Biology Chapter 6: Patterns Of Inheritance

Mendelian Genetics
Phenotype refers to all the features of an organism other than its genes. These features are
anything to do with biochemistry, physiology, morphology (outward appearance) and anatomy.
Genotype is the genetic constitution of an organism; it usually refers to the alleles of one or two
genes as you will see in the following pages.

 A character is a feature of an organism such as flower colour in plants, feather colour in birds or
fur colour in an animal.
 A trait is a particular form of a character (e.g. white flower, black fur).
 A true-breeding trait is a trait that has only one form present for many generations.
 Inbreeding is self-pollination in plants or the breeding of closely related individuals
 The parental generation are the two individuals which produce progeny (offspring)
 The progeny of this cross are referred to as the first filial generation, designated F1. The breeding
of the first filial generation leads to the second filial generation or F2.
Animal and Plant Breeding
Features of Barbadian blackbelly sheep:

 Heat tolerant
 Grow coarse hair instead of wool (so avoid overheating in the tropics)
 Disease and parasite resistant
 Breed throughout the year (unlike other breeds of sheep)
 Give lean and mild-flavoured meat even on poor food
 Have more stamina and are more agile than most breeds of sheep.
Features of Jamaica Hope cattle:

 Heat tolerant
 Good resistance to ticks (insect external parasites) and tick-borne diseases
 High milk yield
 Survive on poor pasture.
Genes and Chromosomes
Genes are the sections of this DNA that are used by cells to code for polypeptides.
The position of a gene on a chromosome is its locus
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Mendel’s Laws of Genetics

Monohybrid Crosses

 An allele is one of two or more forms of a gene arising by mutation and occupying the same
relative position or locus (plural: loci) on homologous chromosomes. Alleles undergo pairing
during meiosis
 A dominant allele is one that produces the same phenotypic character whether the pair of alleles is
heterozygous (one copy of the dominant allele and one of the recessive allele) or homozygous
 An allele that is masked in the presence of its dominant partner in the heterozygote is said to be
recessive.
 A monohybrid cross is one in which only one gene and its alleles are being considered.
[ For example, 1, Mendel took pollen from pea plants from a true-breeding strain that produced
wrinkled pea seeds and placed it on the stigmas of pea flowers of a true-breeding plant that produce
smooth pea Mendel concluded that the smooth seed trait was dominant over the wrinkled seed trait. In
a second experiment, Mendel germinated the F1 smooth pea seeds and allowed them to self-pollinate.
The F2 generation produced smooth and wrinkled seeds in the proportion 3 smooth : 1 wrinkled. The
wrinkled seed trait is recessive.
The S trait (smooth seeds) is dominant over the s trait (wrinkled seeds) when both forms of the gene
are present. Individuals that are true-breeding for a trait have two copies of the same allele, SS or ss.
All of the pea plants in true-breeding peas with wrinkled seeds have the allele pair ss. If the dominant
S allele were present, the plants would produce smooth seeds.
Peas with the SS alleles are also homozygous. Plants with two different alleles for the same gene (Ss)
are heterozygous]
Example 2:
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Law of Segregation
The Law of Segregation, the first law of Mendel’s model of inheritance, states that when an individual
produces gamete, the alleles separate so that each gamete receives only one member of the pair of
alleles. This segregation is the result of the separation of homologous chromosome during anaphase I
of meiosis

 A Punnett square is a device that allows us to determine all the possible combinations of
gametes
 A Test cross is a method by which it can be determined whether a given individual showing a
dominant trait is homozygous (AA) or heterozygous (Aa).
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Confirming Mendel’s Ratio’s

