INHERITANCE
Heredity is the transmission of
genetic information from one generation to
the next, leading to continuity of the species
and variation within it.The study of heredity and variation is called
Genetics.
Key definitions
Chromosome
A thread of DNA, made up of genes.
Gene
A section of DNA, which codes for the formation of a
protein controlling a specific characteristic of the organism.
Allele
An alternative form of a gene. Pairs of alleles occupy the
same relative positions on chromosome pairs.
Haploid nucleus
A nucleus containing a single set of unpaired chromosomes,
e.g. in sperm and ova (eggs). In humans, the haploid
number is 23.
Diploid nucleus
A nucleus containing pairs of chromosomes, e.g. in somatic
(body) cells, In humans the diploid number is 46.
Genotype
The genetic make-up of an organism. Symbols are used to describe
genotypes e.g. TT,Tt or tt, where T and t
are alleles of a gene.
Phenotype
The characteristics visible in an organism, controlled by the
genotype, e.g. a tall plant or a dwarf plant.
Homozygous
Having a pair of identical alleles controlling the same
characteristics, e.g. TT, where T=tall. The organism will be
pure-breeding for that characteristics.
Heterozygous
Having a pair of dissimilar alleles for a characteristic, e.g.Tt
Dominant
A gene, that always shows in the phenotype of an
organism whether the organism is heterozygous (Tt) or
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homozygous (TT).
Recessive
A gene that only has an effect on the phenotype
when the organism is homozygous (tt)
Hybrid
offspring of crosses of parents with different traits (e.g., offspring of TT and tt)
Codominance
When different alleles are both expressed in the phenotype.
GREGOR MENDEL
Gregor Mendel is the “Father of Modern Genetics.” He was an Austrian monk who studied heredity
in pea plants. His work was published in 1865. •He described “factors” that were passed between
generations of plants. •We now know the factors are genes.
Mendel carried out research on inheritance and collected data that he
used to formulate the laws of inheritance which form the basis of the
study of genetics today, He chose the garden pea plant for his
experiment.
Monohybrid cross and the Punnett square
A monohybrid cross involves the crossing of
individuals and the examination
of one (mono) character (e g flower colour or height)
The Punnett square is a useful tool for
predicting the genotypes and phenotypes of
offspring in a genetic cross involving Mendelian
traits.
Gregor Mendel crossed true-breeding plants that differed for a given
character.
For instance, when mendel crossed a true-breeding tall pea plants with
dwarf(one trait)
The F1 generation seeds were all tall; the dwarf trait failed to appear at
all.
Because the tall height trait completely masks the dwarf height trait when
true-breeding plants are crossed, the tall height trait is called dominant,
and the dwarf(short) trait is called recessive.
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The F1 plants were allowed to self-pollinate. This step is called the F1
cross). The progeny from this second cross is called the F2
generation.When the F2 generation were examined, they were roughly
¾ Tall anf ¼ Dwarf(short).
The phenotypic ratio is 3 tall:1dwarf(short)
NB
1. A cross between a pure-breeding
tall pea plant and a pure-breeding
dwarf pea plant.
As tall is dominant to dwarf, and both
plants are pure-breeding, their
genotypes must be TT and tt.
2. A cross between
two heterozygous tall pea plant.
The genotype of both plants must
be Tt.
3. A cross between
two heterozygous tall pea plant.
The hetetozygous tall pea plants
must be Tt.
3
The dwarf pea plants must be tt.
CODOMINANCE
Sometimes, neither of a pair of alleles is completely
dominant or completely recessive. Instead of one of
them completely hiding the effect of the other in a
heterozygote, they both have an effect on the
phenotype. This is called codominance.
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The result is that there can be three different phenotypes. When writing
the genotypes of codominant alleles, the common convention is to use a
capital letter to represent the gene involved, and a small raised letter for
each phenotype.
Imagine a kind of flower which has two alleles for flower colour. The allele
Cw produces white flowers, while the allele CR produces red ones. If these
alleles show codominance, then the genotypes and phenotypes are:
genotype phenotype
Cw Cw white flowers
Cw CR pink flowers
CR CR red flowers
.
