Biology Revision

Chapter 7 – Genetics
Recapping DNA

- Deoxyribonucleic acid is found in the nucleus

- Formed by repeating nucleotides
- Nucleotides include:
A phosphate group, deoxyribose sugar, and a nitrogenous base (A, T, C, or G)
- Double helix where complementary nitrogenous bases form a hydrogen bond (A&T and C&G
as well as A&U when referring to RNA)
- DNA is double stranded
- Antiparallel – they run in opposite directions with the 3’ end matching the 5’ end on the
other strand

From DNA to Genes

- A gene is a particular section of DNA that codes a set of instructions which a cell will then
read to create a protein needed for that individual
- The order of the bases determines which protein is made
- A genome is the complete set of DNA combined with an organism’s chromosomes

Alleles

- Alleles are alternate forms of a gene

- Each individual will have two sets of alleles (from both parents)
- The allele that is expressed is known as your phenotype

A genome is the haploid set of chromosomes within and organism, including all of its genes. A copy
of the entire genome is contained in all cells within the body that have a nucleus.

A gene is a section of DNA that carries the code to make a protein. Our genes are what form the
basis of inheritance and can be found at specific locations on our chromosomes.

An allele is an alternative form of a gene. We typically have two alleles – one from each parents –
which are found at the same gene locus on corresponding chromosomes

Chromosomes

- There are 46 chromosomes in the human somatic cell

- Formed when two gametes fuse. Each gamete contains 23 chromosomes (haploid number)
and when combined, form a somatic cell containing 46 chromosomes (diploid number)
- A karyotype are all the chromosomes present arranged in size and pairs

Structure of a chromosome

- Each chromosome will vary in size based on the number of nucleotides present
- Each gene will have its own gene locus on the chromosome
- Each chromosome contains:

Telomeres: repetitive base sequences to protect the ends of chromosomes

Centromere: a sequence of DNA that hold the two chromatids together

 Homologous chromosomes

Pairs of chromosomes that:

- Are the same in size and length

- Have the same centromere position
- Share the same genes at the same gene loci

Karyotypes

- Pairs 1-22 are known as autosomes

- Chromosome pair 23 are known as sex chromosomes (XY for male or XX for female)

Aneuploidy

- The term used to describe an incorrect number of chromosomes in an individual

- Types include:

Monosomy: one missing chromosome (Turner Syndrome)

Trisomy: one extra chromosome (Down Syndrome)

Tetrasomy: two extra chromosome

Polyploidy

- Refers to a chromosome abnormality where an organism has more than two sets of each
chromosome
- It is lethal in humans
- Some plants are able to survive and thrive in these conditions

Meiosis

- Involved the production of gametes needed for sexual reproduction

- Creates different gametes for variation
- Each gamete will contain only one copy of each chromosome
- When two gametes fuse, two copies of each chromosome develop inside a zygote

Germ Cells and Somatic Cells

- Somatic cells include skin, muscle, and nerve cells. Known as diploid cells and are produced
during mitosis. Cells are identical to the parents
- Germ cells include gametes. Known as haploid cells and are produced in meiosis. Cells are
not identical

Mitosis Meiosis
- Somatic cells - Gamete cells
- Does not involve recombination of - Involves rearrangement of alleles
alleles creating variation
- Produces two identical daughter cells - Produces 4 genetically unique daughter
- Daughter cells contain the same cells
number of chromosomes as the parent - Daughter cells contain half the number
cell of chromosomes of the parent
- 46 chromosomes (diploid) - 23 chromosomes (haploid)
- PMAT (divide once) - PMAT x2 (divide twice)
 - Meiosis produces haploid gametes
- Meiosis is called a reduction division as it reduced the number of chromosomes from 2n of
the somatic cell to half
- Gametes receive only one copy of each pair of homologous chromosomes
- Involves Meiosis I and Meiosis II

Meiosis I

- Begins with a diploid cell and results in two genetically distinct daughter cells
- The process involves:

Prophase I, Metaphase I, Anaphase I, and Telophase I

- During Meiosis I, crossing over and independent assortment occurs to create variation

Crossing Over

- Exchanges of segments between matching chromosomes may occur

- Results in recombinant chromatids therefore creating genetic variation
- Usually occurs during Prophase I

Independent Assortment

- During Metaphase I, homologous chromosomes arrange randomly along the equator of the
cell and results in the random splitting of chromosomes
- Each haploid cell is different to the diploid parent cell
- Results in genetic variation

Stages of Meiosis

Interphase – Where the cell grows and duplicates all of its chromosomes in preparation for division

Prophase I – Nuclear membrane breaks down as chromosomes condense and thicken. The
chromosomes match in homologous pairs and exchange DNA (crossing over)

Metaphase I – Homologous chromosomes line up in the middle, on opposite sides of the metaphase
plate, with one copy (paternal/maternal) on either side (independent assortment)

Anaphase I – Homologous chromosomes are pulled by spindle fibres towards opposite poles of the
cell. The sister chromatids remain attached to each other at the centromere.

