Chromosomes and genes:

Definitions:
● Chromosomes: thread-like structure of
DNA carrying genetic information in the
form of genes
● Gene: section of DNA that codes for a
protein

● Chromosomes are long threads in the

nucleus of each cell, containing DNA that
carries genetic instructions for protein
production. They are too thin to be seen except with an electric microscope,
throughout cell division they get shorter and fatter-> can be seen with light
microscope
● A part of a chromosome is called a gene, Each chromosome holds many genes, with
each gene coding for a specific protein.
● Genes determine traits like eye colour, hair colour, and susceptibility to genetic
diseases.
● Humans have 46 chromosomes per cell, each with many genes. Every cell has an
identical set of genes, but unless you're an identical twin, no one else shares your
exact combination, making you unique.
Cell division:

● You began as a zygote, a single cell formed by the fusion of an egg and sperm cell.

● Each gamete (egg and sperm) contained 23 chromosomes.

● The fusion created a zygote with 46 chromosomes.

● A haploid cell has one set of chromosomes (like a gamete).

● A diploid cell has two sets of chromosomes (like the zygote).

Mitosis:
Definition:
● Mitosis- nuclear division giving rise to genetically identical cells

Why mitosis: To produce genetically identical cells for growth and replacement of cells
 After the zygote formed, it began dividing repeatedly, creating a ball of cells that grew into
you.
 Each division produced two new, genetically identical cells, each with a copy of the
original chromosomes.
 This process is called mitosis.
 Mitosis occurs during growth, repair (e.g., healing a wound), and asexual reproduction.
 In asexual reproduction, like in potatoes, mitosis creates genetically identical cells.
 Before mitosis, chromosomes are copied; each chromosome consists of two identical
threads, called chromatids, joined at the centromere.
Process of mitosis:
● Just before mitosis, each chromosome in the nucleus copies itself exactly (forms x –
x-shaped chromosomes)
● Chromosomes line up along the centre of the cell where cell fibers pull them apart

● The cell divides into two; each new cell has a copy of each of the chromosomes

Meiosis:
Definitions:
● Meiosis: nuclear division giving cells that are genetically different by halving the
number of chromosomes from diploid to haploid

Why meiosis: To produce genetic variation

● Meiosis is a type of nuclear division that gives rise to cells that are genetically
different
● It is used to produce the gametes (sex cells)

● The number of chromosomes must be halved when the gametes (sex cells) are formed

● Otherwise, there would be double the number of chromosomes after they join at
fertilisation in the zygote (fertilized egg)
● This halving occurs during meiosis, and so it is described as a reduction division in
which the chromosome number is halved from diploid to haploid, resulting in
genetically different cells
● It starts with chromosomes doubling themselves as in mitosis and lining up in the
centre of the cell
● After this has happened the cells divide twice so that only one copy of each
chromosome passes to each gamete
 ● We describe gametes as being haploid - having half the normal number of
chromosomes
● Because of this double division, meiosis produces four haploid cells

Process of meiosis: (Ho Trovato una foto meglio pero se ti confondi puoi usare quello
dal’libro)

● Division one-
homologous
chromosomes
separate- one from
each pair goes
into each daughter
cell
● Division two- each
chromosome separates
into two chromatids. One
chromatid of each kind
goes into each daughter
cell

Stem cells:
● Embryonic stem cells, in
the early embryo, can
produce any type of
specialized cell in the
body.
● Once a cell differentiates
into a specific type, it
cannot change its role
(e.g., a muscle cell can't
become a liver or skin
cell).
● As an adult, most cells
are differentiated, but some stem cells, called adult stem cells, remain.
● Adult stem cells can produce specific cell types but have a limited range (e.g., bone
marrow stem cells can produce red blood cells, platelets, and white blood cells, but
not nerve or liver cells).
● Stem cell research holds potential for treating diseases caused by malfunctioning
cells, such as using stem cells to replace pancreatic cells in type 1 diabetes to restore
insulin production.
Genotypes and phenotypes:

Definitions:
● Allele- any of two or more alternative forms of a gene

● Homozygous- two identical alleles of a particular gene (GG or gg)

● Pure breeding- two identical homozygous individuals that breed

together
● Heterozygous- two different alleles of a particular gene

● Genes are sets of instructions for producing different proteins, in

this example fur colour
● Fur colour has different forms. Each form has an allele

● Grey fur= G, charcoal fur=g

● Each cell has two genes instructing which fur colour protein to make
so the 3 possible combinations are GG (homozygous), gg
(homozygous) or Gg (heterozygous)
Genotype- The genes an organism contains, describing all the different
alleles. For e.g. the genotype for animals’ fur colour would be GG, gg or
Gg
Phenotype- The observable features an organism has due to its genes. For
e.g. the animals fur colour (grey or charcoal) would be the phenotype

Dominant and recessive alleles:

● Dominant and recessive alleles determine fur colour (phenotype).