During meiosis in the F1 flies, the alleles separate because they are on homologous chromosomes
that separate during meiosis I. This separation is segregation of a pair of alleles. Notice also that
fertilisation gives rise to variation since gametes with the allele W can fuse with gametes with W
or w to give flies with the homozygous dominant genotype (WW), flies which are heterozygous
(Ww) and flies which are homozygous recessive (ww)
The Law of Independent Assortment
The Law of Independent Assortment, the second law of Mendel’s model of inheritance, states that
alleles of different genes assort independently of one another during the formation of gametes.
The Law of Independent Assortment applies to genes that are on separate chromosomes but not
necessarily to those that lie on the same chromosome.
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Dihybrid Cross
A dihybrid cross is one in which two genes and their alleles are being considered. A double
heterozygote is an individual with the same alleles for both genes
The following are all dihybrid crosses where A, a, B and b are the alleles:

 AABB × AAbb
 Aabb × aaBB
 AaBB × AaBb
 Aabb × AABB
Mendel conducted pea experiments with two seed characters – seed shape and seed colour. Smooth
seeds (S) are dominant to wrinkled seeds (s) and yellow seeds (Y) are dominant to green seeds (y). So
a true-breeding strain of pea with smooth yellow seeds has the genotype SSYY. A second strain of pea
with the recessive phenotype produced wrinkled green seeds and has the genotype ssyy. A cross
between the two strains produced an F1 generation in which all the plants had smooth yellow seeds
and the genotype SsYy
Mendel performed a dihybrid cross between plants with the alleles SsYy. These gametes combine
randomly in the F2 generation to form eight different genotypes.
The nine different genotypes produce only four phenotypes: smooth yellow, smooth green, wrinkled
yellow and wrinkled green. The two new phenotypes (wrinkled yellow and wrinkled green) are
recombinant phenotype
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Example:
Wild type fruit flies have long wings and grey bodies. There are some that have short wings and black
bodies. Pure bred flies of both types were crossed and all the offspring had the wild type phenotype.
When these F 1flies were crossed all combinations of features appeared in the offspring, in the
following numbers:
Wild type (long wings and grey body), 650
Long wings and black body, 198
Short wings and grey body, 225
Short wings and black body, 68. This approximates to a ratio of 9:3:3:1. But if you look you can see
that the ratio of long wings to short wings is about 3:1 and the ratio of grey body to black body is also
about 3:1. This suggests that the two genes have segregated independently of one another and are
therefore on different chromosomes. The genetic diagram shows what happens in this dihybrid cross
which involves the inheritance of two genes.
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Example 2:

Genetic Ratios
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Analysing, Interpreting and Understanding Genetic Experiments

Statistical significance is a scientific criterion used as the basis for accepting or rejecting the null
hypothesis in any given instance. A hypothesis is a supposition or proposed explanation based on
limited evidence.
A null hypothesis is a hypothesis that is expressed against a prediction
The criterion that determines the statistical significance is the probability that the experimental
observations are different from the observations predicted by the null hypothesis
A probability of 5 % or 0.05 is accepted as the threshold for statistical significance. If the probability
of obtaining a result by chance is 5 % or less, the result is regarded as significant and the null
hypothesis is rejected. If the probability of obtaining the result by chance is greater than 5 %, the null
hypothesis is accepted and the result is regarded as not significant
The Chi-Squared Test
The chi-squared test (r2 test) is a statistical test that predicts differences between groups.
Using Mendel’s second law of inheritance, the Law of independent assortment, analyse an experiment
in which we crossed two pea plants that are heterozygous for seed colour (Yy).

The chi-squared test can be used to determine whether our observed numbers of yellow and green
seeds differ from the expected ratio of 3: 1.
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Degrees of Freedom
Statistic that affects the r2 value is the number of degrees of freedom (df). Degrees of freedom are
related to sample size and or the number of groups or classes into which the data are divided.
The threshold r2 value for 5 % (0.05) probability and one degree of freedom is 3.841. To be
significant at the 5 % level, r2 must equal or exceed 3.841. Since 1.0667 does not exceed 3.841, there
is no difference from the expected 3 : 1 ratio and therefore the seed colour is segregating according to
Mendelian inheritance

Examples of Chi-squared Calculations

A scientist is trying to find out the effect of four new pesticides on cockroaches. A group of
cockroaches were exposed to each of the pesticides to see whether the pesticides differed in their
ability to kill the roaches. It was expected that all of the pesticides would be equally effective in
killing the cockroaches. To determine the expected number of dead cockroaches for each pesticide we
divide 76 (total number of dead cockroaches) by 4 (number of pesticides) to give 19 (Table 6.3).
Hypothesis: the four pesticides are differently effective in killing cockroaches.
Null hypothesis: the four pesticides are equally effective in killing cockroaches.
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Degrees of freedom = 4 – 1 = 3 because there are four pesticides groups.

