PATTERNS OF INHERITANCE

A gene is the shortest stretch of DNA that codes for a single polypeptide chain. The sequence of nucleotides
that code for one polypeptide or protein. For instance, since haemoglobin is made of 2 types of polypeptide
chains (2 alpha and 2 beta chains), then 2 different genes code for the complete haemoglobin molecule. Each
gene in an organism’s genome is located on a particular chromosome and at a specific site along that
chromosome. The fixed location that a gene occupies on a chromosome is called the LOCUS (pl. Loci).

The exact sequence of nucleotide within a gene may vary from individual to individual. These variations are
known as alleles. An ALLELE is a variant form of a gene; the specific nucleotide sequence of a gene. For
example, humans possess 3 alleles for blood type (A, B and O), but they are all the same gene, that is for blood
type.

Normally, each gene is represented twice in each cell (diploid). It may be the same two alleles or two different
alleles of the gene. When an individual has 2 same alleles for a gene, that condition is termed HOMOZYGOUS.
For instance, an individual with the blood type AA is homozygous. If there are two different alleles present for
that gene, the condition is termed HETEROZYGOUS. So a heterozygous blood type could be AB, AO or BO.

In the heterozygous condition, one of the 2 alleles may not show up in the organism’s observable features. An
allele that requires only one of its type to show in the phenotype is termed a DOMINANT allele. An allele that
is only expressed when there is two of its type present is termed a RECESSIVE allele. For example, in the
human blood group A and B are dominant, while O is recessive. A person with the genotype BO is type B. A
person is O type only when there are two Os that is OO. Some alleles are CODOMINANT that is both are
expressed together at the same time. This is the case with the AB genotype.

MONOHYBRID INHERITANCE
The inheritance of one gene that has 2 alleles. A monohybrid organism is heterozygous for one gene or
character trait. A monohybrid is formed from parents homozygous for each allele: 1 homozygous dominant
and the other homozygous recessive. Taking two parents that differ in one trait (flies with long wings and flies
with short wings). Long wings are dominant over short wings. If these two flies mate, can be represented as:

Parents VV × vv

Phenotype long wing short wing

Gametes V V v v

F1 Offspring Vv

Phenotype long wing

All the F1 offspring are heterozygous, they are monohybrids. Since long wing is dominant over short wing,
then their phenotype is all long wings. If the F1 generation were to mate with each other, the result is:

Parents Vv × Vv

Phenotype long wing long wing

Gametes V v V v

F2 Generation VV Vv Vv vv

Phenotype long wing long wing long wing short wing

For monohybrid inheritance, the genotypic ratio for the F2 generation is 1:2:1. One homozygous dominant
(VV) : Two heterozygous (V v) : One homozygous recessive (v v). The phenotypic ratio is 3:1. Three long wing :
one short wing.

Gregor Mendel performed many genetic breeding experiments and achieved the above results. He proposed
several principles based on his results:

1. Since two parents contribute an allele each for any given characteristic to the offspring, then an
individual has two alleles for each characteristic.
2. In the formation of gametes, these alleles separate so that each gamete has only one allele for each
characteristic. When fertilization occurs, the zygote will have the requisite two alleles for that
characteristic. One from each parent.
3. When two different alleles for the same characteristic are present together, only one is expressed. This
is the dominant allele. The allele that is not expressed is called the recessive allele.

Mendel postulated a law that defined his findings:

Mendel’s First Law states: The characteristics of an organism are controlled by genes occurring in pairs. Of
such a pair of genes, only one can be carried by a gamete so that the members of the pair are carried in
different gametes.

This first law is named the Law of Segregation.

 EXCEPTIONS TO THE FIRST LAW
Not all variant alleles exhibit full dominance or recessiveness. In some cases of the heterozygous genotype,
both alleles exert an effect on the phenotype and the resulting character appears to be a blend of the two
different alleles. This doesn’t mean that the two alleles have combined, but that the characteristic of both are
observable.

In the case of CODOMINANCE, each allele’s characteristic is separate and distinctly observable. For example
coat colour in cattle.

