17.

3 Inheritance
1. Describe inheritance as the transmission of genetic information from generation to
generation
2. Define an allele as an alternative form of a gene
3. Understand and use the terms: dominant, recessive, phenotype, genotype, homozygous
and heterozygous
4. Use genetic diagrams, including Punnett squares, to predict the results of monohybrid
crosses and calculate phenotypic ratios, limited to 1:1 and 3:1 ratios
5. Explain why observed ratios often differ from expected ratios, especially when there are
small numbers of offspring
6. State that two identical homozygous individuals that breed together will be pure-breeding
7. Explain codominance by reference to the inheritance of the ABO blood groups
(phenotypes A, B, AB, O, gene alleles IA , IB and Io )
8. Describe the determination of sex in humans (XX and XY chromosomes)
 Inheritance
 Hereditary characters or traits can be passed from one generation to other
 We inherit thousands of different contrasting characters
e-g curly hair / straight hair, can smell / can’t smell, tall/dwarf
 Each contrasting character is controlled by one gene i-e one pair of allele
 All of these passed independent of others

Monohybrid inheritance
 Inheritance involving only one pair of contrasting characters
 It is of two main types
 Complete dominance – one allele dominate the other
 Codominance or blending dominance --- both allele have their effect
 Monohybrid Inheritance
• The inheritance of just one pair of contrasting characters
• Cross 2 pure breeding parents with contrasting characters
• We will get F1 (first filial) generation in which all offspring
will have dominant phenotype
• Cross 2 parents of F1 generation
• We will get F2 (second filial) generation in which ratio of
phenotype will be 3 : 1 ( 3 dominant & 1 recessive)
 dominance
 Complete dominance occurs when one allele of a gene completely masks
another.
 The trait that is expressed is described as being “dominant” over the trait
that is not expressed.
 Presence of one dominant allele will decide the phenotype of individual
 Only that dominant allele is responsible for a character
 Only that one needs to be present in heterozygote for the character to be
expressed
 A recessive trait is a trait that is expressed when an organism has both
the recessive alleles (only expresses itself in homozygous condition)
 Recessive trait disappears in F1, but reappears in F2 about ¼
of progeny
 Genetic diagram
 Can be used to show combination of alleles produced by two
parents
 Represent allele by letters capital for dominant & lower case for
recessive

Homozygous dominant X Homozygous recessive

Phenotype Brown fur colour male Grey fur colour

female B B b b

Genotype BB bb

Gametes

(F1) generation Bb Bb Bb Bb
 Genetic Diagram for heterozygous
Heterozygous X Heterozygous

Brown fur colour male Brown fur colour

female Bb Bb
B b b
B

BB Bb Bb bb
(F2) generation
(genotype)

3 brown : 1 grey (phenotype)

Probability ratio 3 : 1
heterozygous & homozygous recessive

Probability ratio--- 2 heterozygous : 2 homozygous recessive

i-e 1 : 1 or ½
 Dominant

Probability ratio ---- all dominant ---- 2 homozygous & 2 heterozygous

cross among homozygous recessive

Probability ratio --- all recessive in F1

 Punnett square
Cross between homozygous BB dominant
If both individual are heterozygous Bb
and homozygous bb recessive

Genotype bb Genotype Bb
& Grey & Brown
Phenotype Phenotype
BB b b Bb B b
Brown Brown
B Bb Bb B Bb Bb
brown brown brown brown
B Bb Bb b Bb bb
brown brown brown grey
Ratio in
Ratio in 3 1
large all no grey
large brown grey
samples brown
samples
 Punnett square
If one individual is heterozygous Bb If one individual is heterozygous Bb
& other is homozygous recessive bb & other is homozygous dominant BB

Genotype bb Genotype & BB

& Grey Phenotype Brown
Phenotype Bb B B
Bb b b Brown
Brown B BB Bb
B Bb Bb brown brown
brown brown b Bb Bb
b bb bb brown brown
grey grey Ratio in all 0
Ratio in 1 1 large brown grey
large brown grey samples
sample
Cross true bred Tall plant with True bred Crossed two heterozygous Tall plants
Dwarf plant F1 Generation F2 Generation

All offspring with same phenotype but 3 of the offspring tall and 1 is dwarf
different genotype in F1(heterozygous) So probability ratio 3:1(2 homozygous & 2 heterozygous)
 probability / Pedigree analysis
 Observed ratios often differ from expected ratios, especially when
there are small numbers of offspring as in human where only one
offspring is produced at a time so probability of that offspring
inheriting a particular feature is often given.
 Probability is expressed as %.
 If two heterozygous parents have a child then probability of this child
having recessive genotype is 25% or 1/4
 if more than two probabilities are asked then we should X two
probabilities
 For example ½ of being male/female & ¼ of being recessive so answer
will be 1/8

Pedigree analysis is method used to determine pattern of

inheritance in human, give information on:
 Autosomal recessive
Cystic fibrosis a problem in which
person’s lung produces thick & sticky
mucus making gaseous exchange difficult