Inheritance of A, B, AB and O blood group - an example of
codominance
In humans, there are 4 blood types (phenotypes): A, B, AB, and O
Blood type is controlled by 3 alleles: I , I , I (the base letter = I
A B O
stands for immunoglobulin)
I is recessive, two IO alleles must be present for the person to have
O
type O blood
I and I are codominant but both are dominant to I . If a person
A B o
receives an I allele and a IB allele, their blood type is type AB, in
A
which characteristics of both A and B antigens are expressed.
Because IO is dominated by both IA and IB alleles, a person with blood
group
A could have the genotype I I or I I . This has implication when having
A O A A
children because, if both parents carry the I allele, a child could be born
O
with the genotype I I (blood group O), even though neither of the parents
O O
have this phonotype.
INHERITANCE OF SEX IN HUMANS
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Of the 23 pairs of chromosomes present is each human cell, one pair is
the sex chromosomes. These determine the sex of the individual. Male
have XY,female have XX. So the presence of a Y chromosome results in
male features developing.
VARIATION
Variation is all the differences which exist between
members of the same species. It is caused by a
combination of genetic and environmental factors.
There are two kinds of variation ie continuous and discontinuous.
Continuous variation
- shows a complete range of the characteristic within a population.
- caused both by both gens (often a number of different genes)
and environment:
Plants: availability of/competition for: nutrients, light, water;
exposure to disease…
Animals: availability of food/balanced diet;
exposure to disease (or the availability of health serviced for
humans).
Discontinuous variation
- seen where there are obvious, distinct categories for a feature.
- no intermediates between categories, the feature cannot usually change
during life.
- caused by a single gen/a small number of genes, with no
environmental influence.
Mutation, Down syndrome, effect of radiation
Mutation is a unpredictable change in the genes or chromosome
number, as a result of fault copying when DNA is replicated, faulty
separation of chromosomes during cell division, or exposure to radiation
or some chemicals.
Down’s syndrome is caused by a mutation. When ova are formed in the
ovaries, the chromosome number is halve. During this division process
(meiosis), one of the chromosome (number 23) sticks to its partner. This
results in one ovum with 24 chromosomes and one with only 22, and the
ovum with 24 chromosomes is still viable. If it is fertilized, the fetus
formed
will have 47 chromosomes instead of 46.
3 chromosome 21 in Down syndrome.
The presence of the extra chromosome causes unusual characteristics in
the
baby. These usually include lowered life expectancy, mental retardation
(although some Down’s children are very intelligent), early puberty, and a
distinctive round face and short neck.
Ạ child with Down syndrome.
Effects of ionising radiation and chemicals on the rate of mutation
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Mutation are normally very rare. However, exposure to radiation and
some chemicals, such as tar in tobacco smoke, increases the rate of
mutation.
Exposure can cause uncontrolled cell division, leading to the formation
of tumours (cancer).
The development of cancer from mutated cells.
Exposure of gonads (testes and ovaries) to radiation can lead to
sterility or to damage to genes in sex cells that can be passed on to
children.
Sickle cell anaemia and its incidence to that of malaria
Sickle cell anaemia is caused by a mutation in
the blood pigment haemoglobin. When the
faulty haemoglobin is present in a red blood cell,
it causes the cell to deform and become sickleshaped,
especially when oxygen levels in the
blood become low.
Normal and sickle red blood cells
In this state the sickled red blood cells are less
efficient at transporting oxygen and more likely
to become stuck in a capillary, preventing blood flow.
The faulty allele is dominated by the allele for normal haemoglobin, but
still has some effect in a heterozygous genotype.
The possible genotypes are:
HNHN normal haemoglobin, no anaemia
HNHn some abnormal haemoglobin, sickle cells trait (not lifethreatening)
HnHn abnormal haemoglobin, sickle cells anaemia (life-threatening)
Malaria is a life-threatening disease caused by a parasite that invades
red
blood cells. The parasite is carried by some species of mosquito.
A person who is heterozygous (HNHn ) for sickle cell anaemia
has protection from malaria, because the malaria parasite is unable
to invade an reproduce in the sickle cells.
A person who is homozygous for sickle cell anaemia (HnHn) also
has protection, but is at high risk of dying form sickle cell anaemia.
A person with normal haemoglobin (HNHN) in a malarial country is
at high risk of contracting malaria.
When the distributions of malaria and sickle cell anaemia are shown on a
map of the work, it is found that the two coincide in tropical areas
because
of the selective advantage of the Hn allele in providing protection against
malaria.
