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DNA
The DNA in all of your cells is approximately two
meters long, except red blood cells which have none
and sperm or eggs which only have about one meter.
Because it is so long it is very thin and coiled into
structures called chromosomes.
Chromosomes
The chromosomes are found in the nucleus of each
cell. Human body cells each contain 23 pairs of
chromosomes, half of which are from each parent.
So, human gametes (eggs and sperm) each contain
23 chromosomes. When an egg is fertilised by a sperm, it becomes a cell with 23 pairs of chromosomes.
This is why children resemble both their
parents – half of their chromosomes and DNA
comes from their mother, and half from their
father.
Chromatids
Gene
Motiour Rahman Khan
2
IGCSE Biology Examination Year 2022-2023
A gene is a section of DNA that is responsible for a characteristic like eye colour or blood group. Humans
have around 20,000 genes. DNA makes up genes, which makes up chromosomes. One copy of all your
chromosomes is called your genome.
centromere
Alleles
When the chromosomes are in pairs, there may be a different form (allele) of the gene on each
chromosome.
DNA structure
DNA is the molecule that holds the instructions for
growth and development in every living thing. Its
structure is described as a double-stranded helix held
together by complementary base pairs.
Motiour Rahman Khan
3
IGCSE Biology Examination Year 2022-2023
The basic units of DNA are nucleotides. These nucleotides consist of a deoxyribose sugar, phosphate and
base. The nucleotides are identical except for the base, which can be an adenine, thymine, guanine or
cytosine.
These basic units are linked together to form strands by strong covalent bonds between the deoxyribose
sugar of one nucleotide and the phosphate of the next nucleotide. These strong bonds form a sugar-
phosphate backbone.
All cells store their genetic information in the base sequence of DNA. The
genotype is determined by the sequence of bases
E.g. the codon AUG codes for the amino acid methionine and serves as a start signal for the beginning of
translation, CCG for glycine and CAG is for valine and three (UAA, UAG, UGA) serve as stop signals to
designate the end of protein synthesis.
Protein synthesis:
the gene coding for the protein required untwists then unzips, the H-bonds between the strands
break
free RNA nucleotides form complementary base pairs with one strand of DNA bases
weak hydrogen bonds form between base pairs
sugar phosphate bonds form between RNA nucleotides
mRNA strand is synthesized
mRNA peels off the DNA and moves out of the nucleus into the cytoplasm
Translation takes place on the ribosomes in the cytoplasm, or found on the rough Endoplasmic Reticulum
(ER):
It is important to note that the tRNA is reused and collects another specific amino acid. Once the protein
has been synthesised mRNA may move to another ribosome to make a further protein or it can be broken
down into free nucleotides to be reused.
After translation, the protein passes into the channels of the rough endoplasmic reticulum (ER) for
transportation. The protein is then passed from the rough ER to the Golgi apparatus inside tiny fluid-filled
sacs, called vesicles. The Golgi apparatus is a system of membranes, which are responsible for the
modification, processing, and packaging of the proteins. The protein may have a carbohydrate added, to
form a glycoprotein. The Golgi apparatus packages the protein in a secretory vesicle, which fuses with the
cell membrane and releases the protein from the cell.
Each cell contains a full complement of genes, yet cells from different tissues and organs look and behave
differently. The reason is that only some of the DNA of each cell is used to make proteins. DNA plays a
role as a traffic cop for the types of proteins a cell will make. It does this through interactions with
proteins in the cells that cause only certain genes to express themselves. This is how a single fertilized
egg cell differentiates into the many types of cells, tissues and organs found in complex organisms. The
DNA can respond to the need for a particular protein by exposing the appropriate genes for transcription
while keeping other genes inactive.
Process of mitosis
During the process, all the chromosomes in the parent cell are copied.
Each copy remains attached to the original one --> each chromosome is made up of 2 identical
threads joined together.
The parent cell (with 4 chromosomes) split to form 2 nuclei each with 2 chromosomes as the
parent nucleus cell.
At the end of a mitotic cell division, the number of cells is doubled and the daughter cells
produced are genetically identical to the parent.
Meiosis is the way in which gametes (sex cells) are produced. Gametes have only half the number of
chromosome of a normal body cell. They have 1 set of chromosome instead of 2. When they fuse
together, the zygote formed has 2 sets.
Human gametes are formed by the division of cells in the ovaries and testes
The gametes produced are haploid, but they are formed from diploid cells, so meiosis involves
halving the normal chromosome number - the pairs of chromosomes are separated.
During meiosis, the new cells get a mixture of homologous chromosomes from father and mother.
A sperm cell of an individual could contain a chromosome 1 from father and a chromosome 2 from
mother.
There are all sorts of combinations; gametes are genetically different from the parent cells.
Meiosis produces genetic variation.