Parents RR × rr

Phenotype Red white

Gametes R R r r

F1 Generation Rr

Phenotype Roan (A mixture of red and white)

CROSSING THE F1 GENERATION

Parents Rr × Rr

Phenotype Roan Roan

Gametes R r R r

F2 Generation RR Rr Rr rr

Phenotype Red Roan Roan white

Phenotypic ratio 1 : 2 : 1

Both the genotypic and phenotypic ratio is 1:2:1 when codominant alleles are present.

Recall that for normal dominance the phenotypic ratio is 3:1.

In the case of INCOMPLETE DOMINANCE, each allele’s characteristic is only partially expressed. The
phenotype is a blend of each allele’s characteristic. Again, the alleles themselves do not blend but what is
observed is a blend of the two characteristics. For example Snapdragon Flowers.

Parents RR × rr

Phenotype Red white

Gametes R R r r

F1 Generation R r (Pink)

CROSSING THE F1 GENERATION

Parents Rr × Rr

Phenotype Pink Pink

Gametes R r R r

F2 Generation RR Rr Rr rr

Phenotypic ratio 1 Red : 2 Pink : 1 White

Both the genotypic and phenotypic ratio is 1:2:1 when incomplete dominant alleles are present.
 DIHYBRID INHERITANCE

The inheritance of two genes, controlled by four alleles. Two alleles for each gene. Mendel
also preformed genetic experiments in which two genes’ characteristics were being observed.
He postulated a second law based on his findings. Mendel’s second law states: Each member
of a pair of alleles may combine randomly with either member of another pair of alleles. This
second law is named the Law of Independent Assortment.

Crossing two individuals that differ in two characteristics, for example: flies possessing long
wings and no spines with flies possessing short wing and spines. Long wing is dominant over
short wing and no spine is dominant over spines.

Parents VVSS × v v ss

Phenotype long wing, no spines short wing, spines

Gametes VS vs

F1 Generation VvSs

Phenotype long wing, no spines

CROSSING THE F1 GENERATION WITH EACH OTHER

Parents VvSs VvSs

Gametes V S, V s, v S, v s V S, V s, v S, v s

Nb. Recall Mendel’s second law, each of a pair will go with each of the other pair into a gamete. So a dihybrid
individual will have four possible gamete combinations.

F2 Generation:

GAMETES VS Vs vS vs
VS VVSS VVSs VvSS VvSs
Vs VVSs VVss VvSs Vvss
vS VvSS VvSs vvSS vvSs
vs VvSs Vvss vvSs vvss
The F2 Generation phenotypic ratio for dihybrid inheritance is 9:3:3:1. The genotypic ratio is 4:2:2:2:2:1:1:1:1.
 BEYOND MENDEL’S LAWS
Some characteristics follow the rules of simple Mendelian inheritance. There are those however, that do not.

POLYGENIC INHERITANCE occurs when one characteristic is governed by two or more sets of alleles, possibly
located on many different pairs of chromosomes. Each dominant allele has a quantitative effect on the
phenotype and these effects are additive. The result is a continuous variation of phenotypes, resulting in a bell
shaped curve. The more genes involved, the more continuous the variation and distribution of phenotypes.
Environmental effects also cause many intervening phenotypes.

Skin colour is controlled by a range of alleles, the total amount is not presently known. The range of colours
can be explained on the basis of two pairs of alleles and that each dominant allele contributes to the colour of
the skin.

GENOTYPE PHENOTYPE
AABB Very Dark
AABb or AaBB Dark
AaBb, AAbb or aaBB Medium Brown
Aabb or aaBb Light
Aabb Very Light

MULTIPLE ALLELES is the situation where a particular characteristic is under the control of more than two
variants of a gene; that is alleles.

Example 1: Three alleles for the same control the inheritance of the human blood type. A, B and O. Each
person will carry only two of the three possible alleles and both A and B are dominant over O. Individuals will
have one of the six possible combinations.

Example 2: Five alleles for the same gene control the inheritance of eye colour in Drosophila melanogaster, a
type of fruit fly. There are 15 possible combinations.

Where n is the number of alleles of a gene; the number of possible genotypes is n *(n+1)/2.