Checking r2 = 11.34 for 3 degrees of freedom at a probability level of p <0.01.
19.0526 is larger than 11.34 and shows that the value is significant at p <0.01
Incomplete dominance, co-dominance, epistasis, hybrid vigour and sex-linked inheritance
A single allele may have multiple phenotypic effects when it is expressed. An allele can mutate and
become a different allele due to changes in its DNA sequence. A mutation is a stable, heritable change
in the DNA sequence of a gene.
Coat colour in rabbits is determined by one gene, which has four alleles: C, cch, ch and c. The
phenotype of the rabbit coat ranges from dark grey to albino under the influence of these alleles
(Figure 6.7). The alleles have a dominance hierarchy

That the dominance hierarchy parallels the effects that the alleles have on coat colour. A rabbit that
has the C allele in combination with any one of the other three alleles has a shade of grey in its coat. A
rabbit with the alleles cc is albino.
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Incomplete Dominance
Incomplete dominance occurs when alleles are not fully dominant or recessive to one another and the
heterozygotes show an intermediate phenotype between that of two homozygotes
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Co-dominance
In codominance, two alleles at a particular locus of the DNA produce two different phenotypes that
both appear in heterozygotes. The ABO blood group system in humans is an example of
codominance. The three alleles that influence blood type are written IA, IB and i.
The alleles determine certain proteins called antigens on the surface of red blood cells. The red blood
cells are suspended in a fluid matrix called serum. Serum contains proteins called antibodies that react
with red blood cells of a different type from another person
Different combinations of the IA, IB and i alleles produce four different blood types or phenotypes: A,
B, AB and O
These three alleles are at one locus on the DNA
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Example 1:
The four o’clock plant (Marvel of Peru), Mirabilis Jalapa, has three different flower colours. If pure
bred red-flowered plants are crossed with pure bred white-flowered plants then the F1 plants have
pink flowers. They are different from either of the two parental phenotypes. This looks like ‘blending
inheritance’ that Mendel disproved with his experiments on peas.
However, if these pink-flowered plants are interbred then the next generation gives all three colours in
a 1:2:1 ratio. This is the same as the genotypic ratio in the monohybrid cross on page 94. The reason
for the intermediate colour (pink) is that both alleles contribute to the phenotype of the heterozygous
plants. They are known as codominant alleles. The alleles are written as follows:
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This shows that if alleles are codominant more variation appears as there are three flower colours not
two, as would be the case if the allele for red was dominant to the allele for white
A pleiotropic allele is a single allele that has more than one distinguishable effect
Epistasis
This is an inheritance pattern in which one gene mask the expression of another gene. The second
gene is at a different locus and each gene in epistasis is inherited independently. Several genes
determine the coat colour.
The homozygous recessive genotype aa results in un-banded hairs and the coat colour are black.
Another allele at a locus on a second chromosome affects the formation of hair pigments in the mice.
The dominant allele B at this locus allows normal colour in the coat but the homozygous recessive bb
blocks all pigment production; it does not matter what the genotype is at the A locus. Mice with the
genotype bb are albino mice
If mice with the agouti coat colour (AABB) are crossed with albino mice (aabb), the F1 generation
will be agouti (AaBb). If the F1 mice are mated with each other to produce the F2 generation, then
epistasis will result in a phenotypic ratio of 9 agouti:3 black:4 albino.
This ratio deviates from the expected ratio of 9:3:3:1 because of the effects of epistasis