When ova are formed in a woman, all the ova will carry an X chromosome. When sperm are formed
in a man, half the sperm will carry an X chromosome; half will carry a Y chromosome.
Monohybrid inheritance
10. Genotype: genotype is the genetic make-up of an organism in terms of the alleles present.
11. Phenotype: phenotype is the observable features of an organism.
12. Homozygous: homozygous is having two identical alleles of a particular gene.
13. Heterozygous: heterozygous is having two different alleles of a particular gene
14. Dominant allele: dominant is an allele that is expressed if it is present.
15. Recessive allele: Recessive is an allele that is only expressed when there is no dominant allele of the
gene present
16. Sex-linked characteristic: sex-linked characteristic is a characteristic in which the gene responsible is
located on a sex chromosome and that this makes it more common in one sex than in the other.
17. Pure breeding: In genetics, pure breeding involves creating offspring by mating two parents that are
genetically similar.
18. Monohybrid cross: A monohybrid cross is the study of the inheritance of one characteristic.
19. Co-dominance : A form of dominance in which the alleles of a gene pair in a heterozygote are fully
expressed thereby resulting in offspring with a phenotype that is neither dominant nor recessive.
e.g. a person having A allele and B allele will have a blood type AB because both the A and B
alleles are co-dominant with each other.
20. test·cross: A cross between an individual exhibiting the dominant phenotype of a trait and an
individual that is homozygous recessive for that trait in order to determine the genotype of the
dominant individual.
21. Punnett square: The Punnett square is a diagram that is used to predict an outcome of a particular
cross or breeding experiment. It is named after Reginald C. Punnett, who devised the approach. The
diagram is used by biologists to determine the probability of an offspring having a particular
genotype.
A monohybrid cross involves the crossing of individuals and the examination of one (mono) character
(flower colour, pod shape ) and different (hybrid) traits (red colour, white colour) in their offspring.
The Punnett square is a useful tool for predicting the genotypes and
phenotypes of offspring in a genetic cross involving Mendelian traits.
All the genetic crosses shown below will involve examples using
pea plants, which can be tall (T) of dwarf (t) – tall is dominant to
dwarf.
Examiner’s tips
When you write out a genetic cross, make sure you state what
the symbols represents, e.g. T=tall, t=dwarf.
Make sure you label each line in the cross (phenotype,
genotype…).
It’s a good idea to circle gametes to show that meiosis has
happened.
Read the question really carefully – are you asked to state the
outcome in terms of the genotype or the phenotype?
Punnett square
tall
2. A cross between
two heterozygous tall pea plant.
3. A cross between
A heterozygous tall pea plant and
dwarf pea plant.
genotype phenotype
Cw Cw white flowers
Cw CR pink flowers
CR CR red flowers
Genes that are found only on the non-homologous parts of the X or Y chromosomes are
called sex-linked genes.
Colour blindness-
A sex linked gene controls the production of three kinds of cone cells in the retina.
The recessive allele of this gene b, results in the production of only two types of cone cells.
A person who is homozygous recessive for this allele cannot differentiate red and green
colour and are said to be red-green Colour- blind.
This condition is much more common in male than in female.
Genotype phenotype
1 XB XB Woman with normal vision
2 XB Xb Woman with normal vision but she is carrier the allele
3 Xb Xb Woman with red-green colour blindness
4 XB Y Man with normal vision
5 Xb Y Man with red-green colour blindness
Use genetic diagrams to predict the results of sex linkage of colour blindness from different genotypic
male and female and calculate phenotypic ratios.
Example
i. Inheritance of sex-linked characteristics (colour blindness) to the offspring from carrier mother
and normal father.
Parents’ genotypes: XB Y XB Xb
Gametes: XB or Y XB or Xb
Genetic diagram
Y XB Y Xb Y XB Y normal male
Xb Y red-green colour blind male
Phenotype ratio: normal: carrier: colour blind꞊ 2:1:1
Haemophilia:
Haemophilia is an inherited disease which affects the blood's ability to clot.
Normally, when you cut yourself, substances in the blood known as clotting factors (Factor VIII)
combine with blood cells called platelets to make
the blood sticky and stop bleeding.
People with haemophilia don't have as many
clotting factors as there should be in the
blood. This means they bleed for longer than
usual.
Gene for factor VIII on X chromosome
Most people who have haemophilia are male.
Use genetic diagrams to predict the results of sex linkage of haemophilia and calculate phenotypic ratios.
Pedigree diagram or chart: A pedigree chart is a diagram that shows the occurrence and appearance or
phenotypes of a particular gene or organism and its ancestors from one generation to the next most
commonly humans.
Refer to the following graph. A pedigree was established to trace the colorblindness allele through four
generations.
1. Based on the pedigree above, what is the probability that a male child born to individuals 6 and 7 will
be color-blind?