● Genotypes and phenotypes:

o GG= Grey
o Gg=Grey
o gg=Charcoal

● The G allele is dominant, meaning it affects the phenotype even

when only one copy is present (homozygous GG or heterozygous
Gg both result in grey fur).
● The g allele is recessive and only affects the phenotype when two
copies are present (gg, resulting in charcoal fur).
● Heterozygous chinchillas (Gg) are carriers of the charcoal allele but
have grey fur.
So 2 alleles->Gene (genotype)->proteins->observable
features(phenotype)

Codominance:
● Both alleles in heterozygote are expressed in the phenotype

● Example:
o Flower colour with codominant alleles:
o CwCw: White flowers
o CwCr: Pink flowers (both alleles contribute)
o CrCr: Red flowers

Alleles in gametes and fertilisation:

● Gametes (egg and sperm) have half the chromosomes of body cells,
carrying one allele for each gene.
● Example: A male chinchilla with genotype Gg produces sperm
through meiosis, with half carrying G and half carrying g alleles.
● A female with genotype gg produces eggs that all carry the g allele.

● During fertilization:
o If a sperm with G fertilizes the egg, the zygote will be Gg
(grey fur).
o If a sperm with g fertilizes the egg, the zygote will be gg
(charcoal fur).
● There is an equal chance of producing offspring with Gg or gg
genotypes.

Genetic diagrams:

● To work out result of genetic crosses

1. Write phenotype
2. Write genotype
3. Write gametes
4. Cross the gametes to work out what will happen at fertilization
5. Write out the results

Note: probabilities worked out might not be accurate for a small

number of offspring, the larger the number of offsprings, the
more accurate the probabilities are e.g:

Parent’s Grey Charcoal

genotype
Parent’s Gg gg
genotype

Gametes G or g g

the cross:

G Gg (grey) ● 1/2 offspring expected to be

grey
● ½ offspring expected to be
g gg (charcoal) charcoal

e.g.2
Parent’s Grey Grey
genotype

Parent’s Gg Gg
genotype

Gametes G or g G or g

G g
● ¾ of offspring
grey
G GG (grey) Gg (grey)
● ¼ of
offspring
charcoal
g Gg (grey) Gg (charcoal

Codominance e.g.:
Sex Determination and sex linkage:

● The last pairs of chromosomes determine the sex of offspring – sex

chromosomes
● Women have both same chromosomes, so genotype is XX

● Men have one X chromosome and one Y so genotype is XY

Parent’s Male Female

genotype

Parent’s XY XX
genotype

Gametes X or Y X

X XX

Y XY
Sex linkage:
● Sex-linked characteristic: characteristic in which the gene
responsible is located on a sex chromosome. On males it is more
likely to be expressed as they have one full chromosome( X) so
even a homozygous gene on its own is expressed. In females it is
less likely as both homozygous alleles are required in both X
chromosomes to be expressed.

● The X and Y chromosomes determine sex but also carry other

genes.
● The X chromosome is larger with many genes, while the Y
chromosome is smaller with fewer genes.
● Most genes on the X chromosome have no counterpart on the Y
chromosome, meaning men have only one copy of these genes.
● Genes found only on the non-homologous parts of the X or Y
chromosomes are called sex-linked genes.
● An example of a sex-linked gene controls the production of cone
cells in the retina:
o A recessive allele (b) causes red-green colour blindness.
o Men are more likely to have red-green colour blindness
because they only have one X chromosome.
● E.g. Genotype and Phenotype
o X XB = women with normal vision
B

o XB Xb= women with normal vision

o Xb Xb= women with red-green colour blindness
o XBY= man with normal vision
o XbY =man with red-green colour blindness

Note with sex linked genes, both chromosome (X or Y) have

to be written aswell as allele (B or b)

Inheritance of sex-linked genes:

Parent’s Normal Man Red-green colour

genotype blindness woman

Parent’s XBY XBXb

genotype
Gametes XB or Y XB or Xb

XB Xb

XB XBXB \ XBXb
Normal female Normale female

Y XBY XbY
Normal male Colour blind
male

● ½ male normal ½ male colour blind

● All female normal

DNA and protein synthesis:

● Chromosomes and DNA: Chromosomes are made of DNA, which
consists of two strands of nucleotides. Each nucleotide has a DNA
base, There are four DNA bases: A, C, T, and G.
● DNA and Proteins:
o Proteins are made of chains of 20 different amino acids.
o The sequence of amino acids determines a protein's shape
and function.
o DNA contains a code that specifies the sequence of amino
acids in a protein.
● Genes and Functions:
o A gene is a length of DNA coding for a specific protein.
o Proteins affect an organism's traits and act as enzymes,
antibodies, or receptors.
● Genetic Code:
 o DNA bases are read in triplets, with each triplet coding for an
amino acid (e.g., CCG = glycine, CAG = valine).
● Protein Synthesis:
o DNA is in the nucleus, but protein synthesis occurs on
ribosomes in the cytoplasm.
o Messenger RNA (mRNA) carries the DNA instructions to the
ribosomes for protein assembly.