Epistasis is also demonstrated where two genes are mutually dependent or complementary. In this
type of epistasis, the expression of each gene depends on alleles of the other gene. This can be seen in
enzyme metabolic pathways that require each enzyme to be functional to produce the reaction product
Example:
Enzyme 1 is coded by the gene A/a and enzyme 2 is coded by the gene B/b. If the genotype of the
plant has dominant alleles of both genes, then the flowers are blue. In plants that are homozygous
recessive, aa, it does not matter whether enzyme 2 is present or not as the substance Y will not be
produced and the flowers are white. If allele A is present then Y will be produced. In plants that have
allele A but recessive, bb, then Y will not be converted to Z and the plant will have magenta flowers.
This cross does not give a 9:3:3:1 ratio as in the dihybrid cross
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Both A and B are needed to produce blue, but in A-bb magenta is produced as no functioning enzyme
2 is made. But when there are only recessive alleles (aa), neither B (to give blue) nor b (to give
magenta) is expressed.
In this example the gene A/a is epistatic over gene B/b since if the genotype is aa (homozygous
recessive) gene B/b cannot be expressed. Gene B/b is said to be the hypostatic locus. This is recessive
epistasis. An epistatic gene may also act by inhibiting the action of another gene, perhaps by
inhibiting its transcription or by coding for an inhibitor of an enzyme. This type is known as dominant
epistasis
Hybrid Vigour
Inbreeding leads to increased frequency of the homozygous recessive in the population. If two
homozygous strains of a plant or animal are bred together, their offspring are more vigorous or
phenotypically much stronger than the parents. This is called hybrid vigour; it is also known as
heterosis or heterozygosis
Polygenes

 Polygenes are groups of genes that control heritable characters

 Variation in characters that are controlled by polygenes is continuous or quantitative
 In contrast, genes that control individual characters are discontinuous or discrete.
Sex-linked Inheritance
In humans and other animals, sex is determined by sex chromosomes. Each normal animal has two
sex chromosomes, in addition to two copies of each of the rest of the chromosomes, which are called
autosomes. Female mammals have two X chromosomes and male mammals have an X and a Y
chromosome. Females produce one type of gamete, each with a single set of autosomes plus the X
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chromosome. Males produce two types of gametes; one has the X-chromosome plus the autosomes
and the other has the Y chromosome plus the autosomes.

A gene that is located on the X chromosome is called a sex-linked gene

The alleles of the sex-linked gene are passed from fathers and mothers to their offspring. Daughters
(XX) inherit sex-linked genes from the father and from the mother. Sons (XY) inherit sex-linked
genes from their mothers only. If a son inherits a recessive allele of sex-linked gene from his mother,
he will express the trait. If a daughter inherits a recessive allele of a sex-linked gene from her mother
and also from her father, then the trait will be expressed
Examples of sex-linked disorders are: red/green colour blindness and haemophilia. In red/green colour
blindness, affected people confuse the colours red and green. Red/ green colour blindness is a
recessive disorder and is more common in men than in women.
Example:
When pure-bred white-eyed female fruit ies were crossed with pure-bred red-eyed male fruit ies,
the next generation were not red-eyed as might have been predicted. Instead all the females were red-
eyed and all the males were white-eyed. There were no red-eyed males and no white-eyed females.
The expression of eye colour had swapped sexes. When this F1 generation were crossed the next
generation had all combinations of sex and eye colour in approximately equal numbers.
The gene for eye colour is on the X chromosome. There is no equivalent gene on the Y chromosome.
This means that females have two copies of this gene in the same way as with genes that have their
loci on autosomes. Males only have one copy as they only have one X chromosome. To show
inheritance of a sex-linked gene it is usual to include the X and Y chromosomes and put the symbols
for the alleles as superscripts.
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Note the following features of sex linkage:

 The recessive phenotype is more common in males than in females

 Males cannot inherit the recessive condition from their male parent, but females can
 Females can be heterozygous and therefore carriers of the condition, males can never be carriers
 Males inherit their Y chromosome from their father and this does not have the loci that are found
on the X chromosome
Pedigree Diagrams see page 108