PLEIOTROPY is the phenomenon whereby a single gene influences more than one characteristic. Although a
single gene normally has a single, primary effect on one characteristic; many genes also have widespread
secondary effects on other characteristics. The secondary effects of gene action are called pleiotropic effects.

Example 1: The white eye gene in Drosophila melanogaster , produces white eye pigment primarily. The
secondary effects of the gene are altered form and colour of the testes and spermathecae.

Example 2: The vestigial wing gene in Drosophila melanogaster produces reduced wing size primarily. The
secondary effects are altered bristle pattern, reduced egg production and decreased life span.
EPISTASIS is the functional interaction between different (non allelic) genes. The expression of one gene may
be influenced by another gene. In the extreme case, one gene may completely suppress the expression of
another non allelic gene. A gene that masks, suppresses or interferes with the expression of another non
allelic gene is said to be EPISTATIC to that gene. The gene whose expression is interfered with is said to be
HYPOSTATIC.

Example : In mice, at locus 1, allele A codes for agouti colour and allele codes for solid black colour. At locus 2,
allele C codes for the presence of pigmentation and allele c codes for the absence of pigment. The alleles at
locus 2 determine whether or not the animal will be coloured but does not specify the colour. If a mouse has
cc at locus 2, it will be pigmentless regardless of what alleles are present at locus 1. The alleles at locus 1 are
unable to be expressed. The gene at locus 2 is epistatic to the hypostatic gene at locus 1.

Epistasis may be dominant or recessive. When a homozygous recessive condition suppresses another gene (is
epistatic), recessive epistasis is taking place. This is the case with the mice. When the dominant allele of a
gene is epistatic, then dominant epistasis takes place. Each has a different F 2 genotypic and phenotypic ratio.

RECESSIVE EPISTASIS

Gene 1: A A – Agouti; A a – Agouti; a a - black

Gene 2: C C – Pigment; C c – Pigment; c c – No pigment

CROSSING THE HETEROZYGOUS (DIHYBRID) F1 GENERATION—A a C c . The F 2 will be:

GAMETES AC Ac aC ac
AC AACC AACc AaCC AaCc
Ac AACc AAcc AaCc Aacc
aC AaCC AaCc aaCC aaCc
ac AaCc Aacc aaCc aacc

The phenotypic ratio is 9 Agouti : 3 Black : 4 Pigmentless

DOMINANT EPISTASIS

Gene 1: C C – White; C c – White; c c – colour Gene 2: R R – Red; R r – Red; r r - pink

From the dihybrid F1 generation, the F2 will be:

The phenotypic ratio is 12 white : 3 Red : 1 Pink

ENVIRONMENTAL EFFECTS

Genes are merely responsible for the production of specific proteins in required quantities at certain times.
These proteins act upon various substrates from the environment and upon each other to produce the final
organism. Drastic environmental effects may influence the expression of genes. For instance, a genetically tall
plant in a poor nutritional environment will be short.

PENETRANCE

In some cases, a gene may be present but may not be expressed for some reason. In this case, the gene is said
to be NON-PENETRANT. In other conditions the gene does become expressed in some individuals who have it.
Once a gene is expressed, it is said to be PENETRANT. Not all organisms of a population with a penetrant gene
will that gene. The percentage of individuals who does show a gene in their phenotype is a measure of the %
penetrance of the gene.

For example, In humans, pp codes for 5 fingers. If an individual has Pp or PP, they should have more than 5
fingers. We would expect 100% penetrance in individuals with P_ , but this isn’t the case. Some persons with
P_ have 5 fingers. P is therefore said to have INCOMPLETE PENETRANCE.

Furthermore, when penetrant, a gene may exert an effect which lies between full expression and non
penetrance. The degree to which a penetrant gene affects the phenotype is known as EXPRESSIVITY. Simply,
expressivity is when one genotype may be unevenly displayed in the phenotype.

For example, the gene for polydactyly, when penetrant, may affect one hand, both hands, one foot, both feet
and hands. Its expressivity varies.
NB. A test cross is a mating between the organism under consideration and the recessive genotype for the
characteristic(s).

A test cross is performed to determine whether or not the organism under consideration is homozygous
dominant or heterozygous for the characteristic(s) being studied. If the organism is homozygous, all the
offspring will demonstrate the dominant phenotype. If the organism is heterozygous, there will be a 1:1 ratio
of the dominant to recessive phenotype.