Affected person must be homozygous

recessive (ff)

Normal person’s genotype contain at least

one of the dominant allele (F) so protein is
present in their mucus

If 2 unaffected people have an affected

child, or If affected person has unaffected
parent then it must be a recessive pedigree

Usually see skipped generations, because

most mating are with homozygous normal Expected that 25% are
individuals but affected individuals can be affected & 75% are unaffected
 Autosomal dominant
 If 2 affected people have an unaffected
child, it must be a dominant pedigree
 Affected person can be heterozygote
(Hh) or homozygote dominant (HH)
 Both parent are affected and capable of
transmitting the trait
 Every affected person must have at
least one affected parent
 Expected that 50% are affected & 50%
are unaffected
 No skipping of generation
 The inheritance of sex
 Whether a child is male or female is determined at the
time of fertilization. One of the pair of 23 chromosome
is sex chromosome
 Gamete has 23 single chromosomes out of which 1
is sex chromosome
 In female sex chromosomes are identical & all female
gametes contain same X- chromosome
 In male one of sex chromosome is X & other is shorter
Y, so in male 50% gamete contain X & while other 50%
contain Y chromosome
 So an equal chance of ovum to fuse with sperm either
carrying X resulting female child or Y resulting male
child, thus equal chances of Female genotype
Sex determination--Genetic diagram

Probability ratio of male/female baby is also 50% i-e ½ or 1:1

Sex determination / Punnett square
 X-linked disorder
X-linked Recessive
 Female express it if gets recessive allele from both parents
 As X is Dominant trait in males [XY] so male will express it if one
allele is there
 An affected male cannot pass the trait to his sons but passes allele
to all his daughters
 A female carrier passes trait to 50% of his sons E-g Colour
blindness

X-linked Dominant
 Very rare cases
 Males and females both affected in this disorder but males are more
more males are likely to suffer from

X-linked disease
males are XY ; females are XX ;
Males have only one X with allele B / b – so it will
express
greater chance that affected males will not have
the dominant allele (B)
Females have two X with alleles/ B / b – so if
recessive is over there dominant will cover it
Colour blindness is the effect of homozygous recessive allele
on X chromosome
 y-linked disorder
Caused by mutation in gene exist on Y chromosome
Very rare cases as Y-chromosome is very small
Affected male passes to all sons but not to daughter as son
inherit Y from father while daughter inherit X e-g symptoms of
infertility
 Test or Back cross
 Genotype of recessive Phenotype both allele (tt) can be easily
shown while genotype of dominant Phenotype allele can be (TT
or Tt) so its not easy to tell
 Genotype of dominant trait can be known by performing
Testcross
i-e individual showing dominant trait is mated with homozygous
recessive
 If the organism is homozygous dominant then all offspring will be
dominant otherwise 50% will be dominant & 50% will be recessive
 Back cross ---------- cross an organism with one of its parent
 marriage between closely-
related
Society discourages because
Parent with normal phenotype appear normal as they do not
show mutant genes
Heterozygotes are carriers of recessive allele
Greater chance for children to inherit 2 recessive alleles i-e being
homozygous
Chances of offspring suffering from mutational condition
 Offspring that are produced by
crossing two different species are
usually infertile.
 Their chromosomes or genes do not match
 Both gametes have different number of chromosomes
 Pairing of chromosomes are different
 Meiosis not possible so unable to produce gametes
 Incomplete dominance or co-
dominance
 When both alleles have an equal effect on individual’s
phenotype, so the resulting individual show a 3rd phenotype i-e
different from two homozygous possibilities and is intermediate
between the two found in parents
 Two alleles are equally dominant, both have an effect & are
expressed
 Intermediate phenotype can be explained with reference to
heterozygote.
 Example:
 pink flower

Red flower white flower

pink flower
 This diagram shows co-dominance

 An intermediate
phenotype in a
heterozygous
individual is known as
incomplete dominance.
It happens when
the dominant allele is
unable to mask the
effect of the recessive
allele completely.

 In this example, a white

bull (WW) mates with a red
cow (RR), and their
offspring exhibit co-
Multiple Alleles– if gene exist in more than 2 alleles
Parents with different blood groups
are able to produce children with genotype Phenotype
blood groups different from Blood
themselves Group
IA IA A

The inheritance of human blood IA IO A

group IB IB B

there exist 3 possible alleles IA, IB & IB IO B

IO out of which a person possess IO IO O
only 2. IA IB AB
IA & IB are dominant over IO, but
neither over one another

Possible genotype are 6 while

Genotype IA IO
& Blood Group A
Phenotyp
e
IB IO
B Group
IA IO
B

I B IAIB IB IO
Group
AB
25% Group B
25%
IO IO
IAIO Group O
I O
Group A 25%
25%
 Twins
identical twins
 one embryo separates into two

 each develops into a new

individual
 they should twins
• non-identical have same
or
characters
Fraternal and same sex
twins
 formed from two different
zygotes
 from two separate
fertilizations
 usually have different
characters