Genetics Unit Study Notes

4.1.1: Eukaryotic chromosomes are made of DNA and proteins.

4.1.2: Define gene, allele, and genome

Gene- a heritable factor that controls a specific characteristic
Allele- one specific form of a gene, differing from other alleles by one or a few bases
Genome- the whole of the genetic information of an organism

4.1.3: Define gene mutation- is the change to the base sequence of a gene.

4.1.4: Explain the consequence of a base substitution mutation in relation to the processes of
transcription and translation, using the example of sickle cell anemia.
(GAG has mutated to GTG causing glutei acid to be replaced by valine, and hence sickle cell
anemia.)

The smallest possible change is when one base in a gene is replaced by another base.
This type of gene mutation is called a base substitution. Although only one base is changed, the
consequences can be very significant. Many gene mutations cause a genetic disease. One
example is sickle cell anemia.

4.2 Meiosis

4.2.1: State that meiosis is a reduction division of a diploid nucleus to form haploid nuclei.

4.2.2:
Homologous chromosomes- have the same genes as each other, in the same sequence, but not
necessarily the same alleles of those genes.

4.2.3: Outline the process of meiosis, including pairing of homologous chromosomes and
crossing over, followed by two divisions, which results in four haploid cells.
(Limit crossing over to the exchange of genetic material between non-sister chromatids during
Prophase I. Names of the stages are required.)

4.2.4: Explain that non-disjunction can lead to changes in chromosome number, illustrated by
reference to Down syndrome (trisomy 21).

Besides gender, karyotypes can also be analysed to find out whether a fetus has
chromosome abnormalities. Sometimes chromosomes that should separate and move to opposite
poles during meiosis do not separate and instead move to the same pole. This can happen in
either the first or the second division of meiosis. Non-separation of chromosomes is called non-
disjunction. The result is that gametes are produced with either one chromosome too many or
too few. Gametes with one chromosome too few usually quickly die. Gametes with one
chromosome too many sometimes survive. When they are fertilised, a zygote is produced with
three chromosomes of one type instead of two. This can cause down syndrome. It can be due
either to non-disjunction during the formation of the sperm or egg.

4.2.5: State that in karyotyping, chromosomes are arranged in pairs according to their size and
structure.

4.2.6: State that karyotyping is performed using cells collected by chorionic villus sampling or
amniocentesis, for pre-natal diagnosis of chromosome abnormalities.

4.2.7: Analyse a human karyotype to determine gender and whether non-disjunction has
occurred. (Karyotyping can be done by using enlarged photographs of chromosomes.)

10.1 Meiosis

10.1.1: Describe the behaviour of the chromosomes in the phases of meiosis.

Prophase 1:
Chromosomes pair up. The chromosomes in each pair are homologous.
Metaphase 1:
Spindle microtubules from the two poles attach to different chromosomes in each pair, ensuring
that one is pulled to one pole and the other to the other pole.
The pairs of chromosomes line up on the equator
Anaphase 1:
Homologous chromosomes are pulled to opposite poles. This halves the chromosome number.
Each chromosome still consists of two chromatids.
Prophase II:
The cell has divided to form two haploid cells. These immediately divide again - meiosis
involves two divisions.
New spindle microtubules grow from the poles to the equator.
Anaphase II:
The centromeres have divided making the chromatids into separate chromosomes which move to
opposite poles.
Telophase II:
Each nucleus now has half as many chromosomes as the nucleus of the parent cell
Both cells have divided again to form four haploid cells.

10.1.2: Outline the formation of chiasmata in the process of crossing over.

10.1.3: Explain how meiosis results in an effectively infinite genetic variety in gametes through
crossing over in prophase I and random orientation in metaphase I.

10.1.4: State Mendel’s law of independent assortment.

The presence of an allele of one of the genes in a gamete has no influence over which
alleles of other genes is present in the gamete.
Ie:
Each homologous pair of chromosomes (bivalent) carries a selection of genes different than other
bivalents.
Each pair of alleles segregates into gametes independently of the other alleles located on
different chromosomes.
If crossing over occurs (in prophase I), pairs of alleles may segregate independently of other
pairs of alleles on the same chromosome.