A chi-square test is a statistical test carried out to find the size of difference between observed and expected
results from any genetic experiment. The test seeks to determine if any variance had between observed and
expected results is predetermined or as a result of chance. It tests the difference between an actual sample
and another hypothetically or previously established distribution. A chi square (X 2) value is calculated.

The formula for the test is: sum of (observed – expected)2 /expected. That is: X2 = sum (O-E)2/E

The confidence limit, set by the researcher, corresponds with the level of significance. The higher the
confidence limit, the less the chance of error in the sample. The most commonly accepted confidence limit is
95%. It is an expression of how confident the researcher can be that their results are accurate. The 95%
confidence limit says the results are 95% accurate; there is only a 5% chance that the results are erroneous.

The chi square test also requires a degree of freedom. This is the number of categories being studied minus
one. D.f. = # categories- 1. One is subtracted because once the numbers of all but one category is known; the
value of the last category is predetermined. So only the original categories are said to be truly free.

The chi-square table carries chi-square values at different degrees of freedom at different confidence limits.
The researcher would calculate the chi square value of his experiment and compare this to the values in the
chi-square table. If the experimental chi square value is less than the tabulated chi square value for that
degree of freedom at 95% probability, then the variation between observed and expected is considered
INSIGNIFICANT; that is the difference arises only by chance and the experimental results can be accepted as
reliable and accurate. If the experimental chi square value is greater than the tabulated chi square value, then
the variation is considered SIGNIFICANT; that is the difference is the result of error in the experiment and the
results could not be accepted.

A null hypothesis is normally proposed at the commencement of an experiment. A null hypothesis is one that
takes no distinct position on the results to be had. For example, in an experiment investigating the effect of
temperature on enzyme action, the null hypothesis would be: “temperature has no effect on enzyme action”.

When the chi square test determines that genetic experimental results are insignificant, then the null
hypothesis will be accepted. When the results are significant, the null is rejected.
 SEX LINKED INHERITANCE
The inheritance of genes carried on the sex chromosomes. These genes do not follow regular Mendelian
inheritance. Males possess one X and one Y chromosome. Females have two X chromosomes.

In addition to genes that determine male and female characteristics, the sex genes carry some genes that are
not concerned with sexuality, such as those for colour blindness, haemophilia and muscular dystrophy. These
genes are carried on the X chromosome specifically. Because the Y chromosome is so small it doesn’t carry
many genes. In fact, the Y chromosome only carries genes for ‘maleness’.

SEX LINKED CHARACTERISTICS

 Usually skip a generation

 Passed from grandfather to grandson(via his daughter)
 If a mother does not have the condition, NONE of her sons will have it
 If a mother has the condition, ALL of her sons will have it
 If a mother is a carrier of the condition and the father is normal, there is a 50% chance her sons will.
None of her daughters will and there is a 50% chance her daughters will be a carrier of the condition.
 If a father has the condition and the mother is normal, ALL the daughters will be carriers and all the
sons will be normal
 If a father has the condition and the mother is a carrier, there is a 50% chance the daughters will be
carriers and a 50% chance they will have the condition. NONE of the daughters will be normal. 50% of
the sons will be normal and 50% will have the condition.
 Are normally recessive conditions

NB. Since the Y chromosome does not carry these genes, a male cannot be a carrier. He either has the
condition or not. Females, with two X chromosomes, are carriers if they possess the gene for the
characteristic only on one of the two X chromosomes.

Males get their X chromosome from their mother, so the condition of the father is irrelevant to sons
having the condition. It is the mother who determines whether or not the son will have the condition.

Females get one X from their mother and one from their father. So for a female to have the condition, her
father MUST have the condition and her mother must either have the condition or be a carrier.

SOME CROSSES

Parents XB Xb XB Y XbXb XBY

Offspring XBXB XbXB XBY XbY XbXB XbXB XbY XbY

Phenotype ratios –Females- 1 carrier: 1 normal Females- 100% carrier

-Males--- 1 normal: 1 with condition Males – 100% with condition