RRYy, RrYY and RrYy
all have the phenotype round and yellow. A
test cross can be carried out to determine
the genotype of the plant.
 Eg: If the double heterozygote is crossed
with a double homozygous recessive, a
genotype and phenotype ratio is 1:1:1:1 is
obtained
Dihybrid Test Cross
Test cross :-
Dominant phenotype (F1 : yellow round,YyRr)
Homozygous recessive (green wrinkled, yyrr)
Dihybrid Test Cross
Summary – Dihybrid Crossing
6.2 Deviations from the
Mendelian Inheritance
Codominant Alleles

 A condition when both alleles of a pair are


fully expressed in heterozygous condition
 Heterozygous and homozygous individuals
have different phenotypes
 Eg: MN blood group in human
Codominant Alleles ~ MN
blood group
 Determine by 2 alleles; LM and LN
 LM express antigen M; LN express antigen
N
 LM – allele for antigen M
 LN – allele for antigen N
Incomplete dominance alleles

 A condition when dominant allele does not


completely inhibit the expression of
recessive allele in heterozygous condition
 Phenotype of heterozygous individual is
intermediate of both homozygous dominant
and homozygous recessive phenotypes
 Eg: Antirrhinum sp. (Snapdragon) flower
colour
Incomplete dominance alleles
 Eg. Snapdragon flower colour
 Determine by 2 alleles; CR and CW
 CR express red flower; CW express white flower
 CR – allele for red flower
 CW – allele for white flower
Multiple Alleles

 A condition when one gene which control


the same character has more than 2 alleles
 But at a time, an individual only has a pair of
alleles in a single gene
 The phenotype of an individual is
determined by the combination of 2 alleles
 Eg: ABO blood group in human
Multiple Alleles
Multiple Alleles
Linked Genes

 Genes that are located on the same


chromosome
 They are always inherited together
 Linked genes act as a single unit during
meiosis
 They do not undergo independent
assortment
 Do not obey the Second Mendel’s Law
Linked Genes
 Involves two characteristics determined by two genes
 Eg: in fruit fly, Drosophila sp.

1) Body colour (allelic pair G & g)


 Allele G : dominant allele for grey body
 Allele g : recessive allele for black body

2) Wing size (allelic pair N & n)


 Allele N : dominant allele for normal wing
 Allele n : recessive allele for vestigial wing

 But 2 pairs of alleles located on the same homologous


chromosome
2 characters are
considered
 Eg: in Drosophila
1. Body colour
2. Wing size
 Body colour : grey
@ black
 Wing size : normal
@ vestigial
Differences between dihybrid &
linked genes
Dihybrid

 2 pairs of alleles located on


different homologous
chromosome
 Undergo independent
assortment

Linked genes
 2 pairs of alleles located on
the same homologous
chromosome
 Do not undergo
independent assortment
D i h y b r i d Linked genes
Black
Linked Genes
Linked Genes
Linked Genes Test Cross
Linked Genes

 Linked genes are located on the same


chromosome
 They are always inherited together
 But, linked genes can be separated
during crossing over between non-
sister chromatids of a pair of
homologous chromosome during
meiosis
Linked Genes
Linked Genes With Crossing Over
 When self cross is done on F1 offspring, if
no crossing over occurs, F2 phenotype ratio
is 3:1
 When test cross is done, if no crossing over
occurs, F2 phenotype ratio is 1:1
 When self cross or test cross is done on F1
offspring, if crossing over occurs, there is
NO DEFINITE phenotype ratio for F2
generation
But generally, in F2 generation, there will
be:-
 2 large groups (with nearly equal
numbers) ~ known as parental
phenotypes
 2 small groups (with nearly equal
numbers) ~ known as recombinant
phenotypes
Differences between Mendel’s
ratio and crosses that deviates
from Mendel’s ratio
Linked Genes With Crossing Over
(example)
 In fruit fly, Drosophila melanogaster, a dominant allele for
grey body is controlled by allele G, a recessive allele for
black body is controlled by allele g. Normal wings is
controlled by allele N and recessive allele for vestigial
wings is controlled by allele n.
 Homozygous flies with grey body and normal wings were
crossed with flies with black body and vestigial wings.
Then, F1 progeny were crossed with homozygous
recessive flies. The F2 offspring obtained are as follows:-
Grey body, normal wings : 237
Black body, vestigial wings : 241
Grey body, vestigial wings : 44
Black body, normal wings : 48
 Draw a genetic diagram for the above crossing
Linked Genes With Crossing Over
(example)
 In fruit fly, Drosophila melanogaster, a dominant allele
for grey body is controlled by allele G, a recessive
allele for black body is controlled by allele g. Normal
wings is controlled by allele N and recessive allele
for vestigial wings is controlled by allele n.

