TOPIC 3.1 AND 3.

2
GENES AND
CHROMOSOMES

STATE THAT EUKARYOTIC CHROMOSOMES ARE MADE

OF DNA AND PROTEINS.
In

eukaryotic cells, chromosomes are located in the

nucleus, and are made up of chromatin.
Chromatin is composed of DNA and histone proteins.
DNA coils around histone proteins to form nucleosomes.
The nucleosomes interact with one another to form coils
and supercoils that make up chromosomes.

DEFINE GENE, ALLELE, AND GENOME

Differing from other

alleles by one or a
few bases only and
occupying the same
gene locus as other
alleles of the gene.

DEFINE GENE, ALLELE, AND

GENOME

Genome: the whole of the

genetic information of an
organism.

DEFINE GENE MUTATION

A change in the sequence of bases in a gene.

Base substitution: insertion of an incorrect nucleotide

EXPLAIN THE CONSEQUENCES OF A BASE

SUBSTITUTION MUTATION IN RELATION TO
THE PROCESS OF TRANSCRIPTION AND
TRANSLATION.

Transcription: Copying a sequence of DNA

bases to mRNA
Translation: decoding of mRNA at a ribosome
to produce a polypeptide.

SICKLE CELL ANEMIA

Blood disorder, RBC become sickle shaped

and cannot carry oxygen properly.
Due to a single base substitution mutation in
one of the genes that make hemoglobin
African ancestry
~1%

suffer from the condition

10-40% are carriers

SICKLE CELL ANEMIA

Valine has different properties from glutamic

acid
Hemoglobin molecule is a different shape
Less

soluble
In low oxygen concentrations, it deforms the red
blood cells

3.2 CHROMOSOMES

STATE THAT, IN KARYOTYPING, CHROMOSOMES

ARE ARRANGED IN PAIRS ACCORDING TO THEIR
SIZE AND STRUCTURE.

Karyotype: photograph
of the chromosomes
found in a cell
arranged according to
a standard format

Size and shape

Shape depends on the

position of the
centromere.

HOW IS A KARYOTYPE MADE?

1. Cells are strained and prepared on a glass

slide.
2. Photomicrograph images are obtained of
the chromosomes during mitotic metaphase.
3. Images are cut out and separate, done by
hand or computer.
4. Images of each pair of chromosomes are
placed in order by size and the position of
the centromere.

STATE THAT KARYOTYPING IS PERFORMED USING CELLS

COLLECTED BY CHORIONIC VILLUS SAMPLING OR
AMNIOCENTESIS, FOR PRE-NATAL DIAGNOSIS OF
CHROMOSOME ABNORMALITIES.

Amniocentesis: taking
amniotic samples
14-16 weeks

Chorionic villus: taking

a sample of cells from
chorionic villus (fine
projections of the
placenta embedded in
the lining of the
uterus)
8-10 weeks

-EXPLAIN THAT NON-DISJUNCTION CAN LEAD TO CHANGES

IN CHROMOSOME NUMBER, ILLUSTRATED BY REFERENCE TO
DOWNS SYNDROME (TRISOMY 21)
-ANALYSE A HUMAN KARYOTYPE TO DETERMINE GENDER AND
WHETHER NON-DISJUNCTION HAS OCCURRED.

Non-disjunction: process by which

two or more homologous
chromosomes stick together.
Can occur during the 1st or 2nd
meiotic division.
Trisomy 21: non-disjunction of the
21st chromosome, leads to Downs
Syndrome
Most common chromosomal anomaly
1 birth in 800, rick increases after age
35

BACTERIAL CHROMOSOMES

Prokaryotes have 1 chromosome

Circular, naked DNA molecule
Not associated with proteins
Single

copy of each gene

PLASMIDS

Extra DNA molecule that are commonly found

in prokaryotes.
Small, circular, naked, contains a few genes
that may be useful to the cell but not
needed for basic life processes.
Example: antibiotic resistance genes

PLASMIDS

May not be replicated at the same time as

the chromosome or at the same rate
May have multiple copies or may not be
passed to both cells formed during
replication.

EUKARYOTE CHROMOSOMES

Linear
Histone proteins
Visible during mitosis and meiosis when they
become shorter and fatter by supercoiling.
Two chromatids held together by a
centromere or a single chromatid

HOMOLOGOUS CHROMOSOMES

Have the same sequence of genes

Alleles

are different

HAPLOID AND DIPLOID

n
Contain 1
chromosome of
each type
Gametes

2n
2 chromosomes of
each type
Human cells
contain 46
chromosomes

RECOMBINANT PLASMID