Telophase I – Chromosomes arrive at opposite ends of the cell as the nuclear membrane is cleaved. A
cleavage furrow is then formed in preparation for cytokinesis.

Prophase II – The two cells are prepared for another division. Nuclear envelope breaks down as
chromosomes condense. No crossing over

Metaphase II – Chromosomes line up in single file along the metaphase plate of the cell

Anaphase II – Sister chromatids are separated and pulled away by spindle fibres to opposite poles of
the cell
Telophase II – Separate nuclear membranes begin to form around each set as the chromosomes
begin to decondense and unravel

Cytokinesis – Splits each of the chromosome sets at the opposite ends of the cell into four new,
individual cells. The resulting daughter cells are haploid and not identical.

Before Interphase After Interphase After Meiosis I After Meiosis II

Chromosomes 46 (diploid) 46 23 23
Chromatids 46 (diploid) 92 46 23

Errors during Meiosis

- Occurs when a pair of chromosomes fail to split or separate at anaphase so either two copies
are present on one gamete, or a copy of the chromosome is missing

Genotypes and Phenotypes

- Genotypes refer to the genetic make-up. The genotype of an organism is a set of alleles for
each gene
- Phenotypes of an organism refers to its physical features or traits or outward expression

Codominance

- Occurs when both alleles from the genotype are fully expressed in the phenotype of a
heterozygous individual
- Meaning both alleles are dominant and are expressed

Incomplete Dominance

- Occurs when neither allele from the genotype is fully expressed, resulting the ‘blending’ of
traits

Sex determination

- The sex of an individual is determined by what sez chromosome is contained with the egg
and sperm at fertilization.
- At meiosis:

Females produce gametes containing X chromosomes and Males produce sperm containing either X
or Y chromosome. Therefore, it is the sperm that determines the sex of the offspring

Sex linked inheritance

- Either inherited from the X or Y chromosome

- X linked inheritance includes colour blindness, haemophilia, baldness.
- Since males only have one X chromosome, they are unable to make the recessive trait, so
therefore are expressed

Chapter 8 – Inheritance
Test Cross – Performed to determine the genotype of a dominant phenotype. Done by crossing the
dominant phenotype with a recessive phenotype and observing the offspring ratios.
Monohybrid Cross

X-Linked Conditions

X-Linked recessive

- In a female, with XX genotype, normal dominant/recessive rules apply to the phenotype for
these X-linked traits. But in the ale, with only one X chromosome, the allele on the X
chromosome will always be expressed in the phenotype as there is no corresponding allele
on the Y chromosome to affect it.
- Eg. XnXn or XnY (recessive allele gives disorder)

X-Linked dominant

- In this type of inheritance females only need I allele for the trait to have the condition and it
is possible for them to inherit it form their father.
- Eg XNXn (dominant allele gives disorder)
- Heterozygous females will be affected with the condition

Dihybrid Crosses
Linked genes

- Genes that are close together on the same chromosome are inherited together
- These combinations can be broken by crossing over during meiosis so that new combinations
are generated
- The chance of crossing over depends on the distance between 2 linked genes
- The closer the genes are, the less chance there is of crossing over

Detecting Linkage

- Linkage occurs when genes are located on the same chromosome.

- Linked genes tend to be inherited together and fewer genetic combinations of alleles are
possible
- Linkage reduces the variety of offspring that can be produced due to contrast to
recombination
- Linkage is indicated when there is a higher proportion of the progeny resulting from a cross,
that are the parental genotype

If genes are not linked…

- A test cross is used to determine if 2 genes are linked or not

- In this case the two genes are on different chromosomes (we can tell this because the
genotypic ratio is 1:1:1:

If two genes are linked…

- These genes are linked. We can tell this because there is a high proportion of individuals with
the parental phenotype and a low number of offspring with the recombinant phenotype
 - This result is only possible if crossing over occurred meaning that the genes in question as to
be on the same chromosome

Pedigree Analysis

Can be used to find out the type of inheritance