10.1.5: Explain the relationship between Mendel’s law of independent assortment and meiosis.
During meiosis:
Prophase I: crossing over (between non-sister chromatids) occurs randomly
Metaphase I: homologous pairs align randomly - the genes present on one bivalent do not
influence which other bivalents move to the poles.
Metaphase II: chromatids align again randomly
Anaphase II: chromatids separate randomly - one chromosome (‘chromatid’) does not influence
which others move with it
*Genes on the same chromosome are referred to as linked, so if crossing-over does not occur
independent assortment does not occur.

4.3 Theoretical Genetics

4.3.1 Define:
Genotype- the alleles possessed by an organism e.g. allele for tongue rolling
Phenotype- the characteristics of an organism related to genotype (e.g. being able to roll your
tongue vs. not being able to.)
Dominant allele- an allele that has the same effect on the phenotype whether it is present in the
homozygous or heterozygous state.
Recessive allele- an allele that only has an effect on the phenotype when present in the
homozygous state
Codominant alleles- pairs of alleles that both affect the phenotype when present in a
heterozygote.
Locus- the particular position on homologous chromosomes of a gene
Homozygous- having two identical alleles of a gene
Heterozygous- having two different alleles of a gene
Carrier- an individual that has one copy of a recessive allele that causes a genetic disease in
individuals that are homozygous for this allele.
Test cross- testing a suspected heterozygote by crossing it with an unknown homozygous
recessive.

4.3.2: Determine the genotypes and phenotypes of the offspring of a monohybrid cross using a
Punnett grid. (The grid should be labelled to include parental genotypes, gametes, and both
offspring genotype and phenotype)

Sample Question: A monohybrid cross is performed between a pea plant (A) that produces
round seeds, a dominant trait, and another pea plant (B) that produces wrinkled seeds, a recessive
trait. When self-pollinated, plant A produces offspring that have round seeds or wrinkled seeds,
which indicates that plant A is heterozygous.
4.3.3: State that some genes have more than two alleles (multiple alleles)

4.3.4: Describe ABO blood groups as an example of codominace and multiple alleles.

Phenotype Genotype
O ii
A IA IA or IAi
B IB IB or IBi
AB IA I B

4.3.5: Explain how the sex chromosomes determine gender by referring to the inheritance of X and Y
chromosomes in humans.

 Two chromosomes determine the gender of a child (whether it is male or female). These are
called the sex chromosomes.
 The X chromosome is relatively large and carries many genes.
 The Y chromosome is much smaller and carries only a few genes.
 If two X chromosomes are present in a human embryo and no Y chromosome, it develops into a
girl.
 If one X chromosome and one Y chromosome are present, a human embryo develops into a boy.
 Women pass on one X chromosome into the egg.
 Men either pass on one X or one Y chromosome in the sperm, so the gender of the child
depends on whether the sperm that fertilizes the egg is carrying an X or a Y chromosome

4.3.6: State that some genes are present on the X chromosome and absent from the shorter Y
chromosome in humans.

4.3.7: Define sex linkage- Sex linkage is the association of a characteristic with gender, because the gene
controlling the characteristic is located on a sex chromosome. Sex-linked genes are almost always
located on the X chromosome.
4.3.8: Describe the inheritance of colour blindness and hemophilia as examples of sex linkage. (Both
colour blindness and hemophilia are produced by a recessive sex-linked allele on the X chromosome.)

XH is the X chromosome carrying the allele for normal blood clotting

Xh is the X chromosome carrying the allele for hemophilia.

4.3.9: State that a female carriers can be homozygous or heterozygous with respect to sex-linked genes.

4.3.10: Explain that female carriers are heterozygous for X-linked recessive alleles.

4.3.11: Predict the genotypic and phenotypic ratios of offspring of monohybrid crosses involving any of
the above patterns of inheritance.

4.3.12: Deduce the genotypes and phenotypes of individuals in pedigree charts.

10.2.1: Calculate and predict the genotypic and phenotypic ratio of offspring of dihybrid crosses
involving unlinked autosomal genes.

10.2.2: Distinguish between autosomes and sex chromosomes.

10.2.3: Explain how crossing over between non-sister chromatids of a homologous pair in prophase I
can result in an exchange of alleles.

10.2.4: Define linkage group-