 Symbol:-
Dominant allele for grey body : G
Recessive allele for black body : g
Dominant allele for normal wing : N
Recessive allele for vestigial wing : n
Linked Genes With Crossing Over
(example)
 Symbol:-
 Dominant allele for grey body : G
 Recessive allele for black body : g
 Dominant allele for normal wing : N
 Recessive allele for vestigial wing : n

 Homozygous flies with grey body and


normal wings were crossed with flies with
black body and vestigial wings
Homozygous flies with grey body and normal wings were
crossed with flies with black body and vestigial wings.
Then, F1 progeny were crossed with homozygous
recessive flies. The F2 offspring obtained are as follows:-
Linked Genes With Crossing Over
(example)
 The F2 offspring obtained are as follows:-

SUMMARY:
 When there are 4 phenotypes in F2 generation :-
2 large groups (with nearly equal numbers) ~ known as
parental phenotypes
2 small groups (with nearly equal numbers) ~ known as
recombinant phenotypes
 This is linked genes with crossing over
Sex Chromosome
 In most species, sex is determined by
sex chromosomes
 In human: 2 types of sex
chromosomes:-
X chromosome (larger)
Y chromosome (smaller)
 Human have a pair of sex
chromosome & 22 pairs of
autosomes (chromosomes; other than
the sex chromosome)
 Female has 2 X chromosomes; XX
 Male has 1 X chromosome & 1 Y
chromosome; XY
 X chromosome contain many vital
genes for life
Sex-linked Genes
 Genes that are located in sex chromosomes

 Female may have heterozygous and homozygous


individuals
 Female has 2 sex-linked alleles

 Male has only 1 sex-linked allele; hemizygous


 That is why males suffer from the effects of sex-
linked diseases more often than females

 Eg: haemophilia and colour blindness in human


Haemophilia and colour blindness in
human
 Human have 22 pairs of autosomes and a
pair of sex chromosome.
 Genes carried on the sex chromosomes are
said to be sex-linked.
 Human females have two X chromosomes ,
meaning they have two sex-linked alleles.
Haemophilia and colour blindness in
human
 In males, however, the Y chromosome is smaller and
cannot mirror all the genes found on the X
chromosome, so males have only one sex-linked
allele.
 This is why males suffer from the effects of X-linked
genetic diseases more often than females.

 Eg. Sex-linked genes


(i) Color blind
(ii) Haemophilia - a group of diseases where blood
does not clot normally
 Haemophilia ~ a disease
when blood does not clot
properly
 Lack protein ~ clotting
factor, factor VIII or IX
 Symptom: bleeding; more
susceptible to internal
bleeding
Haemophilia ~ Sex-linked gene

 Determine by 2 alleles; XH and Xh


 XH ~ normal allele; Xh hemophilia allele
Mechanism of inheritance of sex-
linked for haemophilia
Colour blind ~ Sex-linked gene
 Colour blind ~ unable or
decreased ability to see colour
 Gene that produce photopigment
is on X chromosome
 Red-green colour blind is the
most common & sometimes
blue-yellow
 It can limit a person’s career
choice
 Usually when it involves wiring or
cable eg: telephone / electronic
wiring / network cable
Colour blind ~ Sex-linked gene
 In certain countries, colour blind person
cannot become a pilot

Set of lights that change colours to indicate if your glide slope is too high or too low
Colour blind ~ Sex-linked gene
Polygenes

 A characteristic that is controlled by many


genes
 The gene exist in many different forms or
allele
 A quantitative traits that exhibits continuous
variation
 Influenced by many factors in environment
 Eg: height in human, body weight, skin colour,
eye colour and intelligence
Polygenes-eg.1 height
Polygenes
Polygenes-eg.2 skin colour
 One “dominant” allele contributes one unit of
colour
 Skin colour depends on the number of
“dominant” allele in the genotype (ranging from
0 to 6 alleles)
6.3 GENETIC MAPPING
Genetic Mapping

 A technique used to study the relative position


and sequence of genes on a chromosome
 Can be done only to linked genes
 The distance between 2 genes is the average
number of crossovers between them
 Genes that are very close to each other usually
are inherited together, they seldom recombine
 Genes that are far from each other have higher
probability that a crossover will occur between
them
Genetic Mapping

 Crossovers produce new combination of genes


 Offspring having new combination of genes are
recombinants
 The proportion of recombinants offspring from a
test cross is used to calculate the crossing over
frequency, (a.k.a as recombination frequency)
 Crossing over frequency is used to calculate the
distance between 2 genes involved
 The lower the value, the closer the genes
Relation between map unit to
crossing over frequency

 Distance between genes is known as map


unit (m.u) or centiMorgan (cM)
 Map unit is equal to the recombination
frequency written as percentage
Genetic Mapping
Genetic Mapping
Genetic Mapping
Genetic